concomitant occurrence of hypohyperdontia in a patient with marfan syndrome: a review of the...
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REVIEW ARTICLE
Oral Biosciences
Concomitant occurrence of hypohyperdontia in a patientwith Marfan syndrome: a review of the literature andreport of a caseSreekanth K. Mallineni1, Jayakumar Jayaraman1, Cynthia K.Y. Yiu1 & Nigel M. King2
1 Paediatric Dentistry and Orthodontics, Faculty of Dentistry, University of Hong Kong, Hong Kong, China
2 School of Dentistry, University of Western Australia, Perth, Western Australia, Australia
Keywords
hypodontia, hypohyperdontia, Marfan
syndrome, southern Chinese, supernumerary
teeth.
Correspondence
Prof Cynthia Yiu, Paediatric Dentistry and
Orthodontics, Faculty of Dentistry, The
University of Hong Kong, Prince Philip Dental
Hospital, 34 Hospital Road, Hong Kong,
China.
Tel: +852-2859-0256
Fax: +852-2559-3803
Email: [email protected]
Received 26 March 2012; accepted 24 April
2012.
doi: 10.1111/j.2041-1626.2012.00148.x
AbstractMarfan syndrome is an autosomal dominant genetic disorder of connective tis-
sue origin that can affect multiple organs. Various oral manifestations have
been associated with this syndrome. Hypohyperdontia is a condition of mixed
numeric variations that presents a combination of hypodontia with hyperdon-
tia within a single human dentition. The purpose of this paper is to report a
case of Marfan syndrome with a concomitant occurrence of hypohyperdontia.
A narrative review was also included to describe the other syndromes that had
been associated with concomitant hypohyperdontia.
Introduction
Marfan syndrome (MFS) is an autosomal dominant
genetic disorder of connective tissue that can affect multi-
ple organs. The prevalence is estimated to be one to two
affected individuals per 10 000 live births.1 It has been
reported that mutations of fibrillin-1 results in the classic
form of MFS.2 The characteristic features of MFS include
tall stature, elongated extremities, scoliosis, protruded or
caved-in breastbone, dolichocephaly, and cardiac anoma-
lies. A deep palatal vault with maxillary constriction,
maxillary retrognathism, mandibular prognathism, tem-
poromandibular joint hypermobility, and enamel and
dentine defects are among the most frequently-occurring
orofacial abnormalities.3
The term “concomitant hypohyperdontia” has been
used to describe the presentation of hypodontia and hy-
perdontia in the same individual.4 This condition was
initially named “oligopleiodontia”,5 and later the term
“hypohyperdontia” was adopted along with “concomi-
tant”.6 Since then, the term “concomitant hypohyper-
dontia” has frequently been used to describe this
phenomenon. It has been suggested that hypodontia
and hyperdontia are opposite extremes of the develop-
ment as scale of the dentitions.7 Hypodontia is
described as the condition where fewer than the regular
number of teeth are present, while hyperdontia is the
condition of having additional teeth to the normal
complement. The concomitant occurrence of both hyp-
odontia and hyperdontia in an individual entity is a
condition of mixed numeric variation, and the occur-
rence is extremely rare. Despite the existing wealth of
reports devoted exclusively to hypodontia or hyperdon-
tia, only a few studies have reported the occurrence of
both numeric anomalies in the same individual.7,8 Thus,
hypohyperdontia can be considered an extremely rare
ª 2012 Wiley Publishing Asia Pty Ltd 253
Journal of Investigative and Clinical Dentistry (2012), 3, 253–257
Table
1.Review
oftheoccurren
ceofconcomitan
thypohyperdontiain
syndromic
patients
Author
Year
Age(years/m
onths)
Sex
Hypodontia
Hyperdontia
Archinvolved
Condition
Ran
ta9
1983
5.0
Male
53,63,74,34
Supplemen
tal72,32
Maxillaan
dman
dible
Bilateralcleftlip
andpalate
Ran
ta10
1987
6.10
Female
16,15,25,26,35
Supplemen
tal52,12
Maxillaan
dman
dible
Dubowitzsyndrome
Macpherson11
1991
6.0
Female
52,62
Supernumerariesin
83,82,
72regions
Maxillaan
dman
dible
Fucosidosis
Trotm
anan
d
McN
amara12
1994
9.0
Female
15
Supplemen
tal11,21,31
Maxillaan
dman
dible
Cleftpalatean
dab
norm
alities
ofcervical
verteb
rae
Chow
and
O’Donnell13
1997
12.5
Female
15,45
Supernumerariesin
32,
42regions
Maxillaan
dman
dible
Downsyndrome
Hattabet
al.14
1998
9.0
Male
12,22,31,32,33,
41,42,43
Mesioden
sMaxillaan
dman
dible
Ellis–van
Creveld
syndrome
7.6
Female
12,22,31,32,41,42
Supernumerarytooth
in
11region
Maxillaan
dman
dible
Ellis–van
Creveld
syndrome
Acerbiet
al.15
2001
12.0
Male
15,25,34,35,45
Mesioden
sMaxillaan
dman
dible
Downsyndrome
daSilvaet
al.8
(10cases)
2008
28.7
Male
12,22
Man
dibularan
teriorregion
Maxillaan
dman
dible
G/BBBsyndrome
34.9
Male
12
19.9
Male
12,22,37,47
17.8
Male
12,11,21.22
16.4
Male
12
12.9
Male
12,25
19.0
Male
12,22
11.1
Male
12
13.6
Male
12,22
9.8
Male
15,22
3supernumeraryteeth,
24region
Maxilla
Aminab
adiet
al.16
2010
5.0
Female
53,51,61,71,82,12,
35,33,32,31,41,42,
43,45
Supernumerarytooth
in24region
Maxillaan
dman
dible
Ellis–van
Creveld
syndrome
Presen
tcase
2012
5.0
Male
82,42
2supernumerariesin
51,61regions
Maxillaan
dman
dible
Marfansyndrome
254 ª 2012 Wiley Publishing Asia Pty Ltd
Hypohyperdontia in Marfan syndrome S.K. Mallineni et al.
condition, with reported prevalence figures ranging from
0.002% to 3.1%.7
The purpose of this article was to describe a rare case
of Marfan syndrome with the presence of concomitant
hypohyperdontia. A narrative review of other syndromes
associated with hypohyperdontia was also performed.
Review of the literature
Materials and methods
A narrative review was performed to describe the occur-
rence of hypohyperdontia with different syndromes. This
review differs from a systematic review by involving a gen-
eral discussion of the subject and having no stated hypoth-
esis. An extensive search of the reported literature from
January 1966 to December 2010 was conducted using the
Medline, Embase, and PubMed databases. The key words
used in the search strategy were “concomitant”, “agenesis”,
“supernumerary teeth”, “hypodontia”, “hyperdontia”,
“syndromes”, and “hypohyperdontia” in various combina-
tions. The citation lists from the included references were
subsequently examined, and a hand search was also per-
formed in an attempt to identify additional reports.
Results
The literature search yielded 20 cases of the occurrence of
hypohyperdontia with different syndromes (Table 1).8–16
The syndromes that were reported to exhibit hypohyper-
dontia include bilateral cleft lip and palate (1), cleft palate
and abnormalities of cervical vertebrae (1), Down syn-
drome (2), Dubowitz syndrome (1), Ellis–van Creveld
syndrome (4), fucosidosis (1), and G/BBB syndrome (10).
Among the 20 reported cases, the occurrence of hypohy-
perdontia was observed in both the maxillary and man-
dibular arches. The rare occurrence of hypohyperdontia
in the same arch (maxilla) was reported in a patient with
G/BBB syndrome. The report of the concomitant occur-
rence of hypohyperdontia in MFS was not identified from
the literature.
Clinical report
A Chinese boy was referred by a private dental practi-
tioner for the management of supernumerary teeth in the
anterior region of the maxilla. He was 4.5 years old at the
time of referral, and was the only child of a non-consan-
guineous Chinese couple. Soon after a normal full-term
delivery, he was diagnosed with MFS. Subsequently, he
was found to have tricuspid regurgitation, mitral regurgi-
tation, aortic and pulmonary regurgitation, and mild
mitral valve prolapse. A detailed family history further
revealed that the child’s mother was also affected by MFS.
He was otherwise a normal and cheerful boy, except for a
few occasional occurrences of mood swings, according to
his mother.
Extra-orally, the patient presented with a symmetrical
face and competent lips. His height and weight were 127
cm (more than the 97th percentile) and 21.9 kg (75th per-
centile), respectively, at the age of 6.5 years. At the time of
presentation, he was in primary dentition, and his oral
hygiene was inadequate. He brushed his own teeth twice
daily. The maxillary arch was parabolic, while the mandib-
ular arch was U-shaped. An erupted supernumerary tooth
was present in the maxillary arch palatal to tooth 51, and
carious lesions were evident in relation to teeth 55 and 65.
In the mandibular arch, tooth 82 was missing, and caries
was evident in relation to teeth 75, 84, and 85. The radio-
graphic examination confirmed the clinical findings and
revealed the presence of a normally-oriented erupted
supernumerary tooth in relation to tooth 51, and addition-
ally, an impacted supernumerary tooth in relation to tooth
61, which was also normally oriented (Figure 1). The
patient was highly uncooperative, so he was scheduled for
comprehensive restorative treatment and extraction of the
two supernumeraries under general anesthesia. Although
the unerupted supernumerary tooth was in a favorable
position with normal orientation, it was decided that the
unerupted supernumerary tooth would be surgically
extracted under general anesthesia because of his uncoop-
erative behavior. However, the parents refused to have the
proposed treatment under general anesthesia.
Discussion
MFS was first described by the French pediatrician,
Antoine Bernard-Jean Marfan in 1896.17 The oral mani-
festations, although not specific, are identifiable during
routine intraoral examination. They include constriction
of the maxilla, a high-arched palate, crowding, and a
Figure 1. Cropped panoramic radiograph showing two supernumer-
ary teeth in the anterior maxillary region (arrows), and the missing
tooth 82 and germ of tooth 42 (dashed arrows).
ª 2012 Wiley Publishing Asia Pty Ltd 255
S.K. Mallineni et al. Hypohyperdontia in Marfan syndrome
posterior cross-bite. A dolichofacial face type and skeletal
class II malocclusion have been commonly noted in
patients with MFS.18 To date, the dental literature on
MFS has largely been confined to the reporting of the
presence of a high palatal vault as a major clinical mani-
festation of the syndrome.19,20 The various reported oral
manifestations of patients with MFS are summarized in
Table 2.3,21–31
In the southern Chinese population, the reported prev-
alence of supernumerary teeth is 2.6%, and these super-
numerary teeth are most commonly found in the anterior
region of the maxilla.32 The reported prevalence of hyp-
odontia in the primary and permanent dentitions is 4.1%
and 7.3%, respectively, with the most commonly missing
permanent tooth being a mandibular incisor.32,33 Further-
more, the occurrence of supernumerary and hypodontia
in patients with MFS has recently been reported.30
Although several hypotheses have been postulated on the
phenomenon of tooth agenesis, the concept of a polygenic
multifactorial model of etiology still provides a possible
explanation for hypodontia.34 Similarly, several theories,
including atavism, dichotomy, hyperactivity of the dental
lamina, and the concept of multifactorial inheritance,
have been proposed to explain the etiology of supernu-
merary teeth. Nevertheless, the etiology of hypohyperdon-
tia is not clearly understood. It has been suggested that
disturbances in migration, proliferation, and differentia-
tion of neural crest cells associated with interactions
between the epithelial and mesenchymal cells during the
initiation of odontogenesis might be responsible for this
condition.35 As shown in Table 1, the occurrence of hyp-
ohyperdontia in syndromic patients has occurred mostly
in patients with G/BBB syndrome. Moreover, one patient
exhibited hypohyperdontia in a single arch (the maxilla),
which is a rare occurrence.8 The association between the
hypohyperdontia condition and syndromes is poorly
recorded in the literature. To the best of our knowledge,
this is the first case of MFS reported in connection with
hypohyperdontia. However, in the present MFS case, the
occurrence of concomitant hypohyperdontia was probably
a coincidental finding. In addition, the patient also exhib-
ited other dental and skeletal findings. Pediatric dentists,
with knowledge of the general and oral variations in
developing children, play an important role in identifying
such otherwise unnoticed conditions. Furthermore, a
multidisciplinary team is necessary to confirm the diagno-
sis and establish the full range of characteristics of the
syndrome, and to decide on the management strategies
encompassing the most suitable options, while minimiz-
ing these complications.
Conclusion
The establishment of meticulous oral hygiene, early
diagnosis, and the treatment of potential dental anoma-
lies, such as supernumerary teeth and hypodontia,
Authors Year Oral manifestations
Wilson21 1957 Bifid uvula
Lynas22 1958 Cleft palate
Sachdev et al.23 1986 Partial anodontia with
bilateral aniridia
Gray and Davis24 1996 Dolichocephaly and
malar hypoplasia
Westing et al.25 1998 Deep plate, maxillary and
mandibular retrognathism
De Coster et al.3 2002 High caries, hypoplastic stains,
radicular deformation, pulp
obliteration, gingivitis
Straub et al.26 2002 Periodontitis, bone loss, mobility
Bauss et al.27 2004 Temporomandibular dysfunction,
subluxation and anterior
displacement of disk
Bauss et al.28 2008 Pulpolitos and pulp obliteration
Utreja and Evans29 2009 Severe periodontitis
Khonsari30 2010 Supernumerary teeth, enamel defects,
abnormal dentin formation, crowding
Morales-chavez and
Rodriguez-Lopez312010 Crowding, agenesis of third molars
Present case 2012 Concomitant hypohyperdontia
Table 2. Review of oral manifestations seen
in patients with Marfan syndrome
256 ª 2012 Wiley Publishing Asia Pty Ltd
Hypohyperdontia in Marfan syndrome S.K. Mallineni et al.
might prevent lifelong disfiguring conditions in syndro-
mic patients. This might be the only report of a patient
with MFS who exhibited two supernumerary teeth in
the maxilla and hypodontia in both dentitions in the
mandible; that is, MFS with concomitant hypohyper-
dontia.
References
1 Gray JR, Bridges AB, Faed MJ et al.
Ascertainment and severity of Marfan
syndrome in a Scottish population.
J Med Genet 1994; 31: 51–4.2 Dietz HC, Cutting GR, Pyeritz RE
et al. Marfan syndrome caused by a
recurrent de novo missense mutation
in the fibrillin gene.Nature 1991; 352:
337–9.3 De Coster PJ, Martens LC, De Paepe
A. Oral manifestations of patients with
Marfan syndrome: a case-control
study. Oral Surg Oral Med Oral Pathol
Oral Radiol Endod 2002; 93: 564–72.4 Camilleri GE. Concomitant hypodon-
tia and hyperdontia: case report.
Br Dent J 1967; 123: 338–9.5 Nathanail P. Letter to the editor.
Br Dent J 1970; 129: 309.
6 Gibson AC. Concomitant hypo-hyper-
odontia. Br J Orthod 1979; 6: 101–5.7 Anthonappa RP, Lee CK, Yiu CKY,
King NM. Hypohyperdontia: litera-
ture review and report of seven cases.
Oral Surg Oral Med Oral Pathol Oral
Radiol Endod 2008; 106: 24–30.8 da Silva Dalben G, Richieri-Costa A,
de Assis Taveira LA. Tooth abnormal-
ities and soft tissue alterations in
patients with G/BBB syndrome. Oral
Dis 2008; 14: 747–53.9 Ranta R. Premature mineralization of
permanent canines associated with
aplasia of their primary predecessors:
report of four cases. J Dent Child
1983; 50: 274–7.10 Ranta R. The Dubowitz syndrome
development of teeth and jaws. Med
Sci Res 1987; 15: 851–2.11 Macpherson DW. Dental anomalies
in fucosidosis. Br Dent J 1991; 172:
408–10.12 Trotman CA, McNamara T. Four
maxillary incisors: a case report. Spec
Care Dentist 1994; 14: 112–5.13 Chow KM, O’Donnell D. Concomi-
tant occurrence of hypodontia and
supernumerary teeth in a patient with
Down syndrome. Spec Care Dentist
1997; 17: 54–7.14 Hattab FN, Yassin OM, Sasa IS. Oral
manifestations of Ellis–van Creveld
syndrome: report of two siblings with
unusual dental anomalies. J Clin
Pediatr Dent 1998; 22: 159–65.15 Acerbi AG, de Freitas C, de Magalh-
aes MH. Prevalence of numeric
anomalies in the permanent dentition
of patients with Down syndrome.
Spec Care Dentist 2001; 21: 75–8.16 Aminabadi NA, Ebrahimi A, Oskouei
SG. Chondroectodermal dysplasia
(Ellis-van Creveld syndrome): a case
report. J Oral Sci 2010; 52: 333–6.17 Marfan AB. Un cas de deformation
congenitale des quatre membres, plus
prononcee aux extremites, caracterisee
par l’allongement des os avec uncer-
tain degre d’amincissement. Bull Mem
Soc Med Hop Paris 1896; 13: 220–6.18 De Coster PJ, Martens LC, De Paepe
A. Orofacial manifestations of con-
genital fibrillin deficiency: pathogene-
sis and clinical diagnostics. Pediatr
Dent 2004; 26: 535–7.19 Pirinen S. Genetic craniofacial aberrations.
Acta Odontol Scand 1998; 56: 356–9.20 Pyeritz RE, McKusick VA. The Mar-
fanSyndrome: diagnosis and manage-
ment. N Engl J Med 1979; 300: 772–7.21 Wilson R. Marfan’s syndrome:
description of a family. Am J Med
1957; 23: 434–44.22 Lynas AM. Marfan’s syndrome in
Northern Ireland. Ann Hum Genet
1958; 22: 289–301.23 Sachdev MS, Sood NN, Kumar H,
Ghose S. Bilateral aniridia with Mar-
fan’s syndrome: a new association.
Jpn J Ophthalmol 1986; 30: 360–6.24 Gray JR, Davies SJ. Marfan syndrome.
J Med Genet 1996; 33: 403–8.25 Westling L, Mohlin B, Bresin A. Cra-
niofacial manifestations in the Marfan
syndrome: palatal dimensions and a
comparative cephalometric analysis.
J Craniofac Genet Dev Biol 1998; 18:
211–8.
26 Straub AM, Grahame R, Scully C,
Tonetti MS. Severe periodontitis in
Marfan’s syndrome: a case report.
J Periodontol 2002; 73: 823–6.27 Bauss O, Sadat-Khonsari R, Fenske C,
Engelke W, Schwestka-Polly R. Tem-
poromandibular joint dysfunction in
Marfan syndrome. Oral Surg Oral
Med Oral Pathol Oral Radiol Endod
2004; 97: 592–8.28 Bauss O, Neter D, Rahman A. Preva-
lence of pulp calcifications in patients
with Marfan syndrome. Oral Surg
Oral Med Oral Pathol Oral Radiol
Endod 2008; 106: 56–61.29 Utreja A, Evans CA. Marfan syn-
drome—an orthodontic perspective.
Angle Orthod 2009; 79: 394–400.30 Khonsari RH, Corre P, Boukerma-
Vernex Z et al. Extreme oral manifes-
tations in a Marfan-type syndrome.
Int J Oral Maxillofac Surg 2010; 39:
622–5.31 Morales-Chavez MC, Rodrıguez-
Lopez MV. Dental treatment of Mar-
fan syndrome with regard to a case.
Med Oral Patol Oral Cir Bucal 2010;
15: e859–62.32 King NM, Tongkoom S, Wong HM.
Morphological and numerical charac-
teristics of the southern Chinese den-
titions. Part III: Anomalies in the
primary dentition. Open Anthropol J
2010; 3: 25–36.33 King NM, Tsai JSJ, Wong HM. Mor-
phological and numerical characteris-
tics of the southern Chinese
dentitions. Part I: Anomalies in the
permanent dentition. Open Anthropol
J 2010; 3: 54–64.34 Vastardis H. The genetics of human tooth
agenesis: new discoveries for understand-
ing dental anomalies. Am J Orthod
Dentofac Orthop 2000; 117: 650–6.35 Ranta R. Numeric anomalies of teeth
in concomitant hypodontia and hy-
perdontia. J Craniofac Genet Dev Biol
1988; 8: 245–51.
ª 2012 Wiley Publishing Asia Pty Ltd 257
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