Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type

Leroy et al. (1975) described a 'new' form of mesomelic dwarfism characterized by hypoplasia of the tibia and radius. A father and 2 of his sons were affected. The involvement of the tibia was severe with pseudarthrosis and phenomenal discrepancy in length of the fibula, the head of which was at the level of the distal part of the femoral diaphysis. In the Nievergelt syndrome (163400), both the tibia and the fibula are severely affected. Mesomelic dwarfism of the hypoplastic ulna, fibula and mandible type (249700) is inherited as an autosomal recessive. Other forms of mesomelic dwarfism are dyschondrosteosis (127300), which may be the heterozygous state of the Langer mesomelic dwarfism (249700), and hypoplastic ulna and fibula type (191400).