Skeletal abnormalities in the Kniest syndrome with mucopolysacchariduria.
The roentgenographic and clinical findings are described in a mother and daughter with the Kniest syndrome associated with urinary keratan sulfate excretion. Osteoporosis, kyphoscoliosis, vertebral irregularity, pelvic deformity, flat femoral heads and enlargement of the ends of the long bones were the main roentgen findings. Irregularity of ossification on both sides of the growth plate was observed in the daughter, and marked degenerative changes were superimposed on several of the mother's abnormal joints. Abnormal mucopolysacchariduria, observed in both patients, and cataracts, fusion of the symphysis pubis, and deficiency of carpal bones, seen in the mother, have not been described previously.
D000293:Adolescent; D000328:Adult; D001848:Bone Diseases, Developmental / Q000000981:diagnostic imaging* / Q000235:genetics / Q000652:urine; D001842:Bone and Bones / Q000000981:diagnostic imaging*; D004392:Dwarfism / Q000175:diagnosis / Q000000981:diagnostic imaging; D005260:Female; D005528:Foot / Q000000981:diagnostic imaging; D006025:Glycosaminoglycans / Q000652:urine*; D006225:Hand / Q000000981:diagnostic imaging; D006801:Humans; D007632:Keratan Sulfate / Q000652:urine*; D009083:Mucopolysaccharidoses / Q000235:genetics; D010388:Pelvis / Q000000981:diagnostic imaging; D011859:Radiography; D013577:Syndrome; D014953:Wrist / Q000000981:diagnostic imaging
D006025:Glycosaminoglycans; D007632:Keratan Sulfate