Spondylo-epiphyseal dysplasia (pseudoachondroplastic type). Case report with pathologic and metabolic investigations.
D001847:Bone Diseases / Q000000981:diagnostic imaging*; D002356:Cartilage / Q000473:pathology; D002648:Child; D002869:Chromosome Aberrations; D025063:Chromosome Disorders; D004392:Dwarfism / Q000209:etiology; D006801:Humans; D017880:Limb Deformities, Congenital; D008141:Lordosis / Q000209:etiology; D008297:Male; D011859:Radiography; D012600:Scoliosis / Q000209:etiology; D013131:Spine / Q000002:abnormalities*