Keratan sulphate excretion in a patient with Kniest dysplasia.
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 represent another mucopolysaccharidosis are discussed.
D000015:Abnormalities, Multiple / Q000175:diagnosis*; D019411:Clinical Laboratory Techniques; D004392:Dwarfism / Q000175:diagnosis* / Q000000981:diagnostic imaging / Q000235:genetics; D005260:Female; D006025:Glycosaminoglycans / Q000652:urine*; D006801:Humans; D007223:Infant; D007632:Keratan Sulfate / Q000652:urine*; D011859:Radiography
D006025:Glycosaminoglycans; D007632:Keratan Sulfate