Homocystinuria, Marfan syndrome, congenital arachnodactyly with contractures.
Fig. 5.101 Phalangeal osteosclerosis (differental diagnosis includes enostosis and melorrheostosis).Fig. 5.102 Enchondroma in the proximal phalanx of the fourth toe (arrow).Fig. 5.103 Enchondroma of the proximal phalanx of the toe with a pathologic fracture.
Table 5.61 Hands and feet: alterations in distal phalanges
Diagnosis
Findings
Comments
Clubbing
Bulbous thickening of the ends of the fingers. Confined to the soft tissues and spares the bones.
Thumb has an extra phalanx. DD: Blackfan-Diamond syndrome, Holt-Oram syndrome, trisomy
13, Poland syndrome, VATER, Werner mesomelic dysplasia, Juberg-Hayward syndrome, thalidomide and phenytoin embryopathy, and sporadic (rarely). Associated with duplication or absence of the contralateral thumb.
Widened, short thumbs. Thumbs and great toes may also be duplicated.
Craniosynostosis, midface hypoplasia, and syndactyly of the hands and feet. Crouzon and Pfeiffer syndromes are allelic disorders with overlapping features.
Rubinstein-Taybi syndrome
Widened, short thumbs. Thumbs and great toes may also be duplicated.
Characterized by mental retardation, broad thumbs and toes, and facial abnormalities.
Other syndromes
Abnormal shape (usually short or broad) thumbs and great toes.
Fig. 5.105 Apert syndrome with syndactyly, fusion of metacarpals, and hypoplasia of the thumb.
Table 5.63 Hands and feet: digit V
Diagnosis
Findings
Comments
Kirner (dystelephalangy)
Radial bowing distal phalanx of the fifth finger. Usually bilateral.
Differentiate from camptodactyly (flexure contraction) and type A3 brachydactyly.
Clinodactyly
Radial bowing of the fifth finger.
Most often a sporadic incidental finding. DD: includes genetic syndromes such as trisomy 21, Russell-Silver, Feingold, Robinow, and Cornelia de Lange syndromes (see Table 5.59and brachydactyly type A3).
Senior syndrome
Shortening of middle phalanx of the fifth finger, fusion of middle and distal phalanges of the fifth toe, and absence of middle and distal phalanx of fifth toe.
Short children with tiny toenails.
Coffin-Siris syndrome
Absence of the distal phalanges of the fifth fingers and fifth toes.
Mental retardation with absent nail and terminal phalanx of the fifth finger.
Table 5.64 Hands and feet: metacarpals and metatarsals
Diagnosis
Findings
Comments
Idiopathic
Short fourth and fifth metatarsals.
Seen in 10% of normal population.
Radial ray anomalies
Hypoplastic thumb metacarpal.
The radial ray anomaly may be confined to the first metacarpal.
Fig. 5.106a–c Juvenile idiopathic arthritis and spotty carpus. T1- (a) and T2-weighted (b) MRI show osteitis and separate regions of synovium that have eroded into several carpal bones (arrows). (c) The intraosseous synovitis enhances with gadolinium (arrow).
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