ATELOSTEOGENESIS TYPE-III - A CASE-REPORT

We present a case of rhizomelic dwarfism with clinical, radiographic a nd histologic features in keeping with atelosteogenesis type III (spon dylohumerofemoral hypoplasia). Unlike most other skeletal chondrodyspl asias presenting with neonatal dwarfism, a proportion of patients with atelosteogenesis type III may survive well beyond the neonatal period , and hence early identification of the condition is important. Our su rviving patient further defines the radiographic features of the condi tion and the natural history and prognosis for physical and intellectu al disability.