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홍정주(Jeong Joo Hong),신유섭(Yoo Seob Shin),김윤태(Yun Tae Kim),김철호(Chul-Ho Kim) 대한두경부종양학회 2011 대한두경부 종양학회지 Vol.27 No.1
Branchio-otic syndrome(BOS) is a relatively uncommon genetic malformation associated with dysmorpho-genesis of the first and second branchial arches and is characterized by branchial fistulae, congenital preauric-ular fistulae, and anomalies of the pinnae, external, middle, and inner ears, accompanied by hearing loss. Recently, we experienced a case of BOS in a 10 years old female patient and report this case with a review of literature. 10-year-old girl presented with hearing impairment, bilateral preauricular fistula and cervical fistula. The pure tone audiometry revealed that she had 60dB sensorineural hearing loss on right side and 90dB mixed hearing loss on left. Bilateral branchial fistula was found on the neck CT scan and bilateral ossicular and cochlear ab-normality combined with enlarged internal auditory canal was noted on the temporal bone CT scan. To inves-tigate the association with EYA1 gene, we performed DNA sequncing with peripheral white blood cell and found the point mutations on Exon 7, 12 and 16 of EYA1 gene. The preauricular fistula and branchial fistula was excised surgically and hearing aid was applied on her left side. There was no sign of fistula recurrence for sev-en years after the surgery.