JOURNAL ARTICLE
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Clinical variation in dyschondrosteosis. A report on 13 individuals in 8 families.

Thirteen patients with dyschondrosteosis from eight families are reviewed and their clinical and radiographic variation noted. Inheritance is likely to be autosomal dominant but with only 50 per cent penetrance. Stature was moderately reduced, due to shortening of the bones of the leg. Radio-ulnar shortening could either involve both bones equally or the radius predominantly, in which case a typical Madelung deformity was seen. Tibio-fibular disproportion was present in half the patients, two of them having severe deformity associated with tibia varum and a long fibula. The treatment of one of these patients is described. It is recommended that patients with dyschondrosteosis should be kept under surveillance during the growing period. Problems in the limbs, especially the legs, may require operations to equalise the length of the two bones.

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