Brown K S, Bergsma D R, Barrow M V
Birth Defects Orig Artic Ser. 1971 Mar;07(4):102-9.
The inherited syndrome of irregular depigmentation of the skin, hair, iris and ocular fundus with associated congenital defects of the inner ear resulting in hearing loss or deafness occurs in several different species including man. The "deaf white cat" provides a useful model of this syndrome. There are several genetic mechanisms involved. The deafness is sometimes progressive in the newborn period. The pathology suggests involvement of the neural crest.
皮肤、毛发、虹膜和眼底出现不规则色素脱失,并伴有内耳先天性缺陷导致听力丧失或失聪的遗传性综合征,在包括人类在内的几种不同物种中都有发生。“失聪白猫”为此综合征提供了一个有用的模型。涉及多种遗传机制。耳聋在新生儿期有时会逐渐发展。病理学提示神经嵴受累。