论文部分内容阅读
目的为了解Waardenburg综合征在中国人群的发病情况,对全国部分地区的聋校或聋儿康复机构进行抽样调查。方法通过填写问卷式调查表获取耳聋的相关信息,绘制家系的遗传图谱;依据详细的体格检查对病例进行分型诊断。结果对全国18省份(自治区)及2个直辖市的30个聋校或聋儿康复机构的在校学生2466名进行抽样调查,共采集到WS病例17例,构成比为0.69%;其中Ⅰ型病例9例,Ⅱ型病例8例,未收集到Ⅲ型和Ⅳ型病例。结论17例WS病例分布于9个省份(自治区),而西北四省及华南两省均未发现病例,可能上述地区是WS病例的低发区。我国先天性聋哑儿童患者中WS病例可能低于国外比例。中国耳聋人群中Ⅰ型和Ⅱ型为WS的常见类型,Ⅲ型和Ⅳ型可能为少见或罕见类型。
Objective To understand the incidence of Waardenburg syndrome in the Chinese population and conduct a sample survey of deaf schools or deaf children rehabilitation institutions in some parts of the country. Methods By questionnaire-based questionnaire access to relevant information deafness, draw the genetic map of the family; based on a detailed physical examination of the cases of type diagnosis. Results A total of 2466 school-aged students from 30 deaf schools or deaf children rehabilitation institutions in 18 provinces (autonomous regions) and 2 municipalities in China were sampled. A total of 17 WS cases were collected, with a ratio of 0.69%. Among them, type Ⅰ 9 cases, 8 cases of type Ⅱ, Ⅲ and Ⅳ cases were not collected. Conclusions 17 cases of WS are located in 9 provinces (autonomous regions), while no cases are found in the four provinces of Northwest China and South China. It is possible that these cases are the low incidence area of WS cases. WS cases of congenital deaf-mute children in China may be lower than the proportion of foreign countries. Type I and type II are common types of WS in Chinese deaf people, and type III and type IV may be rare or rare types.