Journal of Inherited Metabolic Disease

, Volume 2, Issue 3, pp 75–78 | Cite as

Keratan sulphate excretion in a patient with Kniest dysplasia

  • C. A. Pennock
  • I. R. S. Gordon
  • K. Longdon
  • D. Burman
Article

Abstract

The clinical and radiological features of a patient with Kniest dysplasia, a form of metatropic dwarfism, are described. The patient excreted glycosaminoglycans (mucopolysaccharides) in normal amounts during infancy but subsequently showed abnormal keratan sulphate excretion. The significance of these findings and the possibility that Kniest dysplasia represents another mucopolysaccharidosis are discussed.

Keywords

Public Health Sulphate Internal Medicine Metabolic Disease Normal Amount 

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Copyright information

© MTP Press Limited 1979

Authors and Affiliations

  • C. A. Pennock
    • 1
  • I. R. S. Gordon
    • 2
  • K. Longdon
    • 2
  • D. Burman
    • 2
  1. 1.Department of Chemical PathologyBristol Maternity HospitalBristol
  2. 2.Department of Child HealthUniversity of Bristol and Bristol Royal Hospital for Sick ChildrenBristol

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