Waardenburg综合征1例  

A Case of Waardenburg Syndrome

作　　者：李庆研[1] 耿松梅[1] 马慧群[1] 

机构地区：[1]西安交通大学第二附属医院,陕西西安710004

出　　处：《中国皮肤性病学杂志》2016年第11期1153-1154,共2页The Chinese Journal of Dermatovenereology

摘　　要：患者女,14岁。先天性神经性耳聋,蓝色虹膜,内眦变宽,早熟灰发,面部躯干四肢色素沉着斑。家族无类似病史。诊断Waardenburg综合征Ⅰ型。患者随访中。A 14-year-old female manifested as congenital deafness, hypoplastic blue irises, dystopia canthorum, premature greying of hair and hyperpigmentation on the face and trunk and limbs. There is no similar presentation in her family. The patient was diagnosed as Waardenburg syndrome typeⅠ. The patient was followed up.

关 键 词：WAARDENBURG综合征 先天性神经性耳聋 蓝色虹膜 

分 类 号：R758.5[医药卫生—皮肤病学与性病学]