【摘要】 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。更多还原

【Abstract】 Objective To explore the incidence of Waardenburg syndrome in Chinese deaf-and-dumb population,a spot check was carried out in several deaf-and-dumb schools.Methods The medical history was taken using a structured questionnaire.General physical examination and otological examination were conducted in these patients.Results There are 17 Waardenburg syndrome cases were found in 2466 deaf-mutes in 9 provinces of China.The composing rate is 0.69%.Nine are type Ⅰ and 8 are type Ⅱ Waardenburg syndrome cases.Conclusion No Waardenburg syndrome case was found in Qinhai,Shanxi,Sinkiang,Ningxia,Guangdong and Guangxi province,these regions maybe have low incidence of Waardenburg syndrome.Perhaps type I and type Ⅱ are the most common type of Waardenburg syndrome in Chinese deaf-and-dumb population.更多还原