Spondyloepiphyseal dysplasia tarda with progressive arthropathy.
The clinical and roentgenographic manifestations of six cases suffering from spondyloepiphyseal dysplasia tarda with progressive arthropathy are presented. The roentgenographic features consist of generalized platyspondyly and varying degrees of epiphyseal involvement with conspicuous enlargement of both ends of the short tubular bones of the hands. This disorder appears at an earlier age, and is more crippling than the usual form of spondyloepiphyseal dysplasia tarda. It is suggested that orthopaedic measures are essential for all patients with this disorder, as profound disability may be expected by progressive involvement of the major joints.
D000293:Adolescent; D000328:Adult; D005260:Female; D005808:Genes, Recessive; D006225:Hand / Q000000981:diagnostic imaging; D006801:Humans; D007592:Joint Diseases / Q000000981:diagnostic imaging / Q000235:genetics / Q000473:pathology*; D008297:Male; D009085:Mucopolysaccharidosis IV / Q000000981:diagnostic imaging* / Q000235:genetics; D011859:Radiography; D013131:Spine / Q000000981:diagnostic imaging