cover and comments 23-2 -for website · primary craniosynostosis with known mutations. most of the...

CRANIOFACIAL SURGERY

BARROWBARROW

VOLUME 23 ◊ NUMBER 2 ◊ 2007

BARROW NEUROLOGICAL INSTITUTE OF ST. JOSEPH’S HOSPITAL AND MEDICAL CENTER • PHOENIX, ARIZONA

Q U A R T E R L Y

Copyright © 2006, Barrow

This issue’s cover depicts the key steps to successfulcraniofacial surgery as they relate to a child withCrouzon syndrome. As a part of the planning process,the doctor traces the projected position of the mobi-lized bone. A Le Fort III osteotomy is performed to freethe bone fragment that will undergo distraction osteo-genesis. Once distraction is complete, the rigid fixa-tion device is left to hold the face forward until it heals,obviating the need for bone grafts, plates and screws.See the article by Beals et al. on page 11. The illus-tration is by Kristen Larson.

C O M M E N T S

No single discipline has the expertise to fully treat children with a craniofacial anomaly. Consequently,such children require care from many different disciplines. Typically, surgical, medical, dental, and psy-chosocial specialists are involved. When a large number of professionals are involved in the multifacetedcare of patients, healthcare teams develop. Cleft and craniofacial teams, which were formed in responseto the complex, life-long, ongoing clinical and psychosocial needs of this patient population, are widelyconsidered an effective means to avoid fragmentation and dehumanization in the delivery of such highlyspecialized health care.

Team care represents an improvement over splintered, community-based, multispecialty care. Thebenefits of healthcare delivery by the team approach include the abilities to provide interdisciplinary ser-vices, to address the emotional and psychological needs of patients and their family, and to perform mul-tifaceted examinations that enable comprehensive treatment plans to be formed based on the team’s rec-ommendations and the family’s preferences.

Since 1986 the Barrow Craniofacial Center (formerly the Southwest Craniofacial Center) has beentreating children and adults with cleft and craniofacial disorders from Arizona and the Southwest throughthis essential interdisciplinary team approach. The team helps address parental concerns about the choiceand timing of treatment and the coordination of ongoing care. In addition to providing these clinicalcraniofacial services, the team conducts clinical research and provides education for students of these dis-ciplines.

This issue of the Barrow Quarterly reviews established principles of craniofacial care and presents newfindings on the genetics of craniofacial deformities, new practices in orthodontic cleft care, and new tech-niques of distraction osteogenesis. The breadth of the material underscores the broad base of interdis-ciplinary knowledge and care required to care for patients with these complex deformities—care bestprovided at centers of excellence such as the Barrow Neurological Institute. We are proud to showcasethe efforts of this dedicated team working with these most complicated cases. Please consider using theenclosed self-addressed stamped envelope to make a tax-deductible donation that will help us continueto share the exciting work performed at our institution. Thank you.

Stephen P. Beals, MDGuest Editor

Copyright © 2007, Barrow Neurological Institute

4 BARROW QUARTERLY • Vol. 23, No. 2 • 2007

Craniosynostosis Syndromes inthe Genomic Era†

Craniosynostosis is the premature clo-sure of a cranial suture or sutures,

leading to alterations in head shape. It isa frequently encountered physical find-ing in children, affecting about 1 in2500.11 Etiologically and morphologi-cally, craniosynostosis is heterogeneous,often necessitating careful clinical and ra-diological evaluation to determine itscause. Neurological complications caninclude increased intracranial pressurewith decreased cerebral blood flow, ab-normalities of hearing and vision, and in-tellectual impairment. This review ex-plores the classification, biology, anddiagnosis of craniosynostosis.

Origins of CraniosynostosisThere are five major causes of cranio-

synostosis. The first is premature fusionfor unknown developmental reasons.The second is mechanical compaction(external pressure) and fusion of the su-ture. The third is premature fusion relat-ed to metabolic disorders or teratogenicagents. Fourth, the suture may close pre-maturely because of a lack of underlyingbrain growth that ordinarily causes the su-ture to remain separated. Finally, prema-ture fusion may occur as the result of agenetic mutation.

Craniosynostosis is most often an iso-lated developmental abnormality with noknown underlying mechanism. Cranio-synostosis has also been reported in morethan 100 different genetic syndromes7 inwhich the causative gene may or may notbe known. Craniosynostosis is reportedin a number of chromosomal disorders aswell.5 Metabolic disorders include hy-perthyroidism, rickets, hypercalcemia, andmucopolysaccharidoses; several hemato-

The origin of craniosynostosis is heterogeneous: hereditary, mechanical, ter-atogenic, and idiopathic. Craniosynostosis is further defined by the suture(s) in-volved and whether it is syndromic or nonsyndromic. Syndromic craniosynostosistypically involves cranial sutures plus changes in the central nervous system andextracranial skeleton. Nonsyndromic craniosynostosis is usually confined to cra-nial changes. The most common syndromic synostoses reflect changes in FGFRactivity related to mutations in the genes coding for these receptors. Other geneshave been implicated in other craniosynostosis syndromes. Several craniosyn-ostosis syndromes are caused by mutation of the same FGFR making theeponymic designation (e.g., Crouzon or Pfeiffer syndrome) less certain. Ulti-mately, syndrome eponyms may be replaced by designation of the underlying mu-tation. Neurological complications can include mental retardation, increased in-tracranial pressure, and cranial nerve abnormalities. Craniosynostosis syndromesrequire careful physical examination, radiological investigation, and now mole-cular evaluation to predict outcomes and the risks of recurrence.

Key Words: cranial suture, craniosynostosis, fibroblast growth factor re-ceptor

Abbreviations Used: FGFR, fibroblast growth factor receptor; IQ, intelli-gence quotient

Children’s Healthcare Center, St. Joseph’s Hospital and Medical Center, Phoenix, Arizona†Text from Aleck K: Craniosynostosis syndromes in the genomic era. Semin Pediatr Neurol11(4):256-261, 2004. Reprinted with permission from Elsevier.

Kirk Aleck, MD

A R T I C L E S


logical disorders account for a small per-centage of craniosynostosis cases.5 Sev-eral teratogens have also been implicatedas causes of craniosynostosis.5

Biology of CraniosynostosisThe cranial sutures are an example of

the type of bony articulation known as asynarthrosis. In this type of articulation,bones almost contact one another but areseparated by fibrous tissue and are rela-tively immovable. Sutures occur only inthe cranium and in no other part of thebody. Sutures are the sites of constant de-position and resorption, which allow therapid changes in size and shape that ac-company head and face growth. If a facialsuture fails to develop or closes prema-turely, compensatory changes in the sur-rounding bones occur.

The cranial bones originate as a seriesof ossification centers located in specificareas within the fibrous desmocraniumthat surrounds the fetal brain.5 Duringthis period of rapid growth, the ossifica-tion develops and the underlying braingrows equally rapidly. When growth ofthe brain slows, these ossification centersform sutures at their margins. Eventual-ly the sutures themselves are obliteratedas the bones of the calvarium fuse. Ap-propriate timing of this fusion results inthe normal skull shape. With the excep-tion of the metopic suture, which fusesbetween 2 and 3 years of age,21 suturalclosure is an adult phenomenon. Themajor sutures fuse in the third decade.Premature fusion occurs when a suture isobliterated by bone before it can adapt tothe rapid growth.

Classification A morphological classification of cra-

niosynostosis refers to the suture or su-tures that exhibit premature closure (Fig.1). Bilateral coronal synostosis is mostoften associated with syndromic synosto-sis and results in a short from front to back(brachy) and tall (turri)-shaped head re-ferred to as brachyturricephaly. Unilateralcoronal synostosis results in an asymmet-ric head shape referred to as plagioceph-aly. Sagittal synostosis results in a long, thin

head shape referred to as dolichocephalyor scaphocephaly. Lambdoidal synosto-sis also results in brachycephaly, but themajor effect is on the posterior skull.Metopic synostosis creates a ridge on thecenter of the forehead that extends fromthe anterior fontanel to the forehead. Itoften results in a triangular-shaped head(trigonocephaly). Synostosis involvingmultiple sutures leads to tower skull (acro-cephaly). Finally, multiple sutural synos-tosis with bulging through squamosal orsagittal sutures leads to a trilobed clover-leaf skull (Kleeblattschädel).

Craniosynostosis can be divided intoprimary and secondary synostosis (Table1). Primary synostosis, whether as part

of a syndrome or on an isolated basis, iscaused by an error in development. Pri-mary craniosynostosis can be divided intosyndromic craniosynostosis with knowngenetic mutations, syndromic synostosiswithout known genetic mutations, andnonsyndromic craniosynostosis. Sec-ondary synostosis is due to mechanical ormetabolic causes that alter a previouslynormal cranial developmental pattern.Secondary synostosis also is associatedwith early sutural closure related to failureof the brain to grow.

In the primary syndromes of cranio-synostosis, the shape of the skull can bepredicted by two general rules: The headwill be shorter perpendicular to the closed

5

Aleck: Craniosynostosis Syndromes in the Genomic Era

BARROW QUARTERLY • Vol. 23, No. 2 • 2007

Figure 1. The bones and sutures of the cranium.

Primary craniosynostosis

Primary syndromic synostosis with known mutationsPrimary syndromic synostosis without known mutationsNonsyndromic synostosis

Secondary craniosynostosis

Mechanical etiologyMetabolic etiologyEarly sutural closure due to failure of brain growth

Table 1. Classification of Craniosynostosis

Lambdoidsuture

Occipitalbone

Parietalbone

Sagittalsuture

Metopic suture

Frontal bone

Coronalsuture

Squamosalsuture

suture (growth restriction occurs at rightangles to the fused suture) and longer par-allel to the closed suture (compensatoryexpansion in the same direction of thefused suture, Fig. 2).

Nonsyndromic Isolated PrimaryCraniosynostosisIsolated Sagittal Synostosis. Isolated earlyfusion of the sagittal suture is the mostcommon form, estimated at about 56% ofall cases of isolated craniosynostosis.9 Itresults in scaphocephaly. It has a markedpredilection for males. Its cause is un-known and it usually has no neurologicalsequelae. Treatment is surgical, usually

with excellent results. Dolichocephalywithout premature sutural closure oftenoccurs in premature infants. Its origin isdeformational caused by lying on the sidesof the head for prolonged periods.

Isolated Coronal Synostosis. Early fusion ofthe coronal suture, whether unilateral orbilateral, is the second most commonform of craniosynostosis, occurring inabout 22% of isolated cases.9 As noted, itresults in brachyturricephaly. If unilater-al, it causes plagiocephaly and facial asym-metry. If unilateral, coronal synostosis oc-curs, and patient and family must beexamined carefully for systemic signs of a

syndrome such as Saethre-Chotzen as de-scribed later.

Metopic synostosis is characterizedby a bony prominence in the midline,extending from the anterior fontanel tothe forehead. It accounts for about 15%of cases of isolated craniosynostosis andis most common in males. It is often ac-companied by trigonocephaly and up-slanting palpebral fissures. Metopic syn-ostosis is part of several well-describedchromosomal syndromes, particularly9p- and some examples of Opitz C syn-drome.9 Isolated lambdoidal synostosis,whether bilateral or unilateral, is rela-tively rare and results in marked flatten-ing of the occiput. Oxycephaly, also rare,is associated with multiple sutural clo-sures. It often results in a tall, pointed(tower) skull with the brain growing inthe direction of least resistance. Acro-cephaly has an ominous prognosis. Fi-nally, Kleeblattschädel (cloverleaf skull)is an isolated abnormality or part of well-described syndromes such as Pfeiffer IIsyndrome or thanatophoric dysplasia.Cloverleaf skull is also associated with anominous prognosis.

Primary Craniosynostosis with KnownMutations. Most of the common geneticcauses of craniosynostosis have beentraced to mutations. The most commoncraniosynostosis syndromes involve mu-tations in the FGFR system (Fig. 3).18Mutations in other gene families have alsobeen found. Unfortunately, like most ge-netic disorders, several mutations of thesame gene are associated with a particu-lar syndrome. For example, more than15 mutations of the FGFR2 gene are as-sociated with Crouzon syndrome.15 Thusgenetic testing for Crouzon syndromemust involve sequencing the entire genefor malformations rather than looking fora single mutation causing all examples ofCrouzon syndrome.

Moreover, mutations in different genesoccasionally cause the same phenotypicsyndrome. For example, Pfeiffer syn-drome has been associated with muta-tions in FGFR1 and FGFR2.20 Thus aspecific diagnosis of Pfeiffer syndrome thatmight be useful in prenatal diagnosiswould require screening both FGFR1

6



Figure 2. Morphologic effect of cranial suture synostoses.

Brachycephaly(coronal)

Trigonocephaly(metopic)

Normocephaly

Plagiocephaly(unilateral lambdoidal)

Dolichocephaly(sagittal)

Plagiocephaly(unilateral coronal)

and FGFR2. An additional confusion,almost unique to the craniosynostosis syn-dromes, is that the same specific mutationcan cause different craniosynostosis syn-dromes. For instance, the identical mu-tation has been associated with Crouzonsyndrome in some families and with Pfeif-fer syndrome in others.19 This feature isstill unexplained but presumably is due toother genes altering the expression of aspecific gene.

FGFR MutationsMutations of three FGFRs account

for most causes of syndromic craniosyn-ostosis.18 These include Crouzon,Crouzon with acanthosis nigricans, Pfeif-fer, Apert, Muenke, Beare-Stevenson,and Jackson-Weiss syndromes. Crouzonsyndrome is an autosomal dominant dis-order characterized by variable, but usu-ally symmetric, synostosis of the cranialsutures. Although the coronal suture is

the suture most commonly involved, allsutures in various combinations have beeninvolved. Ocular proptosis (exorbitism),which occurs in all cases, is the hallmarkof the disorder.9 Findings are usually con-fined to the head and neck although oc-casional findings involve the extremities.Neurological findings include visual al-terations (decreased visual acuity, strabis-mus, and optic nerve hypoplasia) andacoustic abnormalities (conductive hear-ing loss). Seizures occur in 12% of casesand headache in 29%; hydrocephalus andjugular foramen stenosis with venous ob-struction also occur.9 Intelligence is usu-ally normal. Mutations in the FGFR2gene are believed responsible for all casesof Crouzon syndrome, but to date only50% of patients have known mutations.18Crouzon syndrome with acanthosis ni-gricans is a separate disorder that featuresboth conditions. It is sometimes referredto as the Crouzon dermoskeletal syn-

drome. This disorder is genetically dis-tinct from Crouzon syndrome and in-volves the specific mutation A391E (ala-nine mutated to glutamate at the 391stamino acid of FGFR3.16

Pfeiffer syndrome tends to be a moresevere disorder and has been divided intothree subtypes. It is associated with muta-tions in FGFR1 and FGFR2.6 In allthree types of Pfeiffer syndrome, brachy-turricephaly is accompanied by abnor-malities of hands and feet. The hands fea-ture broad, medially deviated thumbs andvariable brachydactyly (short fingers)while the feet exhibit broad, medially de-viated great toes and variable toe brachy-dactyly. The broad, medially deviatedthumbs and great toes are the hallmarks ofthis disorder. Individuals with Type IPfeiffer syndrome usually have normal in-telligence, moderate to severe midfacialflattening, exorbitism, typical hands andfeet, and often hearing loss and hydro-



Figure 3. Schematic diagram showing the FGFRs and known sites of mutations in specific disorders.

7

FGFR1

FGFR2

FGFR3

Pfeiffer syndrome

Crouzon syndrome

Apert syndrome

Beare-Stevenson syndrome

Muenke syndrome

Achondroplasia

Crouzon with acanthosis nigricans

Pfeiffer and/or Crouzon syndrome

Crouzon and/or Jackson-Weisssyndrome

Crouzon and/or Jackson-Weissand/or Pfeiffer syndrome

cephalus. About 5% of patients withType I have mutations in FGFR1 and95% have mutations in FGFR2.18 TypeI Pfeiffer has the most favorable progno-sis of the subtypes.

Type II Pfeiffer syndrome is caused bymutations in FGFR2 and is associatedwith mental retardation, typical hand andfeet changes, cloverleaf skull malforma-tion, ankylosis of the elbows and knees,exorbitism with inability to close the eyescompletely, hydrocephalus, seizures, andthe risk of early death. The specific dis-tinguishing feature of this disorder is thecloverleaf skull malformation.9 Type IIIPfeiffer syndrome is caused by mutationsin the FGFR2 gene. These patients aresimilar to those with Type II but lack thecloverleaf skull.9

Apert syndrome features brachyturri-cephaly and various degrees of exor-bitism. The hands are distinguished bysoft tissue and bony syndactyly (mittenhand), which is the hallmark of this dis-order. The thumbs can be free or fusedto the fingers. The feet exhibit similarchanges. Intelligence varies, with at least50% exhibiting mental retardation.9Apert syndrome is caused by mutationsin FGFR2, and more than 98% of thecases have identifiable mutations.18

Muenke craniosynostosis (also referredto as FGFR3-associated coronal synosto-sis syndrome) is a variable craniosynosto-sis syndrome in which patients can havebilateral or unilateral coronal synostosis orno craniosynostosis at all.17 Some muta-tion-positive individuals exhibit mega-cephaly as their only feature. The ex-tremities in Muenke are also variable, butcarpal tarsal fusion is typical. All cases ofMuenke craniosynostosis are caused bymutations in FGFR3.

Jackson-Weiss and Beare-Stevensonsyndromes are rare causes of craniosynos-tosis related to mutations in FGFR2.Jackson-Weiss syndrome is distinguishedby relatively mild craniosynostosis andtypical foot findings, including broad andmedially deviated great toes, as well as var-ious abnormalities of the tarsal bones.10Beare-Stevenson syndrome is remarkablefor cutaneous findings. In addition tomild craniosynostosis, these patients ex-hibit redundant skin (cutis gyrata) and

acanthosis nigricans.3 All exhibit mentalretardation. Many exhibit unusual so-matic features, including pyloric stenosis,an anteriorly placed anus, and genitalanomalies.

Other Disorders Featuring Cranio-synostosis and NonFGFR Mutations

Saethre-Chotzen syndrome is a com-mon and variable craniosynostosis syn-drome caused by mutations in theTWIST gene.8 Typical manifestationsinclude facial asymmetry, a low anteriorhairline, small ears, ocular proptosis, andasymmetric craniosynostosis. Digital ab-normalities include two to three cuta-neous syndactyly and brachydactyly. In-telligence is usually normal although mildmental retardation has been reported.9Boston-type craniosynostosis is a rareform with a highly variable phenotypethat can include fronto-orbital recession,frontal bossing, brachyturricephaly, anda cloverleaf skull or nonpenetrance. Ithas been related to a mutation on theMSX2 gene.13

Antley-Bixler syndrome is a rare con-dition characterized by craniosynostosis,radiohumeral synostosis, joint contrac-tures, and femoral bowing. Recently, ithas been shown to be due to mutationsin the P450 oxoreductase gene. Thesame phenotype occurs in fluconazoleembryopathy and is due to inhibition ofthe P450 oxoreductase gene by highdoses of the antifungal fluconazole dur-ing pregnancy.1

Primary Craniosynostosis WithoutKnown Mutations

As noted, there are more than 100well-established genetic syndromes withknown modes of inheritance. Amongthe most common are Carpenter syn-drome, craniofrontonasal dysplasia,Baller-Gerold, Philadelphia-type crani-osynostosis, Shprintzen-Goldberg, andOpitz C syndrome.

Secondary CraniosynostosisCraniosynostosis can occur pre- or

postnatally on a nongenetic basis. Com-pression of the fetal skull in the thirdtrimester can cause closure along a spe-cific suture. Compression can be caused

by fetal positioning or by extrinsic com-pressive forces such as uterine anatomy ora twin. Craniosynostosis can also be dueto metabolic conditions such as hyper-thyroidism, mucopolysaccharidosis, orrickets.5 Craniosynostosis has been asso-ciated with various syndromes caused byteratogens including diphenylhydantoin,valproic acid, aminopterin, retinoic acid,and fluconazole.5 Finally, craniosynosto-sis can occur when the brain fails to growas in extreme microcephaly.

Molecular Biology of theCraniosynostosis Syndromes

Mutations in three FGFRs haveemerged as central to the common cra-niosynostosis syndromes. FGFRs are re-ceptors for circulating FGFs. SeventeenFGRs are known regulators of cell pro-liferation, differentiation, and migra-tion.14 Each stimulates a cell membrane-associated FGFR. Surprisingly, there isno specificity between the stimulatingFGF and the stimulated FGFR. Con-sequently, any FGF can stimulate anyFGFR.

The FGFR molecule has three do-mains: an extracellular domain, a trans-membrane domain, and a cytoplasmicdomain. The extracellular domain con-sists of three immunoglobulin-like do-mains. The binding of the FGF to theFGFR occurs at the second and third im-munoglobulin-like domains. After aninitial binding of FGF and FGFR, theFGFR binds to another FGFR andforms a dimer. As noted, any FGF canbind with any FGFR and the dimeriza-tion can occur with any FGFR.

The extracellular binding and dimer-ization stimulate the third domain of theFGFR, a split cytoplasmic tyrosine-kinase domain. Once the tyrosine-ki-nase domain is stimulated, it stimulates acomplex sequence of intracellular sig-naling. The intermediate domain, theintramembranous domain, anchors thereceptor to the cell. However, muta-tions in this domain can be associatedwith malformation syndromes, particu-larly achondroplasia, a mutation ofFGFR3 associated with decreased limbgrowth.

8



Remarkably, the FGFRs are respon-sible for restraining growth. Mutationsthat enhance the activity of these recep-tors can cause decreased growth, as seenin achondroplasia. Mutations that de-crease the activity of these receptorswould be less likely to restrain growthand are said to be “hypermorphic.” Earlyfusion of a cranial suture is a hypermor-phic event.

Mapping the three involved FGFRsshows that Pfeiffer syndrome has beenassociated with mutations in FGFR 1and 2. Strictly speaking, this findingsuggests what is suspected clinically:Pfeiffer syndrome is heterogeneous.Crouzon’ syndrome is associated withmutations in all three immunoglobulin-like domains of FGFR2. Apert syn-drome is associated with mutationsbetween two immunoglobulin-like do-mains. Remarkably, two separate fam-ilies, one with Crouzon and one withApert, have been associated with thesame mutation. This phenomenon isstill unexplained.

Neurological Considerationsin Craniosynostosis

Neurologic alterations are commonin syndromic craniosynostosis and lesscommon in isolated craniosynostosis.Not surprisingly, patients with substan-tial alterations in skull shape have neuro-logical abnormalities. However, not allneurological abnormalities can be attrib-uted to the bony changes. Some neuro-logical changes are primary defects thataccompany the synostosis rather than theconsequence of the craniosynostosis. Thisfinal section reviews the major neurolog-ical alterations associated with craniosyn-ostosis syndromes.

Mental RetardationMental retardation is a common com-

plication of craniosynostosis. In primarynonsyndromic craniosynostosis with onlyone fused suture, the rates of retardationare low. Estimates range from 2.4 to4.8%,4 which is similar to the general pop-ulation. When a second or third sutureis involved, retardation becomes morecommon. With the complex and multi-

ple craniosynostosis associated with oxy-cephaly and cloverleaf skull, retardation isvery common.

There are no reliable figures for the in-cidence of mental retardation associatedwith syndromic synostosis although rea-sonable estimates have been offered. In-dividuals with Crouzon syndrome appearto be among the least likely to exhibitmental retardation, with only 3% ex-hibiting “marked” retardation.9 Saethre-Chotzen syndrome is much like Crouzonsyndrome in that affected individuals aretypically normal.

Type I Pfeiffer syndrome is usually as-sociated with normal intelligence, butindividuals with Types II and III typical-ly exhibit severe retardation. Mental re-tardation is likely overestimated in Pfeif-fer syndrome by a factor of two or threebecause of the severe visual and audito-ry abnormalities in these individuals.The frequency of retardation associatedwith Apert syndrome is variable. Themean IQ of such individuals is 70.9 Fewindividuals have an IQ higher than 100,but occasionally patients with Apert syn-drome have a high IQ.4 Thus Apert syn-drome and normal or high intelligenceare compatible. The intellectual perfor-mance of individuals with FGFR3(Muenke) craniosynostosis is relativelymildly affected, but 37% are said to havemild developmental problems.9

The cause of mental retardation is notreadily explained, but it is often attrib-uted to the increased intracranial pres-sure caused by hydrocephalus or de-creased venous drainage or to anatomicchanges related to brain distortion. Pri-mary comalformations of the brain areonly rarely considered a cause of retar-dation.

Increased Intracranial PressureIncreased intracranial pressure is also

relatively common in the craniosynosto-sis syndromes. The increased pressuretends to be low grade and chronic. Severeheadaches occur in 30 to 50% of cases ofsyndromic synostosis,4 and these head-aches may be correlated with increasedintracranial pressure. Intracranial hyper-tension can also lead to papilledema,which can cause optic atrophy and even

blindness. Optic atrophy can also resultfrom local factors such as foraminal steno-sis or closure.

HydrocephalusHydrocephalus is most common in

patients with multiple sutural synostosis,and its incidence appears to be highest inCrouzon syndrome. The site of ob-struction is most often at the basal cis-terns, but aqueductal stenosis is also re-ported. Increasingly, jugular venousobstruction is being recognized as thecause of the hydrocephalus.

Cranial Nerve DysfunctionThe optic and auditory nerves appear

to be the cranial nerves most common-ly affected in craniosynostosis. As noted,dysfunction of the optic nerve is a con-sequence of increased intracranial pres-sure or of stenosis of the optic foramina.

Some degree of optic atrophy occursin as many as 20% of patients withCrouzon syndrome,12 and this incidencehas been estimated to be as high as 80%.2The frequency of optic atrophy is lowerin almost all craniosynostosis syndromesand occasionally in nonsyndromic synos-tosis. Again, the greater the number of su-tures involved, the more likely it is thatoptic atrophy will develop. Other ocularproblems include strabismus and irrita-tion of the cornea from exposure causedby exorbitism.

Abnormalities of the auditory nerveare also important findings that necessi-tate audiological evaluation of all patientswith craniosynostosis. Although con-ductive hearing loss is the most commoncause of hearing in these syndromes,nerve deafness also occurs.

Diagnostic EvaluationAn abnormal head shape or size sug-

gests the presence of craniosynostosis.Typically, the normal shape is exaggerat-ed either with a very brachycephalic ordolichocephalic head. An asymmetrichead is associated with unilateral suturalinvolvement or with positional plagio-cephaly. When a markedly brachyce-phalic, dolichocephalic, or plagiocephal-ic head is encountered, the possibility of

9



craniosynostosis must be considered. Avery microcephalic head should also raisethe possibility of early sutural closure. Fi-nally, very unusual head shapes, such asacrocephaly or cloverleaf skull, also sug-gest craniosynostosis.

The initial evaluation for craniosyn-ostosis can be challenging. First, care-ful palpation of the skull sutures for pa-tency or “heaping-up” is undertaken.If the suture is nonpatent at an age whenit should be patent or if there is a raisedarea along the suture (heaping-up), cra-niosynostosis should be considered. Ex-perienced clinicians can often distin-guish between patent and nonpatentsutures, but imaging techniques may beneeded. Standard x-ray evaluation canbe helpful, but standard or three-di-mensional computed tomography isoften necessary.

Once the presence of craniosynosto-sis is confirmed, the patient should beexamined for extracranial findings thatmight indicate a specific syndrome. Theeyes and extremities are most helpful inthis regard. The presence of hyper-telorism or exorbitism is typical of syn-dromic synostosis. Alteration of thehands and feet, either with cutaneous orbony syndactyly, or broadening of thethumbs or great toes is particularly com-mon.

After the patient is examined, a de-tailed pregnancy and family history isnecessary. Exposure to teratogens duringearly pregnancy or a family history of un-usually sized or shaped heads can indi-cate an etiology for the patient’s abnor-malities. It also can help determine thepatient’s prognosis and the risks of recur-rence for subsequent pregnancies.

Although some patients exhibit clear-cut syndromic diagnoses, it is often stillnecessary to test the patient with molec-ular probes. Thus, if a patient has whatappears to be Crouzon syndrome, thephysician should still attempt to identifythe specific mutation involved and to de-termine the possibility that one parent isvery mildly affected and the associated riskfor subsequent pregnancies. Moreover,if a specific mutation is identified in achild, this information can be used to testsubsequent pregnancies for the same al-

teration. If a patient exhibits an unclassi-fiable pattern of changes, molecularprobes can be used in an attempt to definethe specific mutation involved.

Molecular diagnostic laboratories nowoffer testing for specific gene alterations(i.e., FGFR1, 2 or 3 or the TWIST mu-tation). Clinicians can also request a cra-niosynostosis panel that evaluates all in-volved genes. Clinicians often encounterpatients with syndromic synostosis with-out a specific mutation identified, espe-cially in Crouzon syndrome. With astrong family history of craniosynostosisand no identified gene, it is sometimespossible to identify mutations with com-plete sequencing of the known genes.This option is usually available on a re-search basis.

ConclusionCraniosynostosis is a relatively com-

mon disorder of children, and its etiol-ogy is heterogeneous. Causes may begenetic, developmental, teratogenic,metabolic, or idiopathic. Recently, themolecular biology of several cranio-synostosis syndromes, particularly theFGFR-related disorders, has been elu-cidated. This understanding, however,has introduced new levels of complexi-ty that are not yet clearly understood.

References1. Aleck K, Bartley D: Multiple malformation syn-

drome following fluconazole use in pregnancy:Report of an additional patient. Am J Med Genet72:253-256, 1997

2. Bertelsen TI: The premature synostosis of thecranial sutures. Acta Ophthalmol (Copenh)36:1-176, 1958

3. Bratanic B, Praprotnik M, Novosel-Sever M: Con-genital craniofacial dysostosis and cutis gyratum:The Beare-Stevenson syndrome. Eur J Pediatr153:184-186, 1994

4. Camfield PR, Camfield CS: Neurologic aspects ofcraniosynostosis, in Cohen MMJr (ed): Cranio-synostosis: Diagnosis, Evaluation, and Manage-ment. New York: Raven Press, 2001, pp 215-226

5. Cohen MM, Jr.: The etiology of craniosynosto-sis, in Cohen MM, Jr. (ed): Craniosynostosis. Di-agnosis, Evaluation, and Management, 1st ed.New York: Raven Press, 1986, pp 59-79

6. Cohen MM, Jr.: Pfeiffer syndrome update, clinicalsubtypes, and guidelines for differential diagno-sis. Am J Med Genet 45:300-307, 1993

7. Cohen MM, Jr., MacLean RE: Craniosynostosis.Diagnosis, Evaluation, and Management, 2nd ed.New York: Oxford University, 2000

8. el Ghouzzi V, Le Merrer M, Perrin-Schmitt F, et al:Mutations of the TWIST gene in the Saethre-Chotzen syndrome. Nat Genet 15:42-46, 1997

9. Gorlin RJ, Cohen MM, Jr., Hennekam RCM: Syn-dromes of the Head and Neck, 4th ed. New York:Oxford University, 2001

10. Heike C, Seto M, Hing A, et al: Century of Jack-son-Weiss syndrome: further definition of clinicaland radiographic findings in “lost” descendantsof the original kindred. Am J Med Genet 100:315-324, 2001

11. Hunter AG, Rudd NL: Craniosynostosis. I. Sagit-tal synostosis: Its genetics and associated clini-cal findings in 214 patients who lacked involve-ment of the coronal suture(s). Teratology 14:185-193, 1976

12. Kreiborg S: Crouzon syndrome. A clinical androentgencephalometric study. Scand J PlastReconstr Surg Suppl 18:1-198, 1981

13. Ma L, Golden S, Wu L, et al: The molecular basisof Boston-type craniosynostosis: The Pro148—>His mutation in the N-terminal arm of the MSX2homeodomain stabilizes DNA binding without al-tering nucleotide sequence preferences. HumMol Genet 5:1915-1920, 1996

14. Mason IJ: The ins and outs of fibroblast growthfactors. Cell 78:547-552, 1994

15. McKusick V: Fibroblast growth factor receptor2: OMIM #176943. http://www.ncbi.nlm.nihgov/entrez/dispomim.cgi?id=176943, 2004

16. Meyers GA, Orlow SJ, Munro IR, et al: Fibroblastgrowth factor receptor 3 (FGFR3) transmem-brane mutation in Crouzon syndrome with acan-thosis nigricans. Nat Genet 11:462-464, 1995

17. Muenke M, Gripp KW, McDonald-McGinn DM, etal: A unique point mutation in the fibroblastgrowth factor receptor 3 gene (FGFR3) defines anew craniosynostosis syndrome. Am J HumGenet 60:555-564, 1997

18. Robin NH, Falk MJ: FGFR-related craniosynosto-sis syndromes (FGFR-related): Gene reviews:www.genetests.org, 2003

19. Rutland P, Pulleyn LJ, Reardon W, et al: Identicalmutations in the FGFR2 gene cause both Pfeifferand Crouzon syndrome phenotypes. Nat Genet9:173-176, 1995

20. Schell U, Hehr A, Feldman GJ, et al: Mutationsin FGFR1 and FGFR2 cause familial and sporadicPfeiffer syndrome. Hum Mol Genet 4:323-328,1995

21. Todd TW, Lyons DW: Endocranial suture closure:1. Adult males of white stock. Am Phys Anthro-pol 8:23-25, 1924

10



11BARROW QUARTERLY • Vol. 23, No. 2 • 2007

Principles of Craniofacial Surgery†

The German, Max Picard, wrote that“A man is as good as his face appears

to be. The essence of man dwells in thefront of his face.” Jean Cocteau wrote “Ifthere is a defect on the soul, it cannot becorrected on the face. But, if there is adefect on the face and one corrects it, itcan correct the soul.” Indeed, deformi-ties of the face significantly affect a per-son’s life, especially young impressionablechildren trying to define themselves asindividuals.

Throughout history, and even amongmedical professionals, facial deformity hasbeen equated with mental retardation.This concept has been perpetuated bythe movie and advertising industries. In-deed, the unfortunate child born with asevere facial deformity has little chanceof developing healthy self-esteem, whichis required to lead a normal life. Oneneeds only to meet one such child to re-alize the severe inner torment that is en-dured each day.

Craniofacial centers, using an interdis-ciplinary approach, have been establishedto treat such children. The developmentof craniofacial techniques has made pos-sible osteotomies of all facial bones andrepositioning in almost any direction nec-essary, including repositioning the brainwithin the cranium. The result has of-ten improved the appearance, behavior,achievement, and self-esteem of patients.7This article briefly reviews the history ofcraniofacial surgery and considers how aninterdisciplinary team approach helps op-timize outcomes for patients.

History of Craniofacial SurgeryThe first efforts to correct facial skele-

tal deformities began during World War I,

The essential principle of care for those affected by a craniofacial anomaly is theinterdisciplinary approach. The craniofacial healthcare team evaluates and planstreatment using established protocols individualized for each patient’s uniqueexpression of his or her syndrome. The axioms of craniofacial surgery, establishedby Dr. Paul Tessier, have their roots in lessons learned from the treatment of fa-cial injuries in World War II. Ideal timing of surgery, meticulous planning, use offacial skeletal osteotomies, autogenous bone grafts, rigid fixation, distraction os-teogenesis, and soft tissue repair are the essential elements of craniofacial sur-gical reconstruction.

Key Words: cranial grafts, craniofacial surgery, craniofacial syndromes,craniofacial team

Craniofacial Center, Barrow Neurological Institute, St. Joseph’s Hospital and Medical Center,Phoenix, Arizona

‡Craniofacial Center and Children’s Rehabilitative Services, Barrow Neurological Institute, St.Joseph’s Hospital and Medical Center, Phoenix, Arizona

†Adapted from Beals SP: Principles of craniofacial surgery. BNI Quarterly 2(1):17-21, 1986.

Stephen P. Beals, MD

Patricia Glick, DMD‡


which produced severe traumatic defor-mities that required repositioning of frac-tured facial bones or reconstruction ofmissing parts. Techniques and conceptsdeveloped further during World War II.Subsequently, these techniques were ap-plied to the correction of congenital cra-niofacial deformities.

Many surgeons have helped advancethe field of craniomaxillofacial surgery.Three surgeons, however, have mademajor contributions. Sir Harold Gilliesmade the transition between reconstruc-tion of traumatic deformities to correc-tion of major congenital deformities.Professor Hugo Obwegeser developedtechniques for correcting the lower fa-cial skeleton. Dr. Paul Tessier, however,is the true pioneer of contemporary cra-niofacial surgery (Fig. 1).1

In 1957 Tessier saw a 20-year-old pa-tient with severe exorbitism and agrotesque craniofacial configuration. Helater recognized this set of deformities asCrouzon disease and realized that the or-bital maxillary and facial abnormalitiesmust be treated simultaneously. As hestudied the problem, he realized that aradical solution was necessary. He prac-ticed on cadavers at the Department ofAnatomy in Nantes. Later, at surgery, headvanced the entire facial skeleton 2.5cm using bone grafts to fill the spaces. Inthe late 1950s and 1960s, he treated otherpatients with craniosynostosis and or-bital hypertelorism. He waited 3 yearsbefore operating on his first case of orbitalhypertelorism, obviously a reflection ofthe respect that he had for this radical sur-gery.

In 1967 in Montepellier, Tessier pre-sented his first case at the meeting of theFrench Society of Plastic Surgery. Hispresentation was well received, but itsfull impact was not appreciated until hereported his work at the InternationalCongress in Rome in 1967.2,16 Subse-quently, Tessier invited about 20 peo-ple, including several leading plastic sur-geons and specialists in other disciplines,to observe his techniques. He request-ed their criticism and stated that hewould stop this surgery immediately ifthey thought the procedure was too rad-ical. The group was amazed and en-

thusiastic about his techniques, and hecontinued.11

Violating many of the conventionalsurgical principles of the day, Tessierproved that his radical approaches allowedsevere, previously untreatable deformitiesto be corrected. His guiding fundamen-tal principle was as follows: If a craniofa-cial defect was caused by an underlyingskeletal deformity, the only solution wasto reposition the skeleton or to recon-struct it with autologous bone grafts.

Based on this principle, Tessier devel-oped three techniques previously con-sidered impossible. First, extensive areasof the craniofacial skeleton could bedevascularized completely by strippingthe periosteum and repositioning thebones. Second, circumferential mobi-lization of the orbital contents allows theeye to be moved in any of the three planeswithout affecting vision. Finally, simul-taneous intracranial and extracranialsurgery, which would allow radicalmovement of the orbit and skull for re-construction, could be performed.These three principles remain funda-mental to craniomaxillofacial surgery.

The Team ApproachFrom the inception of contemporary

craniofacial surgery, Tessier worked withmany specialists of the head region tohelp him evaluate and treat these patients.Professionals of all disciplines who are in-terested in head and neck diseases havemany overlapping areas of expertise. Inthe 1960s it was established that childrenwith clefts are best treated by well-coor-dinated teams of specialists. In the 1970scraniofacial deformity teams evolvedfrom teams treating patients with cleftsof the lip and palates.5,6 The rationale forsuch a team is well accepted: Patientswith craniofacial deformities and theirfamilies have a complex interplay of phys-ical, mental, and emotional factors thatrequire expertise not possessed by a sin-gle health-care discipline.

Today this “healthcare team” is thedominant organizational structure for thedelivery of care to patients with cranio-facial differences. The contemporarycraniofacial team is based on an interdis-ciplinary model. The team meets regu-larly to assess and plan, and each profes-sional performs an individual assessmentof the patient before sharing findings andagreeing on recommendations.14 Thekeys to success for the interdisciplinaryteam are vigilant concern for the patient,shared input, and respect across profes-sional lines. Ultimately, the overall phys-ical and emotional health of these com-plicated patients depends on the clinicalexpertise of each team member and onmeaningful participation from the pa-tient and family.13

Several factors created the need for ateam approach to provide patients withcraniofacial deformities with the appro-priate comprehensive treatment. First,the nature of craniofacial deformities re-quires that specialized professionals fromthe many disciplines related to the headevaluate and treat these patients (Table 1).The role of each team member is welldescribed in the literature.2,4-6 Second,the rarity of these deformities does notallow a sufficient number of cases for spe-cialists in every medical center to gain thenecessary experience and skill to man-age these patients safely. Third, the es-tablishment of craniofacial centers allows

12

Beals et al: Principles of Craniofacial Surgery


Figure 1. Paul Tessier. From Jackson IT,Munro IR, Salyer KE, Whitaker LA (eds):Atlas of Craniomaxillofacial Surgery, St.Louis: Mosby, 1982. Copyright Elsevier,1982.

longitudinal study of patients to docu-ment long-term outcomes of treatment.Such follow-up is essential to foster thedevelopment of new ideas and to evalu-ate the effect of these radical procedureson the growth of the craniofacial skele-ton. Finally, the reality of health care de-mands that this interdisciplinary care beperformed as cost effectively as possible.Increasingly, third-party payers and stateagencies for disabled children favor cen-tralization of care.4,6

To be successful, a craniofacial teamrequires an adequate number of patients,enthusiastic input from each participat-ing professional, and strong organization.The goals of the team are to diagnose,to plan and execute treatment, and toprovide long-term follow-up that con-siders all the ramifications of the disorderand its treatment.

Craniofacial teams often have a med-ical director dedicated to the treatmentof craniofacial disorders. A parallel non-medical administrator or coordinator isresponsible for organizing and coordi-nating activities among the various pro-fessionals, agencies, patient, and family.The team meets regularly to assess pa-tients. The results of these evaluationsmust be communicated to the patient,responsible agencies, and primary-careproviders.17 Good organization and opencommunication are essential to insurethat patients receive the appropriate care.

For the patient with an acquired orcongenital facial deformity, the team ap-

proach provides the best opportunity forgathering, analyzing, and assembling in-formation. In turn, this process pro-vides the basis for the most accurate andcomplete diagnosis, prognosis, and treat-ment plan.13

PlanningCraniofacial team members must be

trained to think about major skeletal de-formities. When correction of a crani-ofacial deformity is planned, facial pro-portions must be emphasized. In thelower face, there are many ways toachieve normal occlusion. Not all ofthese methods, however, would provideaesthetically pleasing facial proportions.It is also important to understand the nat-ural history underlying the growth anddevelopment of a given deformity in re-lationship to a normal face.

Evaluation begins with clinical as-sessment by the craniofacial surgeon.Problems are noted and analyzed indi-vidually. The craniofacial surgeon mustorganize a preoperative assessment ofeach problem prepared in conjunctionwith the other team members. The neu-roradiologist has the key role of delineat-ing the craniofacial skeletal anomaly.Three-dimensional computed tomog-raphy is essential for this purpose. Whena patient’s orbits must be moved duringsurgery, the neuro-ophthalmologist mustprovide a detailed assessment. The or-thodontist evaluates the patient’s occlu-

sion and must plan the corrections.Members of the psychosocial disciplinesare especially important in evaluating thepatient’s mental capacities, emotional mi-lieu, and the impact of the deformity onthe patient and family. These profes-sionals make projections about the effectof the corrective surgery, which may beindicated or contraindicated on the basisof emotional considerations alone. Theunique perspective of these team mem-bers helps keep the other members awareof the larger picture.3

After the patient’s assessment is com-pleted, each participating member makesrecommendations at the team meeting.The craniofacial surgeon then assimilatesthese findings and determines the finaltreatment plan.9

Timing of SurgeryIn patients whose deformity merits

surgical treatment, four factors affect thetiming of their procedure: their age, theeffect of further growth, the severity ofthe deformity, and the psychosocial ef-fects on patient and family.2

As a general guideline and if techni-cally feasible, it is preferable to operateon patients at as young of an age as pos-sible.1 Growth does not improve skele-tal deformities. Indeed, some problems(exorbitism and malocclusion) becomeworse with growth. Delaying treatmentcan require more radical surgery withless chance of achieving the best out-comes.

Psychosocial concerns, however, of-ten override all other factors. Childrenmust develop a healthy self-esteem to be-come well-adjusted adults. Children whospend their formative years among peerstormented about their disfigurement areunlikely to develop a good self-image.Thus, it is better to treat certain defor-mities surgically at an early age eventhough some procedures may need tobe repeated as growth alters the correc-tions that were achieved. Indeed, it iseasier for patients to cope with their de-formities if treatment markedly improvestheir appearance and they know that fu-ture surgery will improve their appear-ance even more.8

13



Anesthesiology OrthodonticsAnthropology OtolaryngologyAudiology PediatricsComputer sciences PedodonticsGenetics PhotographyMedical illustration Plastic surgeryNeuroradiology ProsthodonticsNeurology PsychiatryNeurosurgery PsychologyNursing RadiologyOphthalmology Social servicesOral surgery Speech pathology

Table 1. Disciplines Represented on a Craniofacial Team

With these concepts in mind, gener-al guidelines have been established to de-termine the timing for surgical correc-tion of some deformities. Patients bornwith craniosynostosis should be treatedwithin the first 6 to 9 months, preferablywithin the first few months of life. Like-wise, encephaloceles should be correct-ed as early as possible. Orbital hyper-telorism or dystopia, which requiresmoving the entire orbit, is difficult tocorrect technically before the age of 2years. Advancing the infant’s foreheadmay help prevent exorbitism. At the ageof 5 or 6 years, the skeleton is matureenough to advance the forehead andmaxillary bones simultaneously. Exor-bitism severe enough to cause visualchanges or corneal exposure can forceearly intervention. Patients with severemaxillary retrusion can develop sleepapnea because their nasopharyngealspace is severely compromised. Thesepatients also may require early maxillaryadvancement.

Patients with Treacher-Collins syn-drome should undergo periorbital cor-rection before they begin school. Theirjaw and occlusal problems are best treat-ed after their secondary dentition haserupted and they have completed growthas an adolescent. Patients with craniofa-cial microsomia have a wide range of ex-pressivity. Patients with severe casesshould undergo earlier skeletal correc-tion and construction of absent bonethan those with mild cases.2

Typically, problems are not correct-ed surgically until after facial growth iscompleted. Again, however, psychoso-cial considerations may dictate earlierintervention in patients with severeproblems even though they may needsurgery later.

Surgery

AnesthesiaThe anesthesiologist and surgeon

must have a close working relationship,each understanding the potential prob-lems of the other. The anesthesiologistmust be familiar with the techniques ofneuroanesthesia, pediatric anesthesia, and

hypotensive anesthesia. Preoperatively,the patient requires a clinical evaluation,and rapport should be established withthe patient and family. The airway andpotential difficulty with intubation mustbe assessed. Maxillary, mandibular, andcervical spine anomalies often mustbe considered. Blood must be cross-matched for 1.5 times the estimated lossof blood volume.

Controlled hypotensive anesthesia isan asset to craniofacial surgery. Mean ar-terial pressure is reduced to about two-thirds of the patient’s normal value. Thistechnique greatly facilitates surgery. Itnot only decreases the amount of bloodloss and thus the amount needed fortransfusion, it also reduces the length ofthe operation.

Postoperatively, severe swelling iscommon and airway precautions dom-inate. Patients with intermaxillary fix-ation may need to remain intubatedfrom several hours to several days. Post-operative pain is usually minimal in thehead and neck; it is primarily associatedwith rib and iliac bone graft donor sites.The administration of analgesics shouldbe minimized after intracranial proce-dures.12

Basic PrinciplesThe keys to successful craniofacial

surgery are careful preoperative plan-ning, skillful technical execution of theosteotomies, and rigid fixation. Thelatter allows rapid bony healing and pre-vents relapse.9

The use of bone grafts is an impor-tant tool in craniofacial surgery. They areused to fill gaps of advanced segments, toconstruct missing segments, and to cor-rect an abnormal contour by onlay graft-ing.2 Three different sites can be used:iliac, rib, and cranial bone grafts. Al-though still preferred by many surgeons,iliac bone grafts have lost popularity be-cause of their associated morbidity. Nev-ertheless, it is a good source of bonewhen indicated. Furthermore, it is thebest source of cancellous bone, which isused to graft alveolar cleft defects. Ribgrafts and split cranial grafts are the mostcommon donor sites in craniofacial sur-gery. Rib grafts have the advantage of

easy harvest and ease of contouring inareas such as the orbit and zygoma. Cos-tochondral bone grafts are used to re-construct the ramus and temporoman-dibular joints in patients with hemifacialmicrosomia. They are also used for nasalreconstruction.

The use of split cranial bone repre-sents one of the recent advances in cra-niofacial surgery. The bone can be har-vested through well-concealed scalpincisions by one of two techniques. If arelatively small amount of bone is need-ed and a craniotomy is unnecessary, theouter table can be harvested with the useof burs and osteotomes. The inner tableis left intact to protect the brain. If larg-er amounts of bone are needed or a cra-niotomy is otherwise necessary, the bonesegments can be removed as a full thick-ness piece and split using a power saw.The outer table is replaced to reconstructthe cranium.15

For many craniofacial surgeons, a splitcranial graft is the first choice because ofthe ease of harvesting, minimal morbid-ity and postoperative pain, and mini-mization of operative sites. Furthermore,cranial bone is membranous bone, as is alarge proportion of the craniofacial skele-ton; therefore, it is thought to undergoless resorption than other types of grafts.12Compared to the use of rib grafts, an-other advantage is that a large sheet ofcranial bone can be harvested. The sheetallows reconstruction of major facial seg-ments without the need to combinemany smaller segments as is requiredwhen rib grafts are used. The procedureis then less time-consuming, and the graftprovides more stability to the recon-struction during the early stages of heal-ing. The one disadvantage of split crani-al bone that remains to be solved is thatit is much less pliable than rib grafts. Thus,it may not always be applicable when thisfeature is necessary, such as in orbital re-construction.

Over time, the preferred surgical in-cision in craniofacial surgery has changed.In 1957 when Tessier performed his firstcorrection of Crouzon syndrome, heused multiple facial incisions. Bicoronalincisions provided excellent exposure tothe cranium and upper facial skeleton.

14



15



As the specialty has developed, the num-ber of facial incisions has decreased. Al-most all procedures can now be per-formed through a bicoronal incision(Fig. 2), intraoral incision, or a combi-nation of the two. These incisions areoften even adequate to correct orbitalhypertelorism. Formerly, a disfiguringmidline incision over the nose was con-sidered necessary.

ComplicationsThe primary major complications as-

sociated with craniofacial surgery includedeath, brain damage, blindness, and in-fection. A large combined report of 793operations performed at six centers de-tailed some of the problems and compli-cations associated with craniomaxillofa-cial surgery.18 The complication rate was16.5%, and the mortality rate was 1.6%.The rate of blindness was less than 1%and that of brain damage was 0 to 0.5%.Infection occurred in 4.4% of cases. Fac-tors that reduced morbidity and im-proved outcomes were hypotensive an-esthesia, short operative time, rigidstabilization of the mobilized bones at theend of the operation, few incisions, andextensive antibiotic therapy.

Munro and Sabatier reported their ex-perience of more than 12 years with 2,019craniomaxillofacial procedures performedin 1,092 patients.10 Their overall mortal-ity rate was 0.64%; the mortality rate di-rectly related to surgery was 0.18%. Majorcomplications occurred in 14.3% of pa-tients, but few had permanent sequelae.Infection, the most common complica-tion, occurred in 5.3% of major opera-tions. The authors noted that the inci-dence of complications was partiallyrelated to inexperience with craniomax-illofacial surgery. As they gained experi-ence, their annual incidence of compli-cations decreased to 5.4%. Experiencecreates familiarity, which is a major factorin reducing the length of surgery. Thislearning curve lends further support tothe essential concept of performing cra-niomaxillofacial surgery at a major centerwhere the craniofacial team obtains ex-perience to develop and maintain exper-tise in performing these complicated pro-cedures.

ConclusionCraniofacial surgery requires patients

to be treated by a large specialized mul-tidisciplinary team that can obtain ad-equate experience to maintain theirsurgical expertise. A multidisciplinaryapproach increases the safety of the pro-cedures, improves technique, and al-lows longitudinal study of large groupsof patients. The timing of surgical in-tervention depends on the patient’sgrowth, functional problems, and psy-chosocial considerations. The teammust consider that young children needto develop self-esteem to function nor-mally as adults. The keys to technicalsuccess of craniofacial surgery are goodplanning, precise execution of the os-teotomies, and rigid fixation. The de-velopment of patients’ social skills, inter-

Figure 2. (A) The bicoronal incision provides good exposure of the (B) entire uppercraniofacial skeleton.

A

B

16



personal relationships, opportunities foreducation and career, personal expec-tations, and goals in life are all affected byhow they perceive themselves and byhow others perceive and react to themin return. Appropriate craniofacial sur-gery performed by an experienced in-terdisciplinary team can help optimizeoutcomes for patients with craniofacialdeformities.

References1. Freihofer HP: The timing of facial osteotomies in

children and adolescents. Clin Plast Surg9:445-456, 1982

2. Jackson IT, Munro IR, Salyer KE: Atlas of Cra-niomaxillofacial Surgery. St. Louis: Mosby, 1982

3. Lefebvre A, Munro I: The role of psychiatry in acraniofacial team. Plast Reconstr Surg 61:564-569, 1978

4. Marsh JL, Vannier MW: Comprehensive Care forCraniofacial Deformities. St. Louis: Mosby, 2006

5. McCarthy JG: The concept of a craniofacialanomalies center. Clin Plast Surg 3:611-620,1976

6. Munro IR: Orbito-cranio-facial surgery: The teamapproach. Plast Reconstr Surg 55:170-176,1975

7. Munro IR: Craniofacial surgery: A change of face.Can Med Assoc J 117:210-211, 1977

8. Munro IR: Early correction of craniofacial defor-mities, in Jackson IT (ed): Recent Advances inPlastic Surgery. New York: Churchill-Livingstone,1981

9. Munro IR: Panorama of craniofacial surgery, inHernahan DA, Thompson HG, Bauer BS (eds):Symposium on Pediatric Plastic Surgery. St.Louis: Mosby:136-160, 1982

10. Munro IR, Sabatier RE: An analysis of 12 years ofcraniomaxillofacial surgery in Toronto. Plast Re-constr Surg 76:29-35, 1985

11. Ortiz-Monasterio F: Atlas of CraniomaxillofacialSurgery. St. Louis: Mosby, 1982

12. Salyer KE: Recent developments in bone graft-ing, in Jackson IT (ed): Recent Advances in Plas-tic Surgery. Edinburgh: Churchill-Livingstone,1981

13. Stahl S, Chebret L, McElroy C: The team ap-proach in the management of congenital and ac-quired deformities. Clin Plast Surg 25:485-491,1998

14. Strauss RP: The organization and delivery of cra-niofacial health services: The state of the art.Cleft Palate-Craniofacial Journal 36:189-195,1999

15. Tessier P: Autogenous bone grafts taken fromthe calvarium for facial and cranial applications.Clin Plast Surg 9:531-538, 1982

16. Tessier P, Guiot G, Rougerie J, et al: [Cranio-naso-orbito-facial osteotomies. Hypertelorism]. AnnChir Plast 12:103-118, 1967

17. Thomas PC: Multidisciplinary care of the childborn with cleft lip and palate. ORL Head NeckNurs 18:6-16, 2000

18. Whitaker LA, Munro IR, Salyer KE, et al: Com-bined report of problems and complications in793 craniofacial operations. Plast ReconstrSurg 64:198-203, 1979


Distraction Osteogenesis of theCraniofacial Skeleton

Distraction osteogenesis, a techniquefor lengthening bone, uses the

body’s natural healing mechanisms togenerate new bone. An osteotomy ismade in the area of bone deficiency, anda device is placed that slowly elongatesthe bone to its new dimension whilenatural ossification produces new boneat the site of distraction.1 Before the ad-vent of distraction osteogenesis, bonelengthening or expansion was per-formed using osteotomies and bonegrafts. Expansion was limited by theconstriction of soft tissue and the vas-cularity of the graft.

In 1905 Codivilla described the firstuse of osteodistraction in orthopedicsurgery.1 As discussed in his historicaloverview,3 Ilizarov further developed thetechnique for use in the lower extrem-ities in 1949. In 1992 McCarthy et al.reported the first application of distrac-tion osteogenesis to lengthen the humanmandible.5 This publication in the Eng-lish literature began the era of craniofa-cial distraction, which is now used atevery level of the craniofacial skeleton.Distraction osteogenesis is most oftenused for congenital hypoplasia orgrowth restriction, but it has also beenused for bone remodeling to fill gapsfrom posttraumatic defects or cancer re-section.9

The advantage of distraction osteo-genesis is that it mimics the normalphysiologic process, allowing time forsoft tissue to remodel and adapt. Ex-pansion of the soft tissue envelope is thesingle most beneficial aspect that enablesgreater skeletal distraction than can beachieved in traditional operations. Dis-traction osteogenesis also shortens sur-gical times and lengths of hospital stay,

Since the early 1990s, distraction osteogenesis, a bone-lengthening technique,has evolved for use in craniofacial surgery. This article reviews the applications,advantages, and disadvantages of distraction osteogenesis of the craniofacialskeleton.

Key Words: bone remodeling, craniofacial surgery, distraction osteo-genesis, hemifacial microsomia

Abbreviations Used: CT, computed tomography; HFM, hemifacial mi-crosomia

Craniofacial Center, Barrow Neurological Institute, St. Joseph’s Hospital and Medical Center,Phoenix, Arizona

Davinder J. Singh, MD


obviates the need for bone grafting, re-duces the likelihood of relapse, reducesthe likelihood of transfusions, and offersconsiderable postoperative control overthe distraction of one or more bone seg-ments.6,7,9

Process of Distraction Osteogenesis

The process of distraction osteogen-esis begins with preoperative planning,continues through several stages, andculminates with removal of the device.Preoperative planning entails decidingon the location of distraction on thecraniofacial skeleton and obtaining ap-propriate imaging studies such as three-dimensional CT, models, and cepha-lography. To some extent, the patient’s

age and size dictate the rate of distrac-tion. Devices can be uni-, bi-, or mul-tidirectional, and they can be internal orexternal.6 Before the device is placed,especially in the case of unidirectionaldevices, the vector must be determined.Vector placement determines the direc-tion of elongation or movement.2 Afterpreoperative planning has been com-pleted and the device has been selected,the osteotomies are performed and thedevice is placed. After surgery, distrac-tion osteogenesis proceeds according tothe phases of healing.

Distraction osteogenesis entails threemain healing phases: latency, activation,and consolidation. Latency is the pe-riod that follows the osteotomy and ap-plication of the device; it ranges from1 to 7 days depending on the patient’s

age. The latency period is followed bythe activation phase in which the dis-tractor device is activated to lengthenthe gap between the bones. The de-vice lengthens the gap 1 mm/day.This rate allows callus to form and thesoft tissue envelope to expand slow-ly. After the appropriate length hasbeen reached, the consolidation phaselasts twice as long as the time requiredfor activation. During consolidation,the device provides temporary fixationas the bone heals in its new position.After the bone has healed, the device isremoved.5,9

Applications of DistractionOsteogenesis to the Cranio-facial Skeleton

Distraction osteogenesis can be usedin most parts of the craniofacial skele-ton and has been described for man-dibular distraction, maxillary distractionat the Le Fort I level, maxillary distrac-tion at the Le Fort III level, frontal facial(monoblock) distraction, and calvarialdistraction.9 Distraction osteogenesisis most often used for distracting themandible or maxilla because it is ideal forcorrecting hypoplasia of these areas.7

Mandibular hypoplasia is associatedwith both functional and aesthetic con-cerns. Functional concerns include air-way compromise, feeding difficulties,speech problems, and dentition.8 Man-dibular distraction is indicated in pa-tients with hemifacial or bifacial mi-crosomia, Treacher-Collins syndrome,Pierre Robin sequence, and posttrau-matic growth disturbance.6

HFM is one of the most commoncongenital anomalies with an incidenceof about 1 in 5000 births.4 In numerouscases of HFM, the mandible has beendistracted with adequate bone to length-en (Fig. 1). In cases of severe hypoplasia,bone grafting is performed first. Thenthe graft is lengthened via distraction asthe child grows. In a growing child, thisstrategy offfers the opportunity to im-prove function and appearance withoutleaving permanent hardware, whichposes issues with growth restriction.5Devices may be internal or external based

18

Singh: Distraction Osteogenesis of the Craniofacial Skeleton


D

Figure 1. Three-dimensional (A) frontal and (B) lateral CT scans of a 8-year-old boy withright HFM and a Pruzansky Type IIB mandible. (C) Lateral cephalogram shows semi-buried mandibular distractor after full activation and lengthening. (D) Postoperative three-dimensional CT scan shows the increase in the length and volume of the right mandibu-lar ramus.

A B

C

on the patient’s age, size, and degree ofdeformity.

Midface deficiency can also be cor-rected with distraction. Indications in-clude severe maxillary hypoplasia and theneed for more than 10 mm of distrac-tion. Patients with a cleft lip and palatewho have significant palatal scarring arecandidates, as are patients with syndromessuch as Apert and Crouzon who have se-vere midface retrusion.9 Advancement ofthe maxilla at the LeFort I (Fig. 2) andIII (Fig. 3) levels improves airway, masti-cation, speech, and appearance.

Distractor devices can be either inter-nal or external. Internal devices improvecosmetic appearances and reduce the like-lihood of dislodgement. However, notall patients are candidates for internal de-vices. The more hypoplastic the bone is,the less room there is for internal devices

and the greater is the need for the use ofexternal devices. Postoperatively, exter-nal devices offer more vector control andfine tuning of the distraction. In contrast,the internal device has a fixed vector thatmust be decided intraoperatively.

Complications related to the proce-dure are hardware infection and expo-sure, dislodgement of the device, devicefailure, premature consolidation, mal-union, and nonunion.7,9 Most patientstolerate the distraction process well.However, distraction requires a high de-gree of compliance by the patient andfamily because it necessitates daily main-tenance and limits activities.

ConclusionCompared to traditional orthognath-

ic procedures, distraction osteogenesis of

the craniofacial skeleton allows superioradvancements in treatment and reducesthe likelihood of relapse. Not all patientsrequire such a large amount of distrac-tion, and a role for conventional, single-stage procedures still exists. However, inseverely affected patients and in patientswho are still growing, distraction osteo-genesis has revolutionized the craniofa-cial surgeon’s ability to improve functionand aesthetics in patients at a younger agethan was once possible.

References1. Codivilla A: The Classic: On the means of length-

ening in the lower limbs, the muscles and tissueswhich are shortened through deformity. Clin Or-thop Relat Res 301:4-9, 1994

19



Figure 2. (A) Lateral cephalogram of a 17-year-old male with a unilateral cleft lip andpalate and maxillary hypoplasia and retru-sion. (B) Lateral cephalogram after externaldistraction at the Le Fort I level with a halodevice shows Class I occlusion.

Figure 3. (A) Lateral cephalogram of a 7-year-old boy with Apert syndrome and midfacial hypoplasia who underwent advancement atthe Le Fort III level for exorbitism and Class III malocclusion. (B) Three-dimensional model of this patient showing placement of internaldistractor appliances for advancement at the Le Fort III level. (C) Lateral cephalogram at the completion of distraction shows the ad-vancement of the midface and the improved proportions of the face and occlusion.

A B

A B C

2. Grayson BH, Santiago PE: Treatment planningand vector analysis of mandibular distraction os-teogenesis. Atlas Oral Maxillofac Surg ClinNorth Am 7:1-13, 1999

3. Ilizarov GA: Clinical application of the tension-stress effect for limb lengthening. Clin OrthopRelat Res 250:8-26, 1990

4. Kaban LB, Moses MH, Mulliken JB: Surgical cor-rection of hemifacial microsomia in the growingchild. Plast Reconstr Surg 82:9-19, 1988

5. McCarthy JG, Schreiber J, Karp N, et al: Length-ening the human mandible by gradual distrac-tion. Plast Reconstr Surg 89:1-8, 1992

6. McCarthy JG, Stelnicki EJ, Mehrara BJ, et al: Dis-traction osteogenesis of the craniofacial skele-ton. Plast Reconstr Surg 107:1812-1827, 2001

7. Mofid MM, Manson PN, Robertson BC, et al: Cra-niofacial distraction osteogenesis: A review of3278 cases. Plast Reconstr Surg 108:1103-1114, 2001

8. Singh DJ, Bartlett SP: Congenital mandibular hy-poplasia: Analysis and classification. J Cranio-fac Surg 16:291-300, 2005

9. Yu JC, Fearon J, Havlik RJ, et al: Distraction os-teogenesis of the craniofacial skeleton. PlastReconstr Surg 114:1E-20E, 2004

20




Oral Manifestations of SelectedCraniofacial Conditions

In 1998 the United States Maternal andChild Health Bureau defined “children

with special health care needs” as “chil-dren who have or are at an increased riskfor chronic physical, developmental, be-havioral, or emotional conditions, andwho also require health and related ser-vices of a type or amount beyond that re-quired by children generally.”28 Thisgroup includes but is not limited to chil-dren born with clefts of the lip and palate,craniofacial syndromes such as Apert andTreacher-Collins syndrome, and chro-mosomal abnormalities such as Downsyndrome and 22q11.2 deletion syn-drome. In addition to multisystem organinvolvement, many of these patients ex-perience significant dental morbidity.Consequently, they require coordinateddental, orthodontic, and surgical treat-ment plans. Coordinated care amongsurgeons, dental professionals, and otherspecialists is the standard of care for indi-viduals with clefts of the lip and palate andcraniofacial conditions. This article de-scribes the oral and associated manifesta-tions of a select group of patients withspecial health care needs.

Cleft Lips and Cleft PalatesCleft formation is a complex embry-

onic process. Isolated clefts of the palateinvolve the uvula minimally and can in-volve the entire secondary palate (up tothe incisive foramen). Unilateral clefts ofthe lip and palate involve the primarypalate (lip to incisive foramen) as well asthe secondary palate (uvula to incisive fo-ramen). Bilateral clefts of the lip and palateinvolve the primary and secondarypalates. Furthermore, clefts can be com-plete, as described above, or incomplete

Children born with clefts of the lip and palate; craniofacial syndromes such asApert, oculoauriculovertebral, and Treacher-Collin syndrome; and chromosomalabnormalities such as Down syndrome and 22q11.2 deletion syndrome experi-ence significant dental morbidity. Their treatment is best planned by an inter-disciplinary team approach. In this and other countries, coordinated care amongsurgeons, dental professionals, and other specialists is considered the standardof care. Because these children have high rates of oral anomalies, early screen-ing, careful monitoring, and coordination of related services are important com-ponents of their comprehensive care.

Key Words: 22q11.2 deletion syndrome, Apert syndrome, cleft lip, cleftpalate, cleidocranial dysplasia, craniosynostosis, hemifacial microsomia,Treacher-Collins syndrome

Abbreviation Used: HFM, hemifacial microsomia

Craniofacial Center and Children’s Rehabilitative Services, Barrow Neurological Institute, St.Joseph’s Hospital and Medical Center, Phoenix, Arizona

Patricia Glick, DMD


involving less tissue. Genetically and em-bryologically, clefts of the primary palateand clefts of the secondary palate are dis-tinct entities.

The prevalence of complete clefts ofthe lip and palate (unilateral and bilateral)is higher than that of isolated clefts of thepalate. Although the prevalence variesamong populations, on average 1 in 750infants is born with a unilateral or bilater-al cleft of the lip and palate. Interesting-ly, the prevalence of isolated cleft palates,which is 1 in 2000, is constant across pop-ulations. The frequency of systemic mal-formations associated with unilateral andbilateral clefts of the lip and palate is 26.2%while that of isolated cleft palates is51.7%.5 Boys are affected with clefts ofthe lip and palate twice as often as girls, butgirls are affected with isolated clefts of thepalate twice as often as boys.

The clefting process and subsequentsurgical interventions both contribute toclinically observable oral manifestations.Complete unilateral cleft lip and palate isa risk factor for poor midfacial growthand frequently results in severe antero-posterior jaw disharmony. There is a gen-eral retrusion of the entire profile, in-cluding the nasal bone and both upperand lower jaws. Class III malocclusion iscommonly observed (Table 1). The cra-nial base angle is more obtuse in a unilat-eral cleft population than in the unaffect-ed population. The vertical height ofthe anterior upper midface is reducedwhile that of the anterior lower midfaceis increased. The result is an increase inthe total height of the face. Hypoplasiaof the posterior maxilla contributes toovereruption of posterior permanentteeth and undereruption of anterior teeth.The combined result is reduced overbiteand overjet.34

The profile of an adolescent with acomplete unilateral cleft lip and palate ischaracterized by a relatively large noseand a retrusive lip emphasized by the un-derlying maxillary hypoplasia.10 In anadolescent with a complete bilateral cleftlip and palate, the premaxilla protrudesand Class II malocclusion is often ob-served. This configuration improveswith growth, and in adulthood the max-illa often achieves the same anteroposte-

rior position as in a noncleft individual.30

In individuals with a bilateral cleft lipand palate, the nasal bone is longer andthe base is wider.39 The length of the an-terior cranial base is disproportionatelysmaller than the total length of the crani-al base. The length of both the maxillaand mandible is reduced.43 Similar to in-dividuals with a unilateral cleft lip andpalate, the height of the posterior maxil-lary alveolus is hypoplastic. Concomi-tantly, the posterior permanent teethovererupt.43 The maxillary incisors areovererupted and retroclined. They canbe improved with orthodontic treatmentand growth but usually retain some retro-clination.

Besides the obvious discontinuity oftissue surfaces and scarring associated withsurgical repair, many oral manifestationsare associated with clefting. Natal orneonatal teeth are far more prevalent inthe cleft population than in the noncleftpopulation. Their prevalence is 2% in in-fants with a unilateral cleft and 10% inthose with a bilateral cleft. Unlike thenoncleft population, neonatal teeth in thecleft population are usually present in themaxillary incisor region. Neonatal teethin the cleft population are most oftenfound in male babies.8

In the case of a child with a unilater-al cleft lip and palate, the lateral incisor,when present, erupts distal to the cleft inboth the primary and permanent denti-tion 82.4% of the time.44 Approximately

half of all children with a unilateral cleftlip and palate with a primary cleft sidelateral incisor are missing the permanentcleft side lateral incisor. In rare instancesa child with an absent cleft side primarylateral incisor has the permanent cleftside lateral incisor.40 The cleft side per-manent lateral incisor is absent 50.2% ofthe time. In 10.9% of patients with acomplete unilateral cleft lip and palate,the noncleft side permanent lateral in-cisor is missing.23 After the cleft side lat-eral incisor, the maxillary left second pre-molar is the tooth most often absent.23

One in four patients with a unilateralcleft lip and palate has an absent or su-pernumerary tooth not involving theteeth adjacent to the cleft.44 Typically,more severe clefts are associated with ab-sent teeth.

After absence of the cleft side lateralincisor, the most common abnormali-ties involve the size and shape of the cleftside tooth. Enamel defects of cleft sidecentral incisors are significantly moreprevalent when compared to the non-cleft side. Permanent cleft side incisorshave more enamel defects than primarycleft side incisors. In both primary andpermanent dentitions, the defect is mostoften a yellow opacity of the incisalthird.25 The obvious prevalence of asso-ciated oral anomalies in individuals withclefts of the lip and palate underscoresthe need for early observation and care-fully planned intervention.

22

Glick: Oral Manifestations of Selected Craniofacial Conditions


Class Maxilla Mandible Overjet Clinicalpresentation

I Within normal Within normal Within normal Maxillary incisorslimits limits limits in contact with

mandibularincisors

II Prognathic Retrognathic Excess Maxillary incisorsanterior to mandibular incisors

III Retrognathic Prognathic Reverse Mandibular incisorsanterior to maxillary incisors

Table 1. Classification of Dental Occlusions

Apert SyndromeCraniosynostosis, the premature fu-

sion of one or more calvarial sutures, oc-curs in 1 in 2500 births.29 This congen-ital defect is mostly an isolated finding.However, it is also part of about 100 dif-ferent syndromes, including Muenke,Crouzon, Jackson-Weiss, Pfeiffer, Beare-Stevenson, and Apert syndrome amongothers.

Apert syndrome occurs in 1.5 of100,000 births.42 It is characterized bymidface hypoplasia, bilateral symmetrichand and foot syndactyly, and craniosyn-ostosis. The syndrome has an autosomaldominant mode of transmission. Mostcases are from sporadic mutations.

Individuals with Apert syndrome havesevere malocclusions caused by signifi-cant craniofacial and dental abnormali-ties that require the coordinated servicesof a craniofacial team to treat. Minimal-ly, at birth the coronal sutures are fused,and a wide midline calvarial defect is pre-sent. Cranial-base abnormalities includereduced length of the anterior cranial baseand platybasia.3 These abnormalitiescontribute to midface deficiency and ananterior open bite. Orbital hypertelo-rism, shallow orbits, ocular motility dis-turbances, a depressed nasal bridge, a“bird-beak”-shaped nose, and a trape-zoidal-shaped mouth are also commonfindings.

An isolated cleft palate is observed inabout a third of patients. In the absenceof a cleft, the soft palate is long and thick,a feature that sometimes contributes torespiratory distress. In contrast, the hardpalate is short. Clinically, the palate is highand arched. It is typically described ashaving a “byzantine” shape. A deep mid-line palatal furrow accentuates with ageas mucopolysaccharides accumulate.Subsequent compression of the dentalarch and midface hypoplasia combine toproduce a V-shaped maxilla that is defi-cient in the transverse dimension.

Ectopic eruption of the maxillary firstpermanent molars and palatal eruption ofthe maxillary second premolars are com-mon. Supernumerary teeth and absenceof teeth have been reported. Dental delayof one year is present by age 6 and in-creases with time.19 Severe crowding and

Class III malocclusion with a posteriorcross bite are universal findings. Patientswith Apert syndrome always require care-ful dental monitoring and frequently re-quire staged orthodontic care.

22q11.2 Deletion SyndromeThe deletion of chromosome 22q11.2

is one of the most common human ge-netic syndromes with an estimated inci-dence of 1 in 4000 live births.6 This dele-tion accounts for almost all cases ofvelocardiofacial, DiGeorge, and cono-truncal anomaly face syndromes.9 Signif-icant phenotypic variability is associatedwith the 22q11.2 deletion syndrome, butthe basis of this variability remains unclear.The wide range of clinical features in-cludes but is not limited to congenitalheart disease, palatal abnormalities,neurologic manifestations, psychiatricfindings, learning disabilities, immunedysfunction, feeding difficulties, hypocal-cemia, renal abnormalities, characteristicfacies, and oral manifestations.27 Thesefeatures have many clinical implicationsincluding the possible need for antibioticcoverage and the likelihood of reducedsalivary flow related to systemic medica-tion side effects.

A dysmorphic facies is common inchildhood and decreases with growth intoadulthood. Characteristic findings in-clude hypertelorism with downslantingpalpebral fissures; low-set and malformedears; and a nose with a large root, nar-rowed alar base, and short tip. Childrenhave thin lips and microstomia.13 Verticalmaxillary excess and general facial musclehypotonia may contribute to a long face.Platybasia (obtuse cranial base angle) mayexplain the observed facial flatness andmild retrognathia.1

Palatal dysfunction is manifested byvelopharyngeal incompetence (29%),submucosal cleft palate (15%), overt cleftpalate (11%), bifid uvula (5%), and com-plete cleft lip and palate (1%). An addi-tional 22% have suspected but undocu-mented palatal dysfunction. Only 16%of patients exhibit no palatal dysfunc-tion.27

Children with a 22q11.2 deletion havean increased incidence of oral abnormal-

ities. Enamel irregularities in the prima-ry and permanent dentition have beenreported, and hypomineralization ofenamel has been linked to the patient’smedical condition.20 Hypodontia hasbeen noted in 13% of patients and dys-morphic crown formation in 15%.21 Aresultant increase in dental caries has beenobserved. Impaired oral health has beenreported in 28% of patients. Dentalcrowding, a single maxillary incisor, amissing mandibular central incisor, anddelayed eruption and formation of per-manent teeth have all been reported.14,16,21

Due to the high prevalence of oral anom-alies in children with the 22q11.2 dele-tion syndrome, careful dental manage-ment and optimal preventive services aresuggested.

Oculoauriculovertebral Spectrum

The oculoauriculovertebral spectrumof anomalies includes Goldenhar syn-drome and HFM. After cleft lip andpalate, HFM is considered to be the mostcommon craniofacial anomaly. It is char-acterized by mandibular hypoplasia andby ocular and auricular anomalies. Itsprevalence is 1 in 5600, and it affectsmales and females in a 3:2 ratio.12 Gold-enhar syndrome is at the more severe endof this spectrum of anomalies. In addi-tion to the above anomalies, epibulbardermoids and vertebral abnormalities alsooccur.

The origin of oculoauriculoverte-bral anomalies remains uncertain. It isknown to affect the formation of struc-tures derived from the first and secondbranchial arches. There is evidence forvascular disruption and a genetic contri-bution. Currently, its origin is consideredmultifactorial. Historically, the oculoau-riculovertebral spectrum of anomalies hasbeen described as a unilateral deformity.However, evidence suggests that bothsides of the mandible and face are affect-ed to some degree.3 Major organ in-volvement includes cardiac, central ner-vous, pulmonary, renal, gastrointestinal,and skeletal systems.

In addition to hypoplasia of themandible, the malar and temporal bones

23



and associated soft tissues are underdevel-oped. There is an association betweenthe bony malformation and underdevel-opment of the muscles of mastication.41

On the most affected side, the parotidgland may exhibit hypoplasia or aplasia.Unilateral or bilateral cleft lip and palateand cleft palate are documented in 10% ofpatients, and macrostomia is present in62% of cases. Reduced palatal width withasymmetric lifting of the soft palate,velopharyngeal incompetence, and hear-ing loss are frequent findings.12 Depend-ing on the severity of the deformity, thetemporomandibular joint may be func-tionally normal or completely absent.There is a resultant Class II asymmetricskeletal malocclusion. Consequently, adental midline deviation, occlusal planecant, and crossbite are usually present.

Patients with oculoauriculoverte-bral anomalies have dental delay on themost affected side.11 Hypodontia is morecommon in patients with oculoauricu-lovertebral anomalies than in the unaf-fected population. Its incidence has beenreported to range from 6.7% to 26.9%.22,26

Enamel defects have been observed. Onthe most affected side, the mesiodistal di-ameter of the mandibular primary mo-lars and of the mandibular permanentmolars is reduced.18 Of greater interestperhaps is that the width of both themaxillary and mandibular permanent andprimary molars is reduced on the less af-fected side.36 Patients with oculoauricu-lovertebral anomalies show significant cra-niofacial and dental abnormalities, whichhighlight their need for coordinated sur-gical, orthodontic, and dental care.

Treacher-Collins SyndromeTreacher-Collins syndrome, also

known as mandibulofacial dysostosis andFranceschetti syndrome, is a disorder in-volving structures derived from the firstand second branchial arches. The causa-tive gene, which has been identified, istransmitted as an autosomal dominant traitwith variable expressivity and penetrance.The prevalence of Treacher-Collins syn-drome is 1:50,000.35 More than half ofnew cases are considered new mutations.Hallmark features include severe man-

dibular hypoplasia, eyelid colobomas, andcharacteristic facies.

The distinctive appearance of a patientwith Treacher-Collins syndrome resultsfrom severe hypoplasia of facial bones, in-cluding the mandible, portions of thefrontal bone, supraorbital ridges, hyper-teloric orbits, and possible overt clefting ofthe malar bones. Eyelid colobomas formin the outer third of the lower lid. Ciliaare partially absent, and the palpebral fis-sures slope downward. The ears are oftenmicrotic, malformed, and malpositioned;hearing loss is common. Because facialfeatures are underdeveloped, the nose ap-pears large.

Cephalometric analysis reveals a re-duced cranial-base angle that decreasesfurther with age.31 This reduction hasimportant implications for obstructivesleep apnea, which is a significant com-plication of Treacher-Collins syndrome.The mandible has a short ramus, shortcorpus, and poorly developed symphysis.2The gonial angle is obtuse with severe an-tegonial notching of the lower border.The mandibular plane is particularlysteep. The maxilla is vertically deficientand sometimes posteriorly positionedwith a clockwise rotation of the occlusalplane.33,38 Resultant skeletal open bite,long lower facial height, and Class II andIII malocclusions are common.

Significant oral manifestations includecleft palate or, less frequently, cleft lip andpalate in 35% of patients and macrostomiain 15% of patients. In the absence of acleft palate, a high, arched palate is com-mon. The most frequent dental anom-aly is agenesis, primarily mandibular sec-ond premolars. Hypoplastic enamel isfound in 20% of patients, and the maxil-lary first permanent molars erupt ectopi-cally in 13.3% of patients.7 The parotidglands may be hypoplastic. Patients withTreacher-Collins syndrome have a highincidence of dental anomalies and shouldbe screened carefully.

Cleidocranial DysplasiaCleidocranial dysplasia is a rare inher-

ited disordered often characterized by per-sistent open fontanelles, aplasia or hy-poplasia of the clavicles, short stature,

multiple supernumerary teeth, and otherskeletal abnormalities. Hypertelorism,small or absent nasal bones, and a broadnasal base are observed. Lateral cephalog-raphy shows true wormian bones and re-duced or absent paranasal sinuses. Theheight and width of both the maxilla andmandible are underdeveloped.17 Closureof the mandibular symphysis is often de-layed, and a relative mandibular prog-nathism can result. Clinically, the face isbrachycephalic with reduced height ofthe upper anterior face.15 Class III mal-occlusion is most often observed.4

Clefts of the hard and soft palates andsubmucosal cleft palates have been docu-mented.45 The noncleft palatal configu-ration is often described as high andarched. Significant morbidity is associat-ed with major dental abnormalities. Pri-mary dentition develops and erupts nor-mally. However, it does not exfoliatenormally because the roots of the prima-ry teeth are not restored. Multiple su-pernumerary permanent teeth andnoneruption of permanent teeth are al-most always observed. Crown morphol-ogy of the supernumerary teeth is oftenabnormal. The eruption of permanentdentition has been delayed 2 to 3 years,and permanent first molars have eruptedwithout surgical or orthodontic inter-vention.37 The mandibular molar rootcan be significantly longer than normalin patients with cleidocranial dysplasia.36

Supernumerary teeth are most often ob-served in the mandibular premolar areaand in the maxillary incisor and caninearea.32 Cellular cementum of permanentteeth is lacking, and the acellular cemen-tum is hyperplastic.24 Abnormalities ofroot morphology are common. A sig-nificant handicapping malocclusion oftennecessitates a long-term, coordinated or-thodontic and surgical treatment plan.

ConclusionThe oral health of an individual is in-

terrelated to systemic health and overallwell being. Children with special healthcare needs experience oral manifestationsat a higher rate than unaffected children.These documented oral manifestationsare often responsible for significant mor-

24



25



bidity. Early screening, careful monitor-ing, and coordination of related servicesare important components of the com-prehensive care of children with specialhealth care needs.

References1. Arvystas M, Shprintzen RJ: Craniofacial morphol-

ogy in the velo-cardio-facial syndrome. J Cra-niofac Genet Dev Biol 4:39-45, 1984

2. Arvystas M, Shprintzen RJ: Craniofacial morphol-ogy in Treacher Collins syndrome. Cleft PalateCraniofac J 28:226-230, 1991

3. Cohen MM, Jr., Kreiborg S: A clinical study of thecraniofacial features in Apert syndrome. Int J OralMaxillofac Surg 25:45-53, 1996

4. Cooper SC, Flaitz CM, Johnston DA, et al: A nat-ural history of cleidocranial dysplasia. Am J MedGenet 104:1-6, 2001

5. Croen LA, Shaw GM, Wasserman CR, et al: Racialand ethnic variations in the prevalence of orofa-cial clefts in California, 1983-1992. Am J MedGenet 79:42-47, 1998

6. Cuneo BF: 22q11.2 deletion syndrome: DiGeorge,velocardiofacial, and conotruncal anomaly facesyndromes. Curr Opin Pediatr 13:465-472, 2001

7. da Silva DG, Costa B, Gomide MR: Prevalence ofdental anomalies, ectopic eruption and associat-ed oral malformations in subjects with TreacherCollins syndrome. Oral Surg Oral Med OralPathol Oral Radiol Endod 101:588-592, 2006

8. de Almeida CM, Gomide MR: Prevalence ofnatal/neonatal teeth in cleft lip and palate infants.Cleft Palate Craniofac J 33:297-299, 1996

9. Driscoll DA, Budarf ML, Emanuel BS: A geneticetiology for DiGeorge syndrome: Consistent dele-tions and microdeletions of 22q11. Am J HumGenet 50:924-933, 1992

10. Duffy S, Noar JH, Evans RD, et al: Three-dimen-sional analysis of the child cleft face. Cleft PalateCraniofac J 37:137-144, 2000

11. Farias M, Vargervik K: Dental development inhemifacial microsomia. I. Eruption and agenesis.Pediatr Dent 10:140-143, 1988

12. Gorlin RJ, Cohen MM, Levin LS: Branchial archand oroacral disorders, in Gorlin RJ, Cohen MM,Hennekam RCM (eds): Syndromes of the Headand Neck. New York: Oxford University Press,1990, pp 641-652

13. Guyot L, Dubuc M, Pujol J, et al: Craniofacial an-thropometric analysis in patients with 22q11 mi-crodeletion. Am J Med Genet 100:1-8, 2001

14. Hall RK, Bankier A, Aldred MJ, et al: Solitary me-dian maxillary central incisor, short stature, choanalatresia/midnasal stenosis (SMMCI) syndrome.Oral Surg Oral Med Oral Pathol Oral RadiolEndod 84:651-662, 1997

15. Ishii K, Nielsen IL, Vargervik K: Characteristics ofjaw growth in cleidocranial dysplasia. Cleft PalateCraniofac J 35:161-166, 1998

16. Jaquez M, Driscoll DA, Li M, et al: Unbalanced15;22 translocation in a patient with manifestationsof DiGeorge and velocardiofacial syndrome. AmJ Med Genet 70:6-10, 1997

17. Jensen BL: Cleidocranial dysplasia: Craniofacialmorphology in adult patients. J Craniofac GenetDev Biol 14:163-176, 1994

18. Johnsen DC, Weissman BM, Murray GS, et al:Enamel defects: A developmental marker for hemi-facial microsomia. Am J Med Genet 36:444-448,1990

19. Kaloust S, Ishii K, Vargervik K: Dental developmentin Apert syndrome. Cleft Palate Craniofac J34:117-121, 1997

20. Klingberg G, Dietz W, Oskarsdottir S, et al: Mor-phological appearance and chemical composi-tion of enamel in primary teeth from patients with22q11 deletion syndrome. Eur J Oral Sci113:303-311, 2005

21. Klingberg G, Oskarsdottir S, Johannesson EL, etal: Oral manifestations in 22q11 deletion syn-drome. Int J Paediatr Dent 12:14-23, 2002

22. Loevy HT, Shore SW: Dental maturation in hemi-facial microsomia. J Craniofac Genet Dev BiolSuppl 1:267-272, 1985

23. Lourenco RL, Teixeira Das NL, Costa B, et al: Den-tal anomalies of the permanent lateral incisors andprevalence of hypodontia outside the cleft area incomplete unilateral cleft lip and palate. CleftPalate Craniofac J 40:172-175, 2003

24. Lukinmaa PL, Jensen BL, Thesleff I, et al: Histo-logical observations of teeth and peridental tis-sues in cleidocranial dysplasia imply increasedactivity of odontogenic epithelium and abnormalbone remodeling. J Craniofac Genet Dev Biol15:212-221, 1995

25. Maciel SP, Costa B, Gomide MR: Difference in theprevalence of enamel alterations affecting centralincisors of children with complete unilateral cleftlip and palate. Cleft Palate Craniofac J 42:392-395, 2005

26. Maruko E, Hayes C, Evans CA, et al: Hypodontiain hemifacial microsomia. Cleft Palate Cranio-fac J 38:15-19, 2001

27. McDonald-McGinn DM, LaRossa D, GoldmuntzE, et al: The 22q11.2 deletion: screening, diag-nostic workup, and outcome of results; report on181 patients. Genet Test 1:99-108, 1997

28. McPherson M, Arango P, Fox H, et al: A new defi-nition of children with special health care needs.Pediatrics 102:137-140, 1998

29. Muenke M, Wilkie AO: Craniosynostosis syn-dromes, in Scriver CR, Beaudet AL, Valle D (eds):The Metabolic and Molecular Basis of InheritedDisease. New York: McGraw-Hill, 2001, pp 6117-6146

30. Narula JK, Ross RB: Facial growth in children withcomplete bilateral cleft lip and palate. Cleft PalateJ 7:239-248, 1970

31. Peterson-Falzone SJ, Figueroa AA: Longitudinalchanges in cranial base angulation in mandibulo-facial dysostosis. Cleft Palate J 26:31-35, 1989

32. Richardson A, Deussen FF: Facial and dentalanomalies in cleidocranial dysplasia: A study of17 cases. Int J Paediatr Dent 4:225-231, 1994

33. Roberts FG, Pruzansky S, Aduss H: An x-radio-cephalometric study of mandibulofacial dysosto-sis in man. Arch Oral Biol 20:265-281, 1975

34. Ross RB: Treatment variables affecting facialgrowth in complete unilateral cleft lip and palate.Cleft Palate J 24:5-77, 1987

35. Rovin S, Dachi SF, Borenstein DB, et al:Mandibulofacial dysostosis, a familial study of fivegenerations. J Pediatr 65:215-221, 1964

36. Seow WK, Urban S, Vafaie N, et al: Morphometricanalysis of the primary and permanent dentitionsin hemifacial microsomia: A controlled study. JDent Res 77:27-38, 1998

37. Shaikh R, Shusterman S: Delayed dental matura-tion in cleidocranial dysplasia. ASDC J DentChild 65:325-9, 355, 1998

38. Sher AE, Shprintzen RJ, Thorpy MJ: Endoscopicobservations of obstructive sleep apnea in chil-dren with anomalous upper airways: Predictiveand therapeutic value. Int J Pediatr Otorhino-laryngol 11:135-146, 1986

39. Smahel Z: Craniofacial morphology in adults withbilateral complete cleft lip and palate. Cleft PalateJ 21:159-169, 1984

40. Suzuki A, Watanabe M, Nakano M, et al: Maxillarylateral incisors of subjects with cleft lip and/orpalate: Part 2. Cleft Palate Craniofac J 29:380-384, 1992

41. Takashima M, Kitai N, Murakami S, et al: Volumeand shape of masticatory muscles in patients withhemifacial microsomia. Cleft Palate Craniofac J40:6-12, 2003

42. Tolarova MM, Harris JA, Ordway DE, et al: Birthprevalence, mutation rate, sex ratio, parents’ age,and ethnicity in Apert syndrome. Am J MedGenet 72:394-398, 1997

43. Trotman CA, Ross RB: Craniofacial growth in bi-lateral cleft lip and palate: Ages six years to adult-hood. Cleft Palate Craniofac J 30:261-273, 1993

44. Tsai TP, Huang CS, Huang CC, et al: Distributionpatterns of primary and permanent dentition inchildren with unilateral complete cleft lip andpalate. Cleft Palate Craniofac J 35:154-160, 1998

45. Winter GR: Dental conditions in cleidocranialdysostosis. Am J Orthodont 29:61-89, 1943

26 BARROW QUARTERLY • Vol. 23, No. 2 • 2007

The Rotating Stool Test: Diagnosisand Management of BenignPositional Molding

Infantile skull deformity from me-chanical factors is known by various

names, including occipital plagiocepha-ly, BPM, and nonsynostotic deforma-tional plagiocephaly. Each term has dis-advantages and advantages. In thisdiscussion, I use the term BPM. BPMinvolves distortion of the infantile headwith flattening of the occiput on one sideand milder compensatory contralateralfrontal flattening and bulging of the ip-silateral forehead and contralateral oc-ciput. The ear on the side of the occip-ital flattening is displaced forward andinferiorly.

Two synostotic conditions, both ofwhich may require surgical management,must be distinguished from BPM.Frontal plagiocephaly is caused by uni-lateral coronal craniosynostosis. It in-volves an upward and lateral distortionof the orbit called the “harlequin eye”deformity. The prominent deformity ofthe forehead and mild-to-moderate de-formation of the occiput are specific tothis condition.

Unilateral lambdoid craniosynostosismay be the rarest form of single suturecraniosynostosis and the most difficult todistinguish from BPM. The craniofacialprogram at the University of Washing-ton in Seattle has done considerable workto make this differential diagnosis easier tomake. Unilateral lambdoid synostosis in-volves an ipsilateral mastoid bulge. Theinvolved occiput is flattened, but theother skull changes are quite differentfrom BPM. In true lambdoid synosto-sis, the flattened occiput is on the sameside as the flattened forehead. Therefore,the shape of the head is that of a trapezoidrather than the parallelogram associatedwith BPM.3,4,9

The Rotating Stool Test was developed to assess the value of a maneuver for thediagnosis of BPM. A management scheme was derived from the test based onthe assessment of children referred for evaluation of abnormal head shapes.During the Rotating Stool Test, the examiner holds a child being assessed forabnormal head shape while the parent (usually the mother) sits in a fixed posi-tion across the room. As the examiner’s stool is rotated from side to side, the childattempts to continue to make eye contact with the parent. This test detects sub-tle limitations in the child’s neck mobility. No child with BPM had a normal test.Invariably, children with BPM are unable to rotate their head away from the flat-tened side of the head. They either break eye contact with the parent and lookat the examiner, or they rotate their entire body toward the parent. All patients withBPM have restricted neck movement as part of the pathophysiology of the con-dition. Mechanical treatments that concentrate on neck mobility are an impor-tant part of the management of this type of skull deformity.

Key Words: benign positional molding, occipital plagiocephaly, rotatingstool test, skull deformity

Abbreviations Used: BPM, benign positional molding; CT, computerizedtomography; SCM, sternocleidomastoid; SIDS, sudden infant death syn-drome

Division of Pediatric Neurosciences, Barrow Neurological Institute, St. Joseph’s Hospital and Med-ical Center, Phoenix, Arizona

Harold L. Rekate, MD


Radiographic studies, particularly CT,can confirm the presence or absence oftrue craniosynostosis. However, BPM isprimarily diagnosed by clinical examina-tion. The finding of a parallelogram-shaped head when viewed from the ver-tex position, as described above, almostcertainly reflects mechanical distortion ofthe head. During the examination ofmany babies who were referred for thiscondition, I noticed that the infants haddifficulty maintaining eye contact withtheir parent when they were turned awayfrom the side of the flattened occiput.This simple test also confirms the me-chanical nature of the condition and thatthe abnormality is related to a disturbanceof the musculature of the neck. This test,not previously published, has beenadopted by the American Academy ofPediatrics as part of its guidelines for thediagnosis and management of skull dis-tortion in infants.14,18

This article describes the RotatingStool Test, how it is performed, how itleads to the diagnosis of BPM, and itsvalue in emphasizing the importance ofneck-stretching exercises in the manage-ment of this condition. Although the lit-erature emphasizes the role of shorten-ing of the SCM muscle, shortening ofthe trapezius muscle may be responsiblein a significant percentage of cases.

The Rotating Stool TestThis test evolved spontaneously in my

office and reflects my personal approachto the examination of these babies. Fromthe pediatric surgical literature, I wasaware of the presence of sternomastoid“tumors.” 11,12,16 Consequently, I exam-ined the neck of each child but rarely, ifever, palpated a mass or lump. Typically,I begin the examination of a baby bypicking up and holding the infant in myarms to examine the shape of the headand to palpate the fontanel. I usually saton a rotating stool facing the parent, typ-ically the mother. As the conversationproceeded, I tended to move the stoolaround and to rotate it from side to side.When I rotated the stool toward the sideof the occipital flattening, it soon becameobvious that the baby had no trouble

maintaining eye contact with the moth-er and could move the chin all the way tothe ipsilateral shoulder (Fig. 1A). In con-trast, when I rotated the chair in the otherdirection, the baby had difficulty main-taining eye contact. The baby eitherturned toward the flat side and looked upat me or attempted to maintain contactwith the mother by rotating the entireupper body (Fig. 1B).

This test has now been performed onmore than 300 babies referred for diag-nosis and treatment of this condition. Allbabies had significant difficulty main-taining eye contact with their parentwhen the stool was rotated away fromthe side of the flattening.

The condition known as sternomas-toid torticollis leads to this form of oc-cipital plagiocephaly. This muscular tor-ticollis is considered responsible for abouta third of the cases. When a specific setof tests of sternomastoid function wasperformed, the coexistence of SCMdysfunction associated with BPM in-creased to 76% while cervical musculartorticollis was diagnosed in only 12%.7Direct examination of the neck for mus-cular torticollis is insufficiently sensitiveto detect subtle asymmetry of neck ro-tation. When the rotating stool test isused, 100% of babies with BPM will befound to have subtle problems with neckmobility.

Clinical ImplicationsWhat is the value of this simple clini-

cal assessment? First, it is very unlikelythat babies with true craniosynostosis willhave limited neck mobility. Therefore,this test is an excellent way to confirmthe diagnosis of a mechanical conditionrather than a genetically determined su-tural closure. Second, and certainly moreimportantly, the parents recognize thatthe problem is mechanical and related toneck mobility. In my opinion, the mostimportant form of treatment for this con-dition should focus on the underlyingcause. Hence, the parents need little fur-ther encouragement to perform theneeded neck-stretching exercises.

Initially, all babies with BPM shouldbe managed with neck-stretching exer-cises. Other authors have emphasizedlaying the babies prone when awake(“tummy time”) and restructuring thechild’s environment to encourage thechild to change positions. However, lim-ited neck mobility often renders theseforms of treatment futile.10,15 In contrast,my protocol for the management ofBPM strongly emphasizes stretching themuscles of the neck (Fig. 2).

27

Rekate: The Rotating Stool Test: Diagnosis and Management of Benign Positional Molding


Figure 1. Artist’s representation showinghow to perform the Rotating Stool Test.(A) When the child is rotated toward theside of flattening, the neck easily rotatesto bring the chin to the shoulder. (B) Whenrotated away from the side of the flatten-ing, the child needs to break the contactor rotate the trunk to maintain it.

A

B

To stretch the SCM muscle, the childis positioned on the changing table. Theperson changing the diaper holds thechild’s chest gently in position with thenondominant hand while holding thechild’s forehead with the dominant hand.The head is then firmly rotated until thechin lies on the shoulder. This positionis held for 10 seconds (count one 1000,two 1000, and so on). The head is thenrotated in the opposite direction andmaintained for 10 seconds. Next, atten-tion is paid to the trapezius muscles. Thehead is tipped to the side until the ear liesagainst the shoulder, and this position isheld for 10 seconds. The maneuver isthen repeated on the contralateral side.These four exercises are repeated twomore times each so that each stretch isperformed three times.

I believe that it is essential to do thesestretches frequently. Consequently, I askthat all caretakers learn how to do themand for the exercises to be performed ateach diaper change. The babies tend tobe frightened for the first few days, butthe exercises soon become part of theirnormal routine.

A baby always resists one of these ex-ercises more than the other three. Thistendency makes it possible to diagnosethe specific muscle that is involved. Asmentioned, 76% of cases of BPM can beexplained by a shortening or tighteningof the SCM muscle. In my experience,about a third of the babies needing theseneck-stretching exercises have specifictightness of the trapezius muscle ratherthan the SCM muscle. The trapezius ex-tends the head, unilaterally rotates thehead up, and tips the head to the contra-lateral side. Cases of BPM that cannotbe explained by abnormal function ofthe SCM muscle probably involve thetrapezius muscle. All BPM likely stemsfrom in utero constriction and shorten-ing of the strap muscles of the neck.

Back to Sleep and BPMThe baseline prevalence of BPM is

uncertain. Skull deformity has beenfound in skeleton remains of historic so-cieties.19 Before the Back to Sleep pro-gram was instituted by the AmericanAcademy of Pediatrics, about 3% of ba-

bies were found to have BPM; most ofthese cases resolved within the first fewmonths of life.1,2 Two processes have nowconverged to make the diagnosis andtreatment of this condition more com-mon. The first was the dissemination ofinformation as sophisticated craniofacialprograms were developed. Parents be-came aware of their children’s deformi-ties and were referred to centers whereappropriate diagnoses could be made.

The second process was the recogni-tion of the direct relationship betweenSIDS and prone-sleeping positions in1992. This awareness led to the Back toSleep program, which encouraged moth-ers to maintain their babies in a supine orside-lying position and to avoid the proneposition except when the babies wereunder constant observation and com-pletely awake.5 The success of the aban-donment of prone lying has primarilybeen attributed to media attention. Hap-pily, the incidence of SIDS has decreased40%.6 An unexpected consequence ofthis program, however, was a dramaticincrease in the number of children re-ferred and treated for BPM.10,18

28



Figure 2. Artist’s representation of the neck-stretching exercises derived from the Rotating Stool Test. (A) Neck rotation for assessingand stretching the SCM muscle. (B) Neck tipping for assessing and stretching the trapezius muscle.

A B

Personal Approach to theManagement of BPM

Early recognition of BPM or occipi-tal plagiocephaly leads to the most effec-tive management of the condition. Un-fortunately, the condition can rarely bediagnosed during the newborn period.In a well-designed Dutch Study of 380well newborns, 23 (6%) had significantdegrees of asymmetry only 9 of whichwere asymmetrical at 7 weeks of age.During that time, 75 other babies devel-oped significant asymmetry. Conse-quently, the overall percentage of babieswith significant BPM was 22% (84 of380). The flattening had occurred dur-ing the interim at the time of maximumskull plasticity. All babies receiving wellbaby care are seen at about 7 to 8 weeksof life for their initial inoculations. Atthat time, the examiner should view thebaby from the top of the head. If flat-tening is noticed at that time and neck-stretching exercises are instituted prompt-ly, it is unlikely that other forms oftreatment will ever be necessary.

Cranial remodeling helmets or bandseffectively manage BPM.1,2,8,13 Howev-er, these devices are expensive. The useof the band is analogous to orthodontia inthat the bands require frequent adjustmentto maximize their benefit. Which chil-dren require the use of the bands? Aftera thorough review of the literature on cra-nial asymmetry to determine the late neg-ative outcomes associated with this con-dition,20 I found only four cases of adultswho required surgery for this condition.Two of these four adults underwent lysisof the SCM muscle for torticollis. Therewere no reports of orthodontic or diffi-culties with the temporomandibular joint,no association with strabismus, and nofunctional deficits as a result of expectanttreatment for this condition.20

Anecdotally, after observing largenumbers of normal individuals in socialsituations such as theaters and sportingevents, I have identified only two adultswho would have wished to have beentreated for this condition during infan-cy. One was a scientist with a large headand severe plagiocephaly who had con-siderable trouble finding a football hel-met that fit.

Informally, I have also polled a largenumber of individuals who should be fa-miliar with BPM if the condition werewidespread. Barbers, hairdressers, anddentists have all denied being aware ofthe condition. The only professionalswho consistently recognized the prob-lem were opticians. They had a difficulttime fitting eye glasses for such patientsand occasionally needed to fit a pair withone wing shorter than another.

I participate in many educationalevents to make primary care physiciansand nurse practitioners aware of thisproblem so that it can be diagnosed dur-ing early infancy. If the neck-stretchingexercises can be commenced before theage of 6 months, it is unlikely that anyother form of treatment will be neces-sary. Most of these patients are now caredfor by their primary care physicians, butI have been active in the assessment oftheir need for cranial remodeling bandsto help patients obtain payment fromtheir insurance plans. I have testified be-fore the new devices committee of theArizona Health Care Cost ContainmentSystem, which is the state of Arizona’sMedicaid health maintenance organiza-tion. I have recommended that all pa-tients be assessed as early as possible aftertheir first inoculation and that they beginthe exercises. If the condition has notimproved considerably after 2 months,the patient should be considered for cra-nial remodeling therapy. This strategyhas led to improved care and decreaseddemand for cranial remodeling bands.

Several studies have shown that me-chanical treatment of BPM is effective.17One study compared mechanical treat-ment to orthotic treatment. Both wereeffective, but the time required to achievea good result was three times longer inthe patients treated mechanically com-pared to the banded patients.15 Early di-agnosis and mechanical treatment of thetorticollis are the primary ways that BPMshould be managed. The use of cranialremodeling bands should be reserved forpatients referred late or for those unre-sponsive to neck-stretching exercises.The official position of the AmericanAcademy of Pediatrics relative to surgeryfor this condition is cautious. They do

not rule out the possibility that surgerymay be necessary in some cases referredlate or resistant to treatment, but it shouldbe limited to the most severe cases.18

ConclusionCranial asymmetry and occipital flat-

tening are common, and their incidencehas grown since supine-lying strategieswere adapted to prevent SIDS. The Ro-tating Stool Test can help diagnose posi-tional molding and points to the impor-tance of mechanical treatment such asneck-stretching exercises in the manage-ment of this common condition.

References1. Clarren SK: Plagiocephaly and torticollis: Etiolo-

gy, natural history, and helmet treatment. J Pe-diatr 98:92-95, 1981

2. Clarren SK, Smith DW, Hanson JW: Helmet treat-ment for plagiocephaly and congenital muscu-lar torticollis. J Pediatr 94:43-46, 1979

3. Ehret FW, Whelan MF, Ellenbogen RG, et al: Dif-ferential diagnosis of the trapezoid-shaped head.Cleft Palate Craniofac J 41:13-19, 2004

4. Ellenbogen RG, Gruss JS, Cunningham ML: Up-date on craniofacial surgery: The differential di-agnosis of lambdoid synostosis/posterior pla-giocephaly. Clin Neurosurg 47:303-318, 2000

5. Gibson E, Cullen JA, Spinner S, et al: Infant sleepposition following new AAP guidelines. AmericanAcademy of Pediatrics. Pediatrics 96:69-72, 1995

6. Gibson E, Dembofsky CA, Rubin S, et al: Infantsleep position practices 2 years into the “Backto Sleep” campaign. Clin Pediatr (Phila) 39:285-289, 2000

7. Golden KA, Beals SP, Littlefield TR, et al: Sterno-cleidomastoid imbalance versus congenital mus-cular torticollis: Their relationship to positionalplagiocephaly. Cleft Palate Craniofac J 36:256-261, 1999

8. Graham JM, Jr., Gomez M, Halberg A, et al: Man-agement of deformational plagiocephaly: Repo-sitioning versus orthotic therapy. J Pediatr 146:258-262, 2005

9. Huang MH, Mouradian WE, Cohen SR, et al: Thedifferential diagnosis of abnormal head shapes:Separating craniosynostosis from positional de-formities and normal variants. Cleft Palate Cra-niofac J 35:204-211, 1998

10. Hutchison L, Stewart A, Mitchell E: Infant sleepposition, head shape concerns, and sleep posi-tioning devices. J Paediatr Child Health 43:243-248, 2007

11. Krugman ME, Canalis R, Konrad HR: The ster-nomastoid “tumor” of infancy. J Otolaryngol 5:523-529, 1976

29



30



12. Ling CM, Low YS: Sternomastoid tumor andmuscular torticollis. Clin Orthop Relat Res 86:144-150, 1972

13. Littlefield TR, Beals SP, Manwaring KH, et al:Treatment of craniofacial asymmetry with dy-namic orthotic cranioplasty. J Craniofac Surg 9:11-17, 1998

14. Longaker MT, Posnick JC, Rekate HL: Cranio-synostosis and skull molding. J Craniofac Surg9:572-600, 1998

15. Loveday BP, de Chalain TB: Active counterposi-tioning or orthotic device to treat positional pla-giocephaly? J Craniofac Surg 12:308-313, 2001

16. Macdonald D: Sternomastoid tumour and mus-cular torticollis. J Bone Joint Surg Br 51:432-443, 1969

17. Moss SD: Nonsurgical, nonorthotic treatment ofoccipital plagiocephaly: What is the natural his-tory of the misshapen neonatal head? J Neuro-surg 87:667-670, 1997

18. Persing J, James H, Swanson J, et al: Preventionand management of positional skull deformitiesin infants. Pediatrics 112:199-202, 2003

19. Pospihilova B, Prochazkova O: Paleopathologi-cal findings of dry skulls with plagiocephaly. ActaMedica (Hradec Kralove) 49:219-226, 2006

20. Rekate HL: Occipital plagiocephaly: A critical re-view of the literature. J Neurosurg 89:24-30,1998

cover and comments 23-2 -for website · primary craniosynostosis with known mutations. most of the...

Documents