Spondylo-epiphyseal dysplasia with unusual skull changes.
D000293:Adolescent; D003638:Deafness; D006801:Humans; D006984:Hypertrophy; D008297:Male; D009085:Mucopolysaccharidosis IV / Q000000981:diagnostic imaging*; D009216:Myopia; D010013:Osteogenesis Imperfecta; D010985:Platybasia; D011859:Radiography; D012163:Retinal Detachment; D012886:Skull / Q000000981:diagnostic imaging*