Hands and Feet: Osseous Alterations
Diagnosis | Findings | Comments |
Osteosclerosis | Increased focal density with a narrow zone of transition. | DD: enostosis (bone island), terminal phalangeal sclerosis (associated with JIA), melorheostosis. |
Enchondroma Fig. 5.103, p. 564 | (see Table 5.71 ) | |
Periostitis | (see Table 5.81 ) | |
Elongation, megadactyly | (see Table 5.95 ) | |
Slender phalanges, arachnodactyly | Long and slender fingers. | Homocystinuria, Marfan syndrome, congenital arachnodactyly with contractures. |
Diagnosis | Findings | Comments |
Clubbing | Bulbous thickening of the ends of the fingers. Confined to the soft tissues and spares the bones. | Cyanotic heart disease, chronic lung disease, lung tumors, pachydermoperiostosis, chronic gastrointestinal disease, gigantism. |
Hyperplasia | Widening of the tuft with a narrow shaft (drumstick appearance). | Normal variant, Coffin-Lawry (drumstick terminal phalanges), Holt-Oram syndrome (triphalangeal thumb). |
Hypoplasia | (see Table 5.59 ) | |
Acroosteolysis | Resorption or erosions of the distal phalanges, especially the tufts. | Congenital: brachydactyly type B (see Table 5.59 ). DD: trauma, infection, frostbite, leprosy, psoriasis, hyperuricemia, polyvinyl toxicity, insensitivity to pain, epidermolysis bullosa, secondary hyperparathyroidism. |
Diagnosis | Findings | Comments |
Brachydactyly isolated | (see Table 5.59 ) | |
Radial ray anomalies Fig. 5.86, p. 553 | VACTERL, Holt-Oram syndrome, thrombocytopenia absent radius syndrome, Fanconi pancytopenia. | |
Triphalangeal thumb | 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. |
Acrocephalosyndactyly (Apert syndrome) Fig. 5.105, p. 566 | 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. | Nonspecific finding seen in otopalatodigital syndrome, frontodigital syndrome, hand-foot-uterus syndrome, progressive myositis ossifi-cans, diastrophic dysplasia (hitchhiker thumb), Larsen syndrome, Leri pleonosteosis, hemifacial microsomia (Goldenhar syndrome), trisomy 13 (polydactyly), Poland syndrome (syndactyly), thalidomide embryopathy, Juberg-Hayward syndrome, etc. |
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 5.59 and 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. |
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. |
Turner syndrome | Short fourth and fifth and ± third metacarpals. | |
Sickle cell disease | Shortening secondary to infarction. | |
Pseudohypoparathyroidism, pseudopseudohypoparathyroidism | Short fourth and fifth metacarpals. | Subcutaneous calcifications. Shortening not seen in pseudohypoparathyroidism types 1b and 2. |
Homocystinuria | Short fourth metacarpal. | |
Other disorders associated with short metacarpals or metatarsals | Over 200 syndromes are associated with short metacar-pals or metatarsals. |
Diagnosis | Findings | Comments |
Coalition/fusion | Fibrous or osseous union between one or more carpal or tarsal bones. | Sporadic, acquired (trauma, JIA), or associated with syndromes (Holt-Oram, Turner, arthrogryposis, acrocephalosyndactyly). |
Pseudocyst, intraosseous lipoma, bone cyst, osteonecrosis | Well-defined region of lucency in the distal calcaneus. | MRI may help with the differential diagnosis. |
JIA, infection, pigmented villonodular synovitis | Multiple cystic lucencies. | Spotty carpus. |