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  • Title: A Case of Branchio-oculo-facial Syndrome.
    Author: Park MY, Kim YC.
    Journal: Ann Dermatol; 2009 Aug; 21(3):288-90. PubMed ID: 20523806.
    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.
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