Download Advances in Human Genetics by David L. Rimoin (auth.), Harry Harris, Kurt Hirschhorn PDF

By David L. Rimoin (auth.), Harry Harris, Kurt Hirschhorn (eds.)

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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 feet are severely clubbed with metatarsus varus and equinus.

The respiratory distress developed when the patient was placed on his back, but when he lay on his abdomen cyanosis would disappear. They point out the importance of carefully positioning infants with diastrophic dwarfism who develop respiratory distress, as collapsing laryngeal cartilages may be a common feature of this syndrome. 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.

Adult height has ranged from 39 to 42 inches. The limbs are extremely short, the degree of deformity being most marked distally. The hands are short and appear deformed; the fingers are extremely short and may be functionless. Polydactyly has been described in half of the affected patients. The feet are short, broad, and deformed, and held in a valgus position. Radiographic abnormalities are confined to the limbs, the trunk and skull being completely normal. All of the bones of the limbs are affected by varying degrees of aplasia or hypoplasia.

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