A Case of Branchio-oculo-facial Syndrome.
作者信息
Park Min Young, Kim You Chan
机构信息
Department of Dermatology, Ajou University School of Medicine, Suwon, Korea.
出版信息
Ann Dermatol. 2009 Aug;21(3):288-90. doi: 10.5021/ad.2009.21.3.288. Epub 2009 Aug 31.
Abstract
Branchio-oculo-facial syndrome (BOFS) is a rare, autosomal dominant disorder. It is characterized by distinct craniofacial abnormalities including abnormal location of the ears, aplastic cervical skin lesions, malformed auricles, conductive hearing loss, ocular abnormalities, and cleft lip and palate. Herein, we describe a case of BOFS with persistent aplasia cutis of the neck in a 5-year-old girl.
摘要
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