A Case of Branchio-oculo-facial Syndrome.

Author: Min Young PARK ¹ ; You Chan KIM
Author Information

1. Department of Dermatology, Ajou University School of Medicine, Suwon, Korea. maychan@ajou.ac.kr
Publication Type:Case Report
Keywords: Aplasia cutis; Branchio-oculo-facial syndrome
MeSH: Branchio-Oto-Renal Syndrome; Cleft Lip; Craniofacial Abnormalities; Ear; Hearing Loss, Conductive; Neck; Palate; Preschool Child; Skin
From:Annals of Dermatology 2009;21(3):288-290
CountryRepublic of Korea
Language:English
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.