A case of achondrogenesis type I.
A case of achondrogenesis type I was observed in a stillborn infant of consanguineous parents. Additional abnormalities included cleft palate, corneal clouding, ear deformities, aplastic testes, and anal atresia. Radiological and histological findings are evaluated for the differential diagnosis.
D001842:Bone and Bones / Q000002:abnormalities*; D002356:Cartilage / Q000002:abnormalities*; D003240:Connective Tissue Diseases / Q000000981:diagnostic imaging; D006801:Humans; D008297:Male; D011859:Radiography