Cited 0 times in Scipus Cited Count

A Case of Branchio Otic Syndrome

Other Title
아가미귀 증후군 1예
Authors
홍, 정주  | 신, 유섭  | 김, 윤태  | 김, 철호
Citation
Korean journal of head & neck oncology, 27(1). : 84-87, 2011
Journal Title
Korean journal of head & neck oncology
ISSN
1229-51832586-2553
Abstract
Branchio-otic syndrome(BOS) is a relatively uncommon genetic malformation associated with dysmorphogenesis of the first and second branchial arches and is characterized by branchial fistulae, congenital preauricular 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 abnormality combined with enlarged internal auditory canal was noted on the temporal bone CT scan. To investigate 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 seven years after the surgery.
Keywords

Appears in Collections:
Journal Papers > School of Medicine / Graduate School of Medicine > Otolaryngology
Ajou Authors
김, 윤태  |  신, 유섭  |  홍, 정주
Files in This Item:
There are no files associated with this item.
Export

qrcode

해당 아이템을 이메일로 공유하기 원하시면 인증을 거치시기 바랍니다.

Items in DSpace are protected by copyright, with all rights reserved, unless otherwise indicated.

Browse