title: Kniest syndrome with dominant inheritance and mucopolysacchariduria.
abstract: A mother and daughter with clinical and radiographic findings typical of the Kniest syndrome are reported. It is apparent that this syndrome is dominantly inherited and that sporadic cases may represent fresh mutations. Abnormally high keratan sulfate excretion was found, indicating that the Kniest syndrome is a mucopolysacchariduria.
mesh_terms: D000293:Adolescent; D000328:Adult; D004392:Dwarfism / Q000000981:diagnostic imaging / Q000235:genetics* / Q000652:urine; D005260:Female; D005799:Genes, Dominant; D006025:Glycosaminoglycans / Q000652:urine; D006801:Humans; D007223:Infant; D009083:Mucopolysaccharidoses / Q000000981:diagnostic imaging / Q000235:genetics* / Q000652:urine; D011859:Radiography; D013577:Syndrome
chemical_list: D006025:Glycosaminoglycans