色素减退
听力损失
医学
皮肤病科
色素沉着障碍
听力学
感音神经性聋
作者
Raoul C. M. Hennekam,Robert J. Gorlin
出处
期刊：American journal of medical genetics
[Wiley]
日期：1996-10-16
卷期号：65 (2): 146-148
被引量：9
标识
DOI：10.1002/(sici)1096-8628(19961016)65:2<146::aid-ajmg13>3.0.co;2-q
摘要
The Yemenite deaf-blind hypopigmentation syndrome is a rare disorder characterized by severe early hearing loss, microcornea and colobomata, and cutaneous pigmentation abnormalities. A girl with similar skin symptoms and hearing loss, but no microcornea or colobomata is described and compared to other reported patients.
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