Cantú J M, Ruenes R, García-Cruz D
Hum Genet. 1978 Jan 19;40(2):231-4. doi: 10.1007/BF00272307.
Three siblings, a boy and two girls aged 11, 9, and 4 years, were found to have a congenital disorder characterized by malformed, low-set ears and sensorineural-conductive hearing loss. Variable expressivity was evident, since the boy had both types I and III of microtia and his two sisters had only type I. The normal parents were third cousins. The analysis of these findings permits the identification of a distinct nosologic entity due to the homozygocity of an autosomal recessive mutation.
发现三个兄弟姐妹，一个男孩和两个女孩，年龄分别为11岁、9岁和4岁，患有一种先天性疾病，其特征为耳朵畸形、低位耳以及感音神经性传导性听力损失。由于男孩患有I型和III型小耳症，而他的两个姐妹仅患有I型小耳症，因此可变外显率很明显。正常的父母是第三代堂亲。对这些发现的分析允许因常染色体隐性突变的纯合性而识别出一种独特的疾病实体。
