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X-linked spondyloepiphyseal dysplasia tarda: mucopolysaccharide excretion studies

Authors
Journal
Clinical Rheumatology
0770-3198
Publisher
Springer-Verlag
Publication Date
Disciplines
  • Medicine

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.

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