Skip to main content
Log in

X-linked spondyloepiphyseal dysplasia tarda: mucopolysaccharide excretion studies

  • Published:
Clinical Rheumatology Aims and scope Submit manuscript

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.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Similar content being viewed by others

References

  1. Spranger J. and Langer L.O. Spondyloepiphyseal Dysplasias. Birth Defects 1974, 10, 19–61.

    Google Scholar 

  2. McKusick V.A. Heritable and Developmental Disorders of Connective Tissue and Bone. In: McCarty, D.J. Arthritis and Allied Conditions, 9th ed., Lea and Febiger, 1979, Philadelphia, 953–976.

    Google Scholar 

  3. Ritchie J.C., Smith S.F. and Castor C.W. Measurement of Urinary and Serous-fluid Glycosaminoglycans and Urinary Hydroxyproline. Am. J. Clin. Pathol 1977, 67, 585–590.

    Google Scholar 

  4. Bitter T. and Muir H.M. A Modified Uronic Acid Carbazole Reaction. Anal. Biochem. 1962, 4, 330–334.

    Google Scholar 

  5. Brown A.H. Determination of Pentose in the Presence of Large Quantities of Glucose. Arch. Biochem. Biophys. 1946, 11, 269–278.

    Google Scholar 

  6. Roseman S. and Daffner I. Colorimetric Method for Determination of Glucosamine and Galactosamine. Anal. Chem. 1956, 28, 1734–1746.

    Google Scholar 

  7. Seifter S. Dayton S. Novic B. and Muntwyler E. The Estimation of Glycogen with the Anthrone Reagent. Arch. Biochem. 1950, 25, 191–200.

    Google Scholar 

  8. Bannerman R.M. X-linked Spondyloepiphyseal Dysplasia Tarda. Birth Defects: Original Article Series. D. Bergsma, Ed., 1969, 5, 48–51.

  9. Maroteaux P. Lamy M. and Bernard J. La Dysplasie Spondylo-Epiphysaire Tardive. Presse Med. 1957, 65, 1205–1208.

    Google Scholar 

  10. Langer L.O., Jr. Spondyloepiphyseal dysplasia tarda. Hereditary Chondrodysplasia with Characteristic Vertebral Configuration in the Adult. Radiology 1964, 82, 833–839.

    Google Scholar 

  11. McKusick V.A. Heritable Disorders of Connective Tissue, 4td ed., C.V. Mosby Co., 1972, St. Louis, 521–686.

    Google Scholar 

Download references

Author information

Authors and Affiliations

Authors

Rights and permissions

Reprints and permissions

About this article

Cite this article

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

Download citation

  • Accepted:

  • Issue Date:

  • DOI: https://doi.org/10.1007/BF02032087

Key words

Navigation