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一个家族中出现劳伦斯-穆恩-比德尔综合征(?)和普拉德-威利综合征(?)。

Laurence-Moon-Biedl syndrome (?) and Prader-Willi syndrome (?) in a single family.

作者信息

Endo M, Tasaka Y, Matsuura N, Matsuda I

出版信息

Eur J Pediatr. 1976 Nov 3;123(4):269-76. doi: 10.1007/BF00444648.

Abstract

Mental retardation, hypogonadism, obesity, and abnormal blood sugar regulation were common findings in two siblings. In addition, the 17-year-old female patient showed short stature, muscular hypotonia in infancy, and small hands with tapering fingers suggesting Prader-Willi syndrome, and the 12-year-old male patient showed retinitis pigmentosa, normal height, and normal muscular tonicity suggesting Laurence-Moon-Biedl syndrome, though polydactyly was absent. Possible consideration was discussed.

摘要

智力发育迟缓、性腺功能减退、肥胖和血糖调节异常是两兄妹的常见症状。此外,17岁女性患者身材矮小,婴儿期肌张力低下,双手小且手指逐渐变细,提示普拉德-威利综合征;12岁男性患者患有视网膜色素变性,身高正常,肌张力正常,提示劳伦斯-穆恩-比德尔综合征,尽管没有多指畸形。文中讨论了可能的考虑因素。

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