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KMID : 0361020110540070493
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Korean Journal of Otolaryngology - Head and Neck Surgery
2011 Volume.54 No. 7 p.493 ~ p.496
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A Case of Branchio-Otic Syndrome
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Kim Tae-Yong
Eom Jae-Wook
Kwak Hyun-Ho
Heo Kyung-Wook
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Abstract
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Branchio-oto-renal (BOR) syndrome is a clinically heterogeneous autosomal dominant form of syndromic hearing loss characterized by variable hearing impairment, malformations of the pinnae, the presence of branchial arch remnants, and various renal abnormalities. BOR syndrome is caused by mutations in EYA1 and SIX1, which are critical to organogenesis and are expressed together in developing otic, branchial, and renal tissue. Branchio-otic (BO) syndrome comprises branchial fistulas and preauricular pits, but lacks renal anomalies. We present a case of BO syndrome in 30year-old man with a review of the literature.
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KEYWORD
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Branchial cleft cyst, Branchio-Oto-Renal Syndrome
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