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


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.


Public Health Sulphate Internal Medicine Metabolic Disease Normal Amount 
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  1. Gordon, I. R. S. Measurement of cranial capacity in children.Br. J. Radiol. 39 (1966) 377–381Google Scholar
  2. Kim, H. J., Beratis, N. G., Brill, P., Raab, E., Hirschorn, K. and Matalon, R. Kniest syndrome with dominant inheritance and mucopolysacchariduria.Am. J. Hum. Genet. 27 (1975) 755–764PubMedGoogle Scholar
  3. Longdon, K. and Pennock, C. A. Abnormal keratan sulphate excretion.Ann. Clin. Biochem. 16 (1979) 152–154PubMedGoogle Scholar
  4. Matalon, R., Arbogast, B. and Dorfman, A. Morquio's syndrome: a deficiency of chondroiton sulfate N-acetylhexosamine sulfate sulfatase.Pediatr. Res. 8 (1974) 436Google Scholar
  5. Maroteaux, P. and Lamy, M. Studying the mucopolysaccharidoses.Lancet 2 (1967) 510PubMedGoogle Scholar
  6. Pedrini, V., Lennzi. and Zambotti, V. Isolation and identification of keratosulphate in urine of patients affected by Morquio-Ullrich disease.Proc. Soc. Exp. Biol. Med. 110 (1962) 847–849PubMedGoogle Scholar
  7. Pennock, C. A. Glycosaminoglycan excretion.M.D. Thesis (1973) University of BristolGoogle Scholar
  8. Pennock, C. A. A review and selection of methods used for the study of glycosaminoglycan excretion and the diagnosis of the mucopolysaccaridoses.J. Clin. Pathol. 29 (1976) 111–123PubMedGoogle Scholar
  9. Siggers, D. C., Rimoin, D. L., Dorst, J. P., Doty, S. B., Williams, B. R., Hollister, D. W., Silberberg, R., Cranley, R. E., Kaufman, R. L. and McKusick, V. A. The Kniest Syndrome InBirth Defects. Original Articles Series. National Foundation—March of Dimes 10 (1974) 193–208Google Scholar
  10. Spranger, J. W. and Langer, W. O. Spondylo-epiphyseal dysplasia congenita.Radiology 94 (1970) 313–322PubMedGoogle Scholar
  11. Stanescu, V. and Maroteaux, P. (1975). Gel electrophoretic studies on proteoglycans and collagen of abnormal human growth cartilage: Proteoglycan abnormalities in pseudoachondroplasia and in Kniest's disease.Pediatr. Res. 9 (1975) 779–782PubMedGoogle Scholar
  12. Tanner, J. M., Whitehouse, R. H., Marshall, W. A., Healy, M. J. R. and Goldstein, H.Assessment of Skeletal Maturity and Prediction of Adult Height (TW2 method), Academic Press, London (1975)Google Scholar

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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