TWO CASES OF DYSCHONDROSTEOSIS

Abstract

Dyschondrosteosis is a syndrome of Madelung's deformity, mesomelia, and mildly short stature, which is probably transmitted through autosomal dominant inheritance. To our knowledge, only a few cases of this condition have been reported in the Japanese literature. We present two cases of dyschondrosteosis. In one case, the condition appears to have occurred sporadically. Apart from the changes typical of Madelung's deformity, roentgenograms of their extremities demonstrated various abnormalities of the proximal radius, tibia vara, shortening of the radius in relation to the humerus, and shortening of the tibia in relation to the femur. The probable relationship of Madelung's deformity, dyschondrosteosis, and mesomelic dwarfism is described.