Brill P W, Kim H J, Beratis N G, Hirschhorn K
Am J Roentgenol Radium Ther Nucl Med. 1975 Nov;125(3):731-8. doi: 10.2214/ajr.125.3.731.
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.
本文描述了一位母亲和女儿患有与尿中硫酸角质素排泄相关的克尼斯综合征的X线和临床发现。骨质疏松、脊柱侧弯、椎体不规则、骨盆畸形、股骨头扁平以及长骨末端增大是主要的X线表现。在女儿身上观察到生长板两侧的骨化不规则，并且母亲的几个异常关节出现了明显的退行性改变。两位患者均观察到异常的黏多糖尿，母亲还出现了白内障、耻骨联合融合和腕骨缺如，这些情况此前尚未见报道。
