Hereditary dysplasia of bone with kyphoscoliosis, contractures, and abnormally shaped ears.
D000328:Adult; D001842:Bone and Bones / Q000000981:diagnostic imaging; D003286:Contracture / Q000150:complications; D003937:Diagnosis, Differential; D004426:Ear Deformities, Acquired / Q000150:complications; D006801:Humans; D007231:Infant, Newborn; D007232:Infant, Newborn, Diseases / Q000175:diagnosis*; D007738:Kyphosis / Q000150:complications; D008297:Male; D008382:Marfan Syndrome / Q000175:diagnosis*; D010009:Osteochondrodysplasias / Q000175:diagnosis*; D010013:Osteogenesis Imperfecta / Q000175:diagnosis*; D011859:Radiography; D012600:Scoliosis / Q000150:complications