X-linked spondyloepiphyseal dysplasia tarda: mucopolysaccharide excretion studies.
Sex linked spondyloepiphyseal dysplasia tarda is described in a family with four affected members. The characteristic features of short trunk, hip disease, and flattening of the vertebrae with a posterior "hump" were present. Urinary mucopolysaccharides were characterized both quantitatively and qualitatively and were within normal values.
D000328:Adult; D005260:Female; D008040:Genetic Linkage; D006025:Glycosaminoglycans / Q000652:urine*; D006801:Humans; D008297:Male; D009085:Mucopolysaccharidosis IV / Q000235:genetics / Q000652:urine*; D014960:X Chromosome
D006025:Glycosaminoglycans