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KMID : 0363220090470091039
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Korean Journal of Dermatology
2009 Volume.47 No. 9 p.1039 ~ p.1042
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Hwang Chul
Kim Dae-Hun
Back Seung-Ju
Lee Young
Seo Young-Joon
Lee Jeung-Hoon
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Abstract
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Branchio-oto-renal (BOR) syndrome is a rare congenital anomaly that is characterized by preauricular pits, branchial fistula and hearing impairment and it is often combined with renal anomalies. BOR syndrome is inherited in an autosomal dominant mode and the mutations of two genes, EYA1 and SIX1, have been identified. We experienced a case of a 14-year-old female who complained of bilateral neck openings and hearing loss that were found at birth the girl’s family had a familial tendency for these features. A skin biopsy from the cervical lesion showed the characteristic features of branchial fistula. We report here on a case of BOR syndrome and we review the relevant literature.
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KEYWORD
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Branchial fistula, Branchio-oto-renal (BOR) syndrome, Familial, Hearing loss
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