Atelosteogenesis type III: A case report

摘要

We present a case of rhizomelic dwarfism with clinical, radiographic and histologic features in keeping with atelosteogenesis type III (spondylohumerofemoral hypoplasia). Unlike most other skeletal chondrodysplasias 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 surviving patient further defines the radiographic features of the condition and the natural history and prognosis for physical and intellectual disability.