X-linked spondyloepiphyseal dysplasia tarda: mucopolysaccharide excretion studies

Clin Rheumatol. 1982 Dec;1(4):281-4. doi: 10.1007/BF02032087.

Abstract

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.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Female
  • Genetic Linkage
  • Glycosaminoglycans / urine*
  • Humans
  • Male
  • Mucopolysaccharidosis IV / genetics
  • Mucopolysaccharidosis IV / urine*
  • X Chromosome

Substances

  • Glycosaminoglycans