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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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
- Public Health
- Internal Medicine
- Metabolic Disease
- Normal Amount