Ulna And Fibula, Hypoplasia Of

Clinical Features

Pfeiffer (1966) and Reinhardt and Pfeiffer (1967) studied a kindred with 14 persons affected by hypoplasia of ulna and fibula in the pattern of a regular autosomal dominant. In addition to the shortening and characteristic dysplasia of the ulna and fibula, there were changes of the radius and tibia and of adjacent portions of the skeleton as well. This disorder could be allelic to dyschondrosteosis (127300) which is thought to represent the heterozygous state of Langer mesomelic dwarfism of the hypoplastic ulna, fibula and mandible type (249700). Also see Nievergelt syndrome (163400).