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Keratan sulphate excretion in a patient with Kniest dysplasia

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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.

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References

  1. Gordon, I. R. S. Measurement of cranial capacity in children.Br. J. Radiol. 39 (1966) 377–381

  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) 755–764

  3. Longdon, K. and Pennock, C. A. Abnormal keratan sulphate excretion.Ann. Clin. Biochem. 16 (1979) 152–154

  4. Matalon, R., Arbogast, B. and Dorfman, A. Morquio's syndrome: a deficiency of chondroiton sulfate N-acetylhexosamine sulfate sulfatase.Pediatr. Res. 8 (1974) 436

  5. Maroteaux, P. and Lamy, M. Studying the mucopolysaccharidoses.Lancet 2 (1967) 510

  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) 847–849

  7. Pennock, C. A. Glycosaminoglycan excretion.M.D. Thesis (1973) University of Bristol

  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) 111–123

  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) 193–208

  10. Spranger, J. W. and Langer, W. O. Spondylo-epiphyseal dysplasia congenita.Radiology 94 (1970) 313–322

  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) 779–782

  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)

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Pennock, C.A., Gordon, I.R.S., Longdon, K. et al. Keratan sulphate excretion in a patient with Kniest dysplasia. J Inherit Metab Dis 2, 75–78 (1979). https://doi.org/10.1007/BF01801723

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Keywords

  • Public Health
  • Sulphate
  • Internal Medicine
  • Metabolic Disease
  • Normal Amount