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 represent another mucopolysaccharidosis are discussed.
Subject(s)
Abnormalities, Multiple/diagnosis , Dwarfism/diagnosis , Glycosaminoglycans/urine , Keratan Sulfate/urine , Clinical Laboratory Techniques , Dwarfism/diagnostic imaging , Dwarfism/genetics , Female , Humans , Infant , RadiographyABSTRACT
Simple methods for the detection of keratan sulphate in urine have been applied to over 300 urine samples collected from children and adults with bone and cartilage dysplasias with or without mental retardation. Abnormal keratan sulphate excretion, which is a feature of type IV mucopolysaccharidosis (Morquio syndrome), is found in patients with that condition only during childhood. Abnormal excretion is also a feature of Kniest dysplasia and GM1 gangliosidosis and may be present in a number of other bone and cartilage dysplasias of unknown aetiology.
