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遗传性眼病综合征世界上已发现157种以上,我国亦已报告几十种。Waardenburg 氏综合征自从德国眼科医师 Waardenburg 1950年首先报告以来,各种临床表现业已基本了解,其遗传方式也已明确为常染色体显性遗传。有的参考书则错误地认为系父传子的伴性遗传。国内迄今仅先后见到两次病例报告,各一例,均未记述有关家族方面的资料。1984年,根据首证者(第一代,女患者黄马氏,69岁)线索,调查了宁夏中卫县永康公社该黄姓汉族家系。应用眼科和耳鼻咽喉科临床常规检查法,调查了全家系25人,
Hereditary eye syndrome has been found in the world 157 or more, China has reported dozens of species. Waardenburg’s syndrome Since the first report by the German ophthalmologist Waardenburg in 1950, various clinical manifestations have been basically understood, and their inheritance has been clearly defined as autosomal dominant. Some reference books mistakenly consider the inheritance of the father son. So far only two cases have been reported so far in the country, one case in each case, and no information on the clan was recorded. In 1984, based on the clues of the first-born (first generation, female patient Huang Ma’s, age 69), a survey was conducted on the Huang family of Han families in Yongkang Commune, Zhongwei County, Ningxia. Application of ophthalmology and otolaryngology routine clinical examination, surveyed the whole family of 25 people,