Mesomelic Limb Shortening And Bowing

Clinical Features

Reardon et al. (1993) reported a brother and sister, the offspring of second-cousin Pakistani parents, with an apparently new form of mesomelic limb shortening and bowing with associated skin dimpling, retrognathia, mandibular hypoplasia, cleft palate, and camptodactyly. The sister died a few hours after birth from cardiorespiratory arrest and the brother was alive at age 4 years. Radiologic findings were incompatible with the diagnosis of campomelic dysplasia (114290). Differences from Langer mesomelic dysplasia (249700) were also noted.