By David L. Rimoin (auth.), Harry Harris, Kurt Hirschhorn (eds.)
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The radiological changes in diastrophic dwarfism are quite distinctive. 16 1,166,318,323 The hands are short and broad with fusion of the proximal and middle phalanges (symphalangism) (Fig. 5B). The metacarpals and phalanges are short and wide, and irregularly ossified. The first metacarpal is oval or triangular in shape and set low on the carpus. The carpal bones show accelerated maturation and have dense, sharp borders. The ulna is 32 David L. Rimoin relatively short with resultant ulnar deviation of the hand.
The first metacarpal is oval or triangular in shape and set low on the carpus. The carpal bones show accelerated maturation and have dense, sharp borders. The ulna is 32 David L. Rimoin relatively short with resultant ulnar deviation of the hand. The feet are severely clubbed with metatarsus varus and equinus. The metatarsals and tarsals are short and irregular. The first metatarsal is short and ovoid. The fibula is also relatively short. The long bones are short and wide with flared metaphyses.
The odontoid is hypoplastic and there may be significant subluxation of CI and C2. There is a lack of flaring of the iliac crest. Examination of biopsies of rib and iliac crest from patients with SED congenita has revealed fairly regular endochondral ossification of the costochondral junction, with some blunting and irregularity of spicule formation. However, there is distinctly abnormal ossification at the iliac crest associated with hypo cellularity of the matrix and a lack of column formation resulting in an irregular array of broad, short spicules of calcified cartilage and bone (Fig.
Advances in Human Genetics by David L. Rimoin (auth.), Harry Harris, Kurt Hirschhorn (eds.)