Summary
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.
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Thompson, G.R., Thompson, D.E., McCann, D.S. et al. X-linked spondyloepiphyseal dysplasia tarda: mucopolysaccharide excretion studies. Clin Rheumatol 1, 281–284 (1982). https://doi.org/10.1007/BF02032087
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DOI: https://doi.org/10.1007/BF02032087