Hennekam R C, Gorlin R J
Institute of Human Genetics, Academic Medical Center, Amsterdam, The Netherlands.
Am J Med Genet. 1996 Oct 16;65(2):146-8. doi: 10.1002/(SICI)1096-8628(19961016)65:2<146::AID-AJMG13>3.0.CO;2-Q.
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.
也门先天性聋哑色素减退综合征是一种罕见的疾病，其特征为严重的早期听力丧失、小角膜和缺损，以及皮肤色素沉着异常。本文描述了一名具有类似皮肤症状和听力丧失，但无小角膜或缺损的女孩，并将其与其他报道的患者进行了比较。
