Kyphomelic dysplasia: a report of a family with an autosomal dominant pattern

Kyphomelic dysplasia (KD) is a rare autosomal recessive entity characterize d by shortening and bowing of the limbs, skin dimples, abnormalities of met haphysis and ribs, a short trunk, a narrow thorax, neonatal respiratory dis tress, platyspondyly, and facial dysceptism with micrognathia, midfacial hy poplasia, and a broad nasal bridge. Some children die in early infancy. The survivors show normal hands, feet, cranium and psychomotor development. Th e condition varies in severity. The facial features and bowing improve duri ng childhood, and stature remains short during adulthood. We report here a family with KD inherited as an autosomal dominant trait, which appears to b e less severe than the autosomal recessive form, without facial and vertebr al a favorable outcome and with involvement and final short stature.