家族性Nance-Horan综合征先天性白内障及相关手术并发症的产前诊断

K SivakumarGayathri, Mhapankar Gunjan, Siu Victoria Mok, Sharan Sapna
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引用次数: 0

摘要

Nance-Horan综合征(NHS)最早由美国的Walter E. Nance和澳大利亚的Margaret B. Horan于1974年报道[1]。作为一种罕见的x连锁遗传性疾病,NHS的特点是一系列眼科特征、牙齿异常、面部畸形和智力发育迟缓[1,2]。在现有文献中描述的NHS家庭不到70个,疾病的患病率和发病率仍然难以捉摸。致病NHS基因的突变,定位于染色体区域Xp22.13,损害中脑、视网膜、晶状体、牙齿和颅面发育的调节[1,4]。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Antenatal diagnoses of congenital cataracts and related surgical complications in a familial case of Nance-Horan Syndrome
Nance-Horan Syndrome (NHS) was initially reported in 1974 by Walter E. Nance in the United States and Margaret B. Horan in Australia [1]. As a rare X-linked hereditary disorder, NHS is characterized by a constellation of ophthalmologic features, dental anomalies, facial dysmorphism, and intellectual delay [1,2]. With fewer than 70 NHS families described in the existing literature, the disease prevalence and incidence remain elusive. Mutations in the causative NHS gene, mapping to chromosome region Xp22.13, impair regulation of midbrain, retina, lens, tooth, and craniofacial development [1,4].
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