1951年,人们已认识Waardenburg氏综合征是一种常染色体遗传性疾病。1971年,Arias提出Waardenburg氏综合征可分为两型。Ⅰ型的特征与Waardenbug本人描述的那样,其特征为眼角错位、明显的面部特征及双侧耳聋。Ⅱ型的眼角错位较少见,面部可正常,白额发通常存在,耳蜗累及的频率比Ⅰ型高。作者对犹太民族的两个家族调查了33例该病患 In 1951, Waardenburg’s syndrome was recognized as an autosomal genetic disease. In 1971, Arias proposed Waardenburg’s syndrome can be divided into two types. Type I features, as described by Waardenbug himself, are characterized by dislocation of the corners of the eye, pronounced facial features, and bilateral deafness. Type II dislocation of the eye is less common, the face can be normal, white hair usually exists, the frequency of cochlear involvement than the type Ⅰ high. The authors investigated 33 patients with two families of Jewish ethnicity