PICTORIAL ESSAY

Twenty classic hand radiographs that lead to diagnosis

Govind B. Chavhan & Elka Miller & Erika H. Mann &

Stephen F. Miller

Received: 16 September 2009 /Revised: 23 November 2009 /Accepted: 18 December 2009 /Published online: 4 February 2010# Springer-Verlag 2010

Abstract Most of the common skeletal dysplasias havesome manifestation in the hand. Many have characteristicfindings in the hand that lead to the diagnosis. Hand bonesare also affected in many systemic hematologic andmetabolic conditions. The diagnosis can be clinched on asingle hand radiograph if characteristic findings are present.This pictorial essay illustrates characteristic findings of 20common conditions including bone dysplasias and metabolicand hematologic abnormalities on a single hand radiograph.It also includes some common hand abnormalities withoutsystemic skeletal abnormalities.

Keywords Hand radiographs . Characteristic findings .

Educational . Skeletal dysplasia . Children

Introduction

Plain films of the hands are common radiographs reportedby a pediatric radiologist. Common indications includeevaluation of the bone age and trauma. Hand bones arefrequently affected in most of the common skeletaldysplasias as well as systemic hematologic and metabolicconditions, with some having characteristic findings in thehand that lead to the diagnosis. Hence, hand radiographsare always part of the skeletal survey performed fordysplasia. However, diagnosis can be clinched on a singlehand radiograph if characteristic findings are present.

The purpose of this pictorial review is to illustrate thecharacteristic findings of various conditions in the hand thatlead to the diagnosis. Radiologists interpreting the handradiograph can make the diagnosis or direct appropriateinvestigations for diagnosis if they are aware of thecommon conditions affecting the hand. This review alsoincludes some conditions that are limited to the hands.

Pyknodysostosis

Pyknodysostosis is a rare hereditary sclerosing skeletaldysplasia with autosomal-recessive inheritance. It is causedby mutation in the gene encoding cathepsin K, a lysosomalcysteine protease located exclusively in osteoclasts [1]; themutation results in reduced bone resorption. It is characterizedby short stature, frontal bossing, large anterior fontanelle withdelayed closure, delayed teeth eruption, ocular proptosis, anddysplastic nails. Alteration in insulin-like growth factor-I(IGF-I) is thought to be responsible for the growth impairmentseen in pyknodysostosis [1]. Growth hormone therapy hasbeen shown to increase IGF-I secretion and to improve thelinear growth in these children.

G. B. Chavhan (*) : E. H. Mann : S. F. MillerThe Department of Diagnostic Imaging,The Hospital for Sick Children,555 University Ave,Toronto M5G 1X8, Canadae-mail: drgovindchavhan@yahoo.com

G. B. Chavhan : E. H. Mann : S. F. MillerUniversity of Toronto,Toronto, Canada

E. MillerThe Department of Diagnostic Imaging,Children’s Hospital of Eastern Ontario,Ottawa, Canada

E. MillerUniversity of Ottawa,Ottawa, Canada

Pediatr Radiol (2010) 40:747–761DOI 10.1007/s00247-009-1520-2

Characteristic radiologic features include generalizedosteosclerosis, obtuse mandibular angles, distal osteolysisof the clavicles, wide cranial sutures, undertubulation ofmetaphyses resulting in the Erlenmeyer flask deformity andacroosteolysis (Fig. 1). The distal phalangeal tufts areeroded or fragmented in appearance. Hand radiographshowing dense sclerotic bones with acroosteolysis isdiagnostic of pyknodysostosis (Table 1).

Osteopetrosis

Osteopetrosis is a rare sclerosing skeletal dysplasia causedby failure of the osteoclasts to reabsorb primary spongiosa.Various gene mutations that participate in the functioning ofosteoclasts have been linked to osteopetrosis. Clinically, it isclassified as autosomal recessive, autosomal dominant andx-linked [2]. Autosomal-recessive and x-linked forms showsevere osteopetrosis, while the autosomal-dominant form isvariable in severity. Clinical features include macrocephaly,pancytopenia, anemia, sepsis from hypoplastic bone marrow,hepatosplenomegaly from extramedullary hematopoiesis,blindness and deafness from cranial nerve compression inthe skull base, and pathological fractures from dense butbrittle bones. Hematopoietic stem cell/marrow transplantationhas been shown to benefit some patients with severedisease [2].

Radiographic features (Fig. 2) are crucial in arrival at thediagnosis and include diffuse sclerosis of most of theskeleton, funnel-shaped metaphyses with alternating lucent

bands, bone-in-bone appearance, dense skull base, sandwichvertebrae, rugger-jersey spine and squaring of the anteriorends of ribs. Head CT demonstrates sclerosis of thecalvarium and facial bones, with narrowing of the neuralforamina. Hand radiographs demonstrate diffuse osteoscle-rosis without evidence of shortening or acroosteolysis.

Mucopolysaccharidosis

The mucopolysaccharidoses (MPS) are a group ofautosomal-recessive metabolic disorders caused by deficiencyof lysosomal enzymes that break down mucopolysacchar-ides (glycosaminoglycans). Excess glycosaminoglycan isdeposited in various tissues, resulting in progressivedamage of various organs that leads to physical and mentaldisabilities. Although rare, at least seven types of MPS havebeen described. These includeMPS I (Hurler/MPS IH, Scheie/MPS IS, Hurler-Scheie/MPS IH-S), MPS II (Hunter), MPS III

Fig. 1 Pyknodysostosis. a Hand radiograph shows dense scleroticbones with acroosteolysis (arrows). b Frontal radiograph of both femursshows widening of distal femoral metaphyses—the Erlenmeyer flaskdeformity. c Lateral skull radiograph shows obtuse mandibular angles

(arrows) and widening of coronal sutures (arrowheads). Obtusemandibular angles and acroosteolysis are seen in pyknodysostosis anddifferentiate it from osteopetrosis

Table 1 Pyknodysostosis versus osteopetrosis

Pyknodysostosis Osteopetrosis

1. Acroosteolysis is seen Acroosteolysis is not seen

2. Angle of the mandible isobtuse

Angle of the mandible isnot obtuse

3. Marrow failure, cranialnerve compression, andhepatosplenomegaly arenot seen

Marrow failure, cranialnerve compression, andhepatosplenomegaly arecharacteristic features

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(Sanfilippo), MPS IV (Morquio),MPSVI (Maroteaux-Lamy),MPS VII (Sly) and MPS IX (hyaluronidase deficiency). Theclinical spectrum is variable, and abnormalities typicallymanifest by the end of 2 years of age. Major clinicalfeatures include short stature (except in Scheie), cornealclouding, hydrocephalus, coarse facial features, macro-glossia, hepatosplenomegaly, cardiovascular diseases(including hypertension), noisy breathing, recurrent upperrespiratory tract infection, and skeletal deformities such askyphosis [3]. Developmental delay is seen except inMorquio and Scheie types. The diagnosis of an MPSdisorder is confirmed by excessive urinary excretion ofglycosaminoglycans.

Radiological features include: J-shaped sella, large skull,thick calvarium, hypoplasia of scapulae, short and thickclavicles, thick ribs with narrow neck (paddle-shaped ribs),beaking and bullet-shaped vertebrae with thoracolumbarkyphosis, hypoplasia of dens with atlanto-axial subluxation(especially in Morquio), irregular metaphyses, flared iliacwings with narrow steep acetabula, coxa valga, infiltrationof meninges, hydrocephalus, prominent Virchow-Robinspaces and tracheal narrowing (Fig. 3). Characteristicfeatures in the hand that lead to the diagnosis include:short distal phalanges, wide proximal phalanges, irregularsmall carpals, short metacarpals with proximal tapering,and slanting of the distal articular surfaces of radius andulna toward each other (pseudo-Madelung deformity).

Achondroplasia

Achondroplasia is the most common skeletal dysplasia andthe most common cause of short-limbed dwarfism in humans[4]. It is an autosomal-dominant disorder caused by mutation

in the gene for fibroblast growth factor receptor 3 (FGRF3),resulting in disturbance of endochondral bone formation,especially manifest at the growth plate. Clinical featuresinclude rhizomelic dwarfism with a normal trunk,macrocephaly with frontal bossing, midfacial hypoplasia,otitis media, bowing of legs, cervicomedullary compression,lumbosacral nerve compression and upper airwayobstruction [5].

Radiological features (Fig. 4) include short, thick longbones with metaphyseal flaring and cupping; short,rectangular iliac bones with narrow sacroiliac notchesand horizontal acetabular roofs; narrowing of lumbarinterpediculate distance frequently resulting in lumbarspinal stenosis; bullet-shaped vertebrae with thoracolumbarkyphosis, constricted skull base with narrow foramenmagnum, short ribs with flared anterior ends, coxa varaand genu varum (Fig. 4). Characteristic features in the handinclude the trident hand, with short, broad, splayed andcone-shaped phalanges and shortened metacarpals.

Chondrodysplasia punctata, brachytelephalangicsubtype (CDP-BT)

Chondrodysplasia punctata is a heterogeneous group ofrare congenital disorders caused by peroxisomal dysfunc-tion. This phenotype is characterized by erratic cartilagecalcification within apophyses and epiphyses, carpal andtarsal bones, vertebrae and cartilages of the trachea andbronchi. Various types of chondrodysplasia punctatainclude autosomal-dominant (non-rhizomelic, non-lethal,Conradi-Hunermann syndrome), autosomal-recessive(rhizomelic, lethal type) and rare x-linked dominant andrecessive forms. Clinical features of the severe phenotypes

Fig. 2 Osteopetrosis. a Hand radiograph shows dense sclerotic bones.b Pelvic radiograph shows bone-within-bone appearance (arrows) andan internally fixed fracture of the right femoral neck. c Lateral skull

radiograph shows dense skull base, increased craniofacial ratiosuggestive of macrocephaly, and normal mandibular angles

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include ichthyotic and psoriasiform skin lesions, cataracts,craniofacial dysmorphism including nasal hypoplasia, jointcontractures, cardiac malformation and mental retardation.However, patients with the brachytelephalangic subtype(x-linked recessive) present with only respiratory insufficiencycaused by narrow nasal passages and tracheal cartilage

calcification. They also have characteristic shortening of thedistal phalanges (brachytelephalangy).

Radiological features in the CDP spectrum includestippled epiphyses, punctate appearance of carpal and tarsalbones, stippled patellae and vertebral pedicles, stippling inthe trachea, larynx, and bronchi, short long bones,

Fig. 3 Mucopolysaccharidosis (MPS-IH). a Hand radiograph showscharacteristic findings of MPS-IH, with short metacarpals demonstratingproximal tapering (arrows), slanting of radial and ulnar metaphysestoward each other, and short distal and wide proximal phalanges.

b Lateral spine radiograph shows hypoplastic L2 vertebra withanteroinferior beaking (arrow) and gibbus deformity. c Pelvis radio-graph shows flared iliac wings with steep and shallow acetabular roofs(arrows). There is also mild coxa valga deformity bilaterally

Fig. 4 Achondroplasia. a Hand radiograph shows approximation ofsecond and third digits and also the fourth and fifth digits forming thetrident hand appearance. Tubular bones are short and show conedphalanges. There is also flaring of radial and ulnar metaphyses.b Pelvis radiograph shows characteristic progressive narrowing of

interpediculate distance craniocaudally (lines). Iliac wings are squaredwith horizontal acetabular roofs. Sciatic notches are narrowedbilaterally (arrows). Femurs are short and broad, with widening andcupping of metaphyses. c Lateral spine radiograph shows bullet-shaped vertebrae (arrowheads) with kyphosis in thoracolumbar region

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kyphoscoliosis, coronal clefts in vertebrae on the lateral view,and atlanto-axial instability (Fig. 5). Findings in the handmight include brachytelephalangy and variable shortening ofother phalanges and metacarpals. Of note, characteristicpunctate calcifications disappear within the first year of life;hence early diagnosis is important [6]. Hand radiographs inpatients with CDP-BT demonstrate punctate calcification ofthe distal phalangeal epiphyses, with an inverted-triangleappearance of the shortened distal phalanges. These patientsalso demonstrate distinctive calcification of the triradiatecartilages of the pelvis as well as the greater trochanters. Thefindings in CDP-BT are quite similar to those seen inWarfarin embryopathy. As the diagnosis of a specificsubtype of CDP often hinges on radiographic findings, acomplete skeletal survey is indicated. Abnormal cartilagi-nous stippling is associated with number of other disordersincluding inborn errors of metabolism, embryopathy andchromosomal abnormalities [7].

Ollier syndrome (multiple enchondromas)

Ollier syndrome refers to the presence of multipleenchondromas (enchondromatosis). This rare, sporadic,non-hereditary condition represents a benign neoplasmwithin the intramedullary bone that consists primarily oflobules of hyaline cartilage. These lesions are thought toarise from physeal rests of cartilage that become trappedin the metaphysis of growing bones [8]. Children presentwith fractures, palpable masses and limb deformity. Mostpatients have bilateral involvement but the disorder is

often asymmetric. Tubular long bones are most commonlyinvolved, but the bones of hands, feet and hips can also beaffected. The involved tubular bones are frequently short,expanded and irregularly deformed.

Radiographs demonstrate multiple well-demarcatedlucent central lesions in the metaphysis or diaphysis ofthe involved tubular bones (Fig. 6). Rarely, extension tothe epiphysis can be seen. Short tubular long bones of thehands and feet are most frequently involved. Calcifiedmatrix with a typical “arcs and rings” appearance confirmsthe diagnosis of a chondroid lesion. With increasing age,the cartilage might calcify in the typical snowflake pattern.Cortical expansion or thinning might be present and quitedramatic, but cortical destruction is rare unless a fracture ispresent.

Complications of enchondromatosis include pathologicalfracture andmalignant transformation (5–30%) into sarcomas,mainly chondrosarcomas. Development of non-skeletalmalignant lesions including gliomas and ovarian carcinomahas been reported [9–11]. Enchondromatosis is sometimesassociated with cutaneous hemangiomas and is then referredto as Maffucci syndrome, also with a risk of malignanttransformation.

McCune-Albright syndrome (polyostotic fibrousdysplasia)

McCune-Albright syndrome (MAS) is defined as a triad offibrous dysplasia, café-au-lait skin spots, and precociouspuberty. It is a rare disease with estimated prevalence of 1/

Fig. 5 Chondrodysplasia punctata, brachytelephalangic subtype.a Hand radiograph shows short triangular-shaped distal phalangessuggestive of brachytelephalangy (arrows). The fifth middle phalanxis small with clinodactyly. The metacarpals are relatively small.b Lateral radiograph of the chest shows diffuse punctuate foci of

calcification within the cartilaginous rings of the anterior wall of thetrachea and in the posterior elements of vertebrae (arrows). c Pelvicradiograph shows calcifications in the triradiate cartilage, within thegreater trochanteric apophysis and in the sacrum (arrows). This ischondrodysplasia punctata with brachytelephalangy

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100,000 to 1/1,000,000. Other hyperfunctioning endocri-nopathies such as hyperthyroidism, growth hormone excess,Cushing syndrome, and renal phosphate wasting can be seen[12]. The disease results from somatic mutations of theG protein gene, which induces constitutive activation ofadenylate cyclase, resulting in increased hormone production.The extent of the disease is determined by the proliferation,migration and survival of the mutated cell during embryonicdevelopment [13, 14].

Plain radiographs are often sufficient to make thediagnosis. Radiological features in the hands include focalexpansile intramedullary lesions with endosteal scalloping.Thematrix of the intramedullary lesion demonstrates a groundglass appearance (Fig. 7). These findings of polyostoticfibrous dysplasia are sometimes associated with enlargementof the fingers involved causing focal gigantism. Patients withMcCune-Albright syndrome often demonstrate advancedskeletal maturation even in the absence of demonstrableintraosseous lesions in the hand. Differential diagnosesinclude focal gigantism from macrodystrophia lipomatosa,neurofibromatosis, and melorrheostosis. Malignant transfor-mation of FD lesions probably occurs in less than 1% ofpatients with MAS.

Macrodystrophia lipomatosa

Macrodystrophia lipomatosa (ML) is a rare non-hereditarydevelopmental form of localized gigantism. It is characterized

by overgrowth of mesenchymal elements with dispropor-tionate increase in fibroadipose tissue involving fingersand toes. The distribution of this congenital abnormalityinvolves the median nerves in the upper extremity andplantar nerves in the lower extremity [15].

This idiopathic localized gigantism is recognized atbirth. The rate of growth varies among individuals andceases by puberty. It most commonly involves a singledigit, although enlargement of multiple digits has beenreported. Radiologically, it is characterized by involvementof both soft tissues and bones (Fig. 8). The first to third raysare commonly involved. The soft-tissue overgrowth is moreprominent at the distal and volar aspects of the finger. Thephalanx is broad and long and in late childhood secondarydegenerative joint changes can be present. Clinodactyly isalways present, syndactyly and polydactyly can also beseen. MRI appearance of fatty tissue with proportionalenlargement of other mesenchymal tissue is diagnostic ofML [16].

The radiographic differential diagnoses include neurofi-bromatosis (NF), Klippel-Trénaunay-Weber syndrome andproteus syndrome. In neurofibromatosis, the involvement ofthe digits tends to be multiple and bilateral with the distal

Fig. 7 McCune-Albright syndrome. Precocious puberty and café-au-laitspots in a 7-year-old girl. Hand radiograph shows expansile lesiondemonstrating ground-glass matrix and endosteal scalloping involvingthe metacarpals and phalanges of the first and second digits of the lefthand (arrows). The bones of the third through fifth ray are affected to alesser degree. These findings are suggestive of polyostotic fibrousdysplasia

Fig. 6 Ollier disease. Hand radiograph shows multiple lytic expansilelesions in the tubular bones of the hand and in the distal ulna (arrow)suggestive of enchondromas. There is resultant deformity of theinvolved bones. The presence of hemangiomas with multipleenchondromas is called Maffucci syndrome

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phalanx not severely affected; premature fusion of growthplates can be seen in NF but is rare in ML since the growthceases with puberty. With the advantages of tissuecharacterization in MR images, the differential diagnosesare limited to lesions containing fat such as fibrolipomatoushamartoma of the median nerve, a rare condition that can bepresent with macrodactyly but the fat signal is usually presentwithin the nerve sheath only [17]. Some would combine MLand fibrolipomatous hamartoma under the term nerveterritory-oriented macrodactyly. Other pathologies with over-growth can be differentiated because of obvious cutaneousvascular abnormalities such as vascular malformations orKlippel-Trénaunay-Weber syndrome. Treatment often requiressurgical resection to decrease deformity; however, thispreferentially should be performed only after puberty [18].

Proteus syndrome

Proteus syndrome is a rare sporadic disorder with variablemanifestations. The most commonmanifestation is overgrowthand hyperplasia of multiple tissues, including epidermis anddermal connective tissue, adipose tissue, vascular connectivetissue and bone. The disease is not usually apparent at birth butdevelops rapidly in childhood. Common presentations includemacrodactyly, vertebral abnormalities, asymmetric limb over-growth and length discrepancy, hyperostosis, abnormal andasymmetric fat distribution, asymmetric muscle develop-ment, connective-tissue nevi, and vascular malformations.This hamartomatous disorder is thought to arise from

somatic mosaicism of a dominant gene that has not beenidentified [19].

Skeletal findings are progressive and include abnormalitiessuch as macrodactyly, scoliosis, asymmetric overgrowth, andlimb length discrepancy. In the hand, asymmetric overgrowthand macrodactyly are the most common features (Fig. 9).Clinodactyly, syndactyly or polydactyly in an asymmetricand irregular pattern have been described. Asymmetricinvolvement of the hands, including the ossification centers,might cause abnormal or disharmonic bone age [20].Exostosis-like protuberances of the short and long bones inconjunction with ossification of the periarticular soft tissueson the volar aspect of the joint can contribute to limitation ofmovement [21].

The cerebroid thickening of palms and soles and the linealskin lesions are characteristic of proteus syndrome and help todifferentiate this entity frommacrodystrophia lipomatosa. Thedifferential diagnosis is broad because macrodactyly, limbhypertrophy and asymmetry are all features of other entitiessuch as hemangiomatosis, lymphangiomatosis, arterio-venousfistulas, neurofibromatosis, Klippel-Trénaunay-Weber syn-drome, Ollier disease, and Maffucci syndrome.

Marfan syndrome

Marfan syndrome is an uncommon inherited multisystemicconnective-tissue disease that is caused by a mutation of the

Fig. 9 Proteus syndrome. Hand radiograph shows asymmetric randomsoft-tissue and bony changes. There is loss of normal configuration,irregularity, overgrowth and deformed phalanges and metacarpals. Thereis overgrowth of the fourth and fifth fingers and shortening of the secondand third fingers. There is associated soft-tissue hypertrophy in theovergrown fingers

Fig. 8 Macrodystrophia lipomatosa. Hand radiograph showsenlargement of first and second digits involving bones and softtissues. There is lateral curving of the second digit. The findings arecharacteristic of macrodystrophia lipomatosa

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fibrillin-1 gene. This mutation affects the suspensoryligament of lens, elastin in the aorta and other connectivetissues. A wide range of clinical manifestations charac-terize the syndrome. Cardiac diseases such as dissectinganeurysm of the ascending aorta, and mitral or aorticinsufficiency are substantial contributors to mortality.Musculoskeletal manifestations include scoliosis, pectusexcavatum and carinatum, and acetabular protrusion(Fig. 10). Other manifestations include dural ectasiacausing posterior vertebral body scalloping, and in somepatients variable pulmonary and ocular involvement.

The hands demonstrate arachnodactyly (long spider-likefingers and/or toes, disproportionately long in relation tothe hands and feet) (Fig. 10). A metacarpal index greaterthan 8.4 is suggestive of arachnodactyly and if present,evaluation for other signs of Marfan syndrome isindicated. This index is calculated by dividing the totallength (in millimeters) of the second, third, fourth, andfifth metacarpals by the total width of the metacarpals attheir exact midpoints [22]. The metacarpal index has lowsensitivity and specificity and thus needs to be correlatedwith other clinical features.

Congenital contractural arachnodactyly (CCA), or Bealssyndrome, is an autosomal-dominant connective-tissuedisorder that shares phenotypical features with Marfansyndrome. The two syndromes are clinically related butCCA is caused by a mutation in the fibrillin-2 gene mappedto 5q23. CCA patients share skeletal features with Marfansyndrome (tall and slender, arachnodactyly, scoliosis), butlack the ocular and cardiovascular complications associatedwith Marfan syndrome [23]. Loeys-Dietz syndrome, caused

by mutations in either the TGFBR-1 or TGFBR-2 genes, isalso characterized by arachnodactyly. However, these patientsdemonstrate numerous and dramatic arterial aneurysms andcervical instability [24].

Rickets

Rickets is caused by decreased mineralization at the growthplate resulting in growth retardation and delayed skeletalmaturation. Defective mineralization of trabecular bone iscalled osteomalacia. Rickets can only be seen in childrenbefore closure of growth plates, while osteomalacia canoccur at any age (associated with rickets in children).Defective mineralization of the osteoid can be caused byvitamin D deficiency from dietary intake or malabsorption,abnormal metabolism of vitamin D from liver or kidneydisease and abnormal metabolism or excretion of inorganicphosphates such as that seen in x-linked hypophosphatemicrickets and Fanconi anemia [25]. Clinical features includecraniotabes, frontal bossing, delayed tooth eruption, rachiticrosary, scoliosis, bowing of extremities, ligament laxity, andhypotonia.

Radiological features include widening, cupping andfraying of metaphyses as a result of an increased number ofdisorganized cells in the hypertrophic zone, craniotabes,bowing of long bones, genu valgum, scoliosis, triradiatepelvis, rachitic rosary and periosteal reaction. Knees, wristsand ankles are affected predominantly (Fig. 11). Handradiographs are usually diagnostic of rickets and showwidening, cupping, and fraying of distal metaphyses of

Fig. 10 Marfan syndrome. a Hand radiograph shows long slenderfingers suggestive of arachnodactyly. Metacarpal index was greaterthan 10. b Lateral chest radiograph shows kyphoscoliosis of the spine

and pectus excavatum (arrows). c Coronal balanced SSFP MR imageshows dilatation of the aortic root (arrows)

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radius and ulna, coarse trabeculae, and indistinct corticalmargins. Radiographs are also useful to detect treatmentresponse in dietary rickets and demonstrate increaseddensity in the zone of provisional calcification as early as2 to 3 weeks following initiation of treatment (Fig. 11).

Pseudohypoparathyroidism/pseudopseudohypoparathyroidism

Hypoparathyroidism is a reduced level of parathyroidhormone from any cause with resultant hypocalcemia andhigh phosphorus. In chronic hypoparathyroidism diffuseincreased bone density and soft-tissue and basal ganglioncalcifications can be seen. In pseudohypoparathyroidism,the parathyroid hormone level is normal or high; however,there is end organ resistance to the hormone. Albrighthereditary osteodystrophy (AHO) is a rare constellation ofdevelopmental defects with autosomal-dominant inheri-tance characterized by short stature, obesity, round face,brachydactyly, subcutaneous ossification and mild tomoderate developmental delay (Fig. 12). AHO is causedby germline mutations of the GNAS1 gene that encodes forstimulatory G protein responsible for stimulating adenylylcyclase [26]. High serum levels of parathormone andphosphate, and a low level of calcium are seen. End organresistance to other hormones such as TSH, gonadotropin,and glucagons might be seen [26]. When AHO is not

associated with end organ resistance to hormones it iscalled pseudopseudohypoparathyroidism. Serum parathor-mone, calcium and phosphate levels are normal inpseudopseudohypoparathyroidism.

Brachydactyly is the most reliable sign for the diagnosis ofAHO, with shortening of the distal phalanx of the thumb themost common abnormality (75%) [26]. A variable shorteningof the metacarpals is seen, with the fourth (65%) and fifth(43%) being most commonly affected. Shortening of thesecond through fifth distal phalanges is common andvariable. Asymmetry is seen in up to 42% of cases [27].Skeletal abnormalities of AHO might not be apparent until5 years of age, although they present in infancy occasionally[27]. Differential possibilities include acroosteolysis.

Renal osteodystrophy

Renal osteodystrophy (ROD) is a common multifactorialdisorder of bone remodeling seen in chronic renal disease. Itconsists of a heterogeneous group of disorders from highturnover bone to low turnover bone states [28]. High turnoverbone disease is characterized by increased osteoblastic andosteoclastic activity with peritrabecular fibrosis. It representsthe manifestation of secondary hyperparathyroidism [29] anddevelops as a result of hypocalcemia, hyperphosphatemia,and impaired synthesis of renal vitamin D. Radiologicfindings include subperiosteal and subchondral bone resorp-

Fig. 11 Rickets. a Hand radiograph shows widening, cupping, andfraying of distal metaphyses of the ulna and radius. There is reductionin bone density with prominence of trabeculae and thinning of cortex.Findings are typical for rickets. b Lateral radiograph of the chest

shows widening of anterior ends of ribs (arrows) in keeping withrachitic rosary. c Follow-up radiograph 3 weeks after initiation ofvitamin D therapy shows dense metaphyseal band of provisional zoneof calcification (arrows), suggestive of healing rickets

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tion, acroosteolysis, periosteal reaction and brown tumors.Cardiovascular and soft-tissue calcification can also be seen.Low turnover bone disease is characterized by decrease inosteoblastic and osteoclastic activity with increase in osteoidformation, and includes osteomalcia/rickets and osteopenia.A combination of low and high turnover bone findings isusually seen. Efficient treatment limits the prevalence ofsecondary HPT and osteomalacia/rickets and the manifesta-tions are less frequently seen now.

A characteristic finding on the hand radiograph includescortical resorption along the radial aspect of the middlephalanges of the second and third digits. Additionalfindings include prominence of trabeculae, irregularity ofthe metaphyseal margins of the radius and ulna, andperiosteal reaction (Fig. 13).

Thalassemia

Thalassemia is a group of hereditary disorders caused bygenetic deficiency in the synthesis of beta-globin chains ofhemoglobin. Globin chains are reduced in quantity but arestructurally normal in thalassemia. Alpha and beta thalasse-mia are caused by mutations in the alpha-globin genes andbeta-globin genes, respectively. In the heterozygous state(beta thalassemia trait/thalassemia minor), mild-to-moderatemicrocytic anemia is seen. The homozygous state causesthalassemia major—a severe transfusion-dependent anemia.Production of beta-globin is severely impaired, resulting in animbalance between alpha and beta chains. Excess unpairedalpha-chains aggregate to form precipitates that causehemolysis. Erythroid hyperplasia causes medullary expansionwithin the bones. Extramedullary hematopoiesis can be seenin the liver, spleen, and in the paraspinal regions. Clinically,thalassemia minor patients are usually asymptomatic carriers.

Thalassemia major usually presents with anemia whenfetal hemoglobin is reduced at about 6 months of age.Cardiomegaly is seen because of a high flow state fromthe anemia.

Radiographic features in the skeleton include markedosteopenia, medullary expansion, cortical thinning, frontalbossing, hair-on-end appearance of the frontal and parietalbones, prominence of nutrient foramina, early physeal fusion

Fig. 13 Renal osteodystrophy. Hand radiograph shows prominence oftrabeculae and mild osteosclerosis. There is subperiosteal resorptionand resorption along the radial and ulnar metaphyses (arrows).Combination of bone resorption, prominence of trabeculae, andosteosclerosis is usually suggestive of renal osteodystrophy

Fig. 12 Pseudopseudohypopara-thyroidism (PPHPT). a Handradiograph shows shorteningof the right third and fourthmetacarpals in a case of PPHPT.b Axial CT image shows facialsoft-tissue calcification on theright. This child had shortstature, obesity, round face,and normal levels of parathor-mone, calcium and phosphorus,characteristic of PPHPT. Inpseudohypoparathyroidism,there is end organ resistanceto parathormone, with increasedlevels of parathormone andphosphorus and reducedlevels of calcium

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giving rise to humerus varus, and increased frequency offractures [30]. These skeletal changes are seen lessfrequently now because of effective treatment. Changesrelated to chelation therapy for iron overload caused bymultiple transfusions can also be seen radiologically.These changes are called deferoxamine-induced bonedysplasia and include metaphyseal sclerosis and circum-ferential osseous defects, widening of growth plates,sharp zone of calcification, platyspondyly and sclerosisof costochondral junctions [31].

The hand radiograph in thalassemia shows expanded,undertubulated, osteopenic metacarpals, phalanges withlace-like trabeculae and thin cortex (Fig. 14).

Sickle cell disease

Sickle cell anemia is an autosomal-recessive hemoglobin-opathy caused by formation of a defective hemoglobincalled hemoglobin S (Hb S). This structural abnormality ofhemoglobin is caused by a single amino acid substitution:valine for glutamic acid at position six in the beta globinchain [32]. Structural defects of both beta globin chainsresult in sickle cell anemia, while involvement of one betaglobin chain results in sickle cell trait without anemia.Deoxygenation of Hb S-containing red blood cell (RBC)leads to the aggregation of abnormal hemoglobin moleculesinto long chains, distorting the RBC into a rigid sickle

shape. This abnormal irreversible shape of the RBC resultsin obstruction of microcirculation, ischemia, and infarction,as well as anemia from reduced lifespan of RBCs. Clinicaland radiologic features seen are the result of thrombosisand infarction of bones, marrow hyperplasia, infection(osteomyelitis and septic arthritis), and extramedullaryhematopoiesis.

Bone infarcts in the diaphyses of small tubular bonesin the hands and feet occurring in infants and youngchildren (from 6 months to 3 years) are called sickle celldactylitis or hand-foot syndrome with susceptibilitycaused by the presence of red marrow in these regions[32]. Hand radiographs show soft-tissue swelling, patchyareas of lucency, and periosteal reaction in the acutestage. Osteomyelitis can present with similar features,although destruction can be more intense and is usuallylocalized to a single bone. Chronic changes in the handare usually a result of aseptic necrosis and includecortical thickening, patchy sclerosis, and growth distur-bances such as phalangeal and metacarpal shortening(due to physeal infarction), metaphyseal cupping andfusion of intercarpal joints (Fig. 15).

Juvenile idiopathic arthritis

Juvenile idiopathic arthritis is an idiopathic disorder charac-terized by chronic joint inflammation occurring in children

Fig. 14 Thalassemia. Hand radiograph shows expansion, ground-glass appearance, lace-like thin trabeculae and thin cortex involvingpredominantly metacarpals, in keeping with medullary expansion seenin thalassemia

Fig. 15 Sickle cell dactylitis. Hand radiograph shows corticalthickening, patchy sclerosis and metaphyseal cupping involving theproximal phalanx of the third digit. Findings are in keeping with priorinfarction

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before age of 16 years, of at least 3 months duration, whenother causes are excluded. It is thought to be immunological inorigin. Synovial inflammation is characterized by lymphocyticinfiltration. JIA can be monoarticular, oligoarticular (fouror fewer joints involved), polyarticular (five or morejoints involved) or systemic (polyarticular, symmetricjoint involvement with systemic symptoms) at onset.Systemic manifestations include fever, rash, leucocytosis,lymphadenopathy, hepatosplenomegaly, pleuritis, anduveitis. Inflamed, thickened synovium is the mainpathologic process. This inflammation leads to erosionof articular cartilage and subchondral bone.

Radiological features include joint swelling, effusion,periarticular osteopenia, accelerated bone maturation andenlarged epiphyses from inflammatory hyperemia, peri-ostitis, reduction in joint space from cartilage destruction,articular margin erosions, joint subluxation, dislocations,ankylosis and deformity, and growth disturbances [33].Hand radiograph might show some or all of the abovechanges (Fig. 16). Wrist joints are commonly affected,with erosions and periarticular swelling in the acutephase and reduction in intercarpal spaces, marked carpaldestruction and radial deviation in the chronic phase.Small joints of the hand are also commonly and similarly

affected. Boutonniere (flexion at PIP and hyperextensionat DIP) and swan neck (vice versa) are specificdeformities seen in JIA involvement of the hand.

Frostbite

Frostbite is the injury caused by exposure to extremecold. It more commonly occurs in distal tissues that arewidely exposed, such as hands, feet and the head region[34]. It is more common in soldiers, homeless people,alcohol intoxication, and psychiatric illness [35]. Extremecold exposure causes ice crystal formation, cellulardehydration, protein denaturation, and hypoxia fromvessel constriction. Bony changes are secondary tovascular damage. Depth of the damage can vary fromepidermal tissues alone to involvement of dermis,muscles, bones and tendons. Hand injury can lead toshortening of distal phalanges and some adjacent middlephalanges. Destruction, premature physeal fusion andfragmentation of epiphyses can cause abnormal align-ment and joint deformities [36, 37]. Finger deformity and

Fig. 16 Juvenile inflammatory arthritis. Hand radiograph showsreduced intercarpal joint spaces and small irregular carpal bones.There is marked osteopenia. The short tubular bones are thin andslender. There is a boutonniere deformity (flexion at PIP and extensionat DIP) involving third to fifth digits (arrows) and periarticularcalcification in the third digit (arrowhead)

Fig. 17 Frostbite. Hand radiograph shows joint space reduction,irregular articular surfaces and deformity involving the distalinterphalangeal (DIP) joints of the second through fifth digits. Thereis sparing of the thumb. Findings are in keeping with history offrostbite. Sparing of the thumb is a result of characteristic protectivefist formation with thumb inside during the cold exposure

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arthritis can develop many years after the injury [37].Characteristic fist formation with thumb inside can lead tosparing of the thumb (Fig. 17) and serves as a clue to theetiology.

Lunotriquetral coalition

Fibrous, cartilaginous or bony fusion between individualcarpal bones is called carpal coalition. Lunotriquetral coalitionis the most common, followed by capito-hamate [38, 39].Incidence is approximately 0.11% [39] but it might be nearly100 times higher in African Americans [39]. It usually occursas an isolated anomaly. However, it is sometimes associatedwith syndromes and shows a familial pattern of inheritance.The syndromes described in association with carpal coalitioninclude: arthrogryposis, Ellis-van Creveld syndrome, Holt-Oram syndrome and Turner syndrome.Minnar’s classificationof lunotriquetral coalition includes: type I—proximal fibrousor cartilaginous coalition; type II—incomplete osseous fusionwith distal notch (Fig. 18); type III—complete osseousfusion; type IV—complete fusion with other carpal anomalies[39]. Lunotriquetral coalition is usually incidental andasymptomatic, but a few fibrous coalitions are painful.

Amniotic band syndrome

Entrapment of fetal parts in fibrous amniotic bands withresultant amputations and defects without any anatomic

Fig. 18 Lunotriquetral coalition. Hand radiograph shows fusion ofleft lunate and triquetrum bones. There is a small notch on the distalaspect of the fusion, indicating Minnar type II lunotriquetral coalition(arrow). The child was asymptomatic and coalition was incidentallydetected during bone age assessment

Fig. 19 Amniotic band syndrome. Hand radiograph shows amputationof multiple digits, sparing the left first and fifth digits. The amputation isvariable in extent for different digits. There is soft-tissue syndactylyinvolving the left third and fourth digits (arrow). Multiple amputationswithout any pattern and the distal fusion (syndactyly) are typical ofamniotic band syndrome

Fig. 20 Turner syndrome. Hand radiograph shows shortening of thefourth metacarpal with resultant short fourth ray. The finding in thisgirl with webbed neck, short stature and obesity is suggestive ofTurner syndrome. Other differential considerations for the finding of ashort fourth metacarpal include pseudohypoparathyroidism, pseudop-seudohypoparathyroidism, Rett syndrome, and homocystinuria

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pattern is called amniotic band syndrome. Rupture of theamnion without rupture of the chorion results in amnioticband formation [40]. Its incidence is approximately 1 in10,000 live births [40]. Amniotic rupture early in thepregnancy (<9 weeks) can cause multisystem anomalieswith brain and calvarial defects such as cephalocele andanencephaly. Fifty percent of these pregnancies end inabortion or stillbirth. Rupture later in the pregnancy cancause multiple defects with varying degree of severity.These defects include constriction rings around digits, armsand legs; lymphedema distal to constriction; asymmetry inface; cleft lip/palate; multiple joint contractures; clubfeet;pterygium; and pseudosyndactyly. In the hands, asymmetricamputations without any anatomic pattern are typically seen(Fig. 19). If syndactyly is seen, fingers are fused distally.Constricting bands can be seen proximally, with distalsoft-tissue swelling secondary to lymphedema. In completeamputation of fingers caused by an amniotic band there areno nails. However, in constriction by amniotic band withoutamputation or in a digital reduction abnormality fingersmight be stunted with dystrophic nails.

Turner syndrome

Turner syndrome is the most common sex-chromosomeabnormality in girls, affecting approximately 1 in 1,500–2,500 live-born girls [41]. It is caused by complete or partialX monosomy in some or all cells, with karyotype of 45XO[42]. Clinical features include short stature, webbed neck,high palate, nail dysplasia, lymphedema, coarctation of aortaand infertility from streak gonads. Hand radiographs showshort fourth metacarpals, bulbous distal phalangeal tufts anda more acute carpal angle (Fig. 20). Normally a tangentialline joining the distal ends of fourth and fifth metacarpalsshould not intercept the distal end of the third metacarpal. Ifit does, it is suggestive of a short fourth metacarpal. Shortfourth metacarpals can also be seen in pseudohypoparathyr-oidism, pseudopseudohypoparathyroidism, Rett syndrome,sickle cell disease and homocystinuria.

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