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A Case of Branchio Otic Syndrome

DC Field Value Language
dc.contributor.author홍, 정주-
dc.contributor.author신, 유섭-
dc.contributor.author김, 윤태-
dc.contributor.author김, 철호-
dc.date.accessioned2014-02-24T01:13:33Z-
dc.date.available2014-02-24T01:13:33Z-
dc.date.issued2011-
dc.identifier.issn1229-5183-
dc.identifier.urihttp://repository.ajou.ac.kr/handle/201003/9445-
dc.description.abstractBranchio-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.-
dc.language.isoko-
dc.titleA Case of Branchio Otic Syndrome-
dc.title.alternative아가미귀 증후군 1예-
dc.typeArticle-
dc.subject.keywordbranchio-oto-renal syndrome-
dc.subject.keywordbranchial cleft cyst-
dc.subject.keywordhearing loss-
dc.subject.keywordeyes absent protein-
dc.subject.keyworddrosophilia-
dc.contributor.affiliatedAuthor신, 유섭-
dc.contributor.affiliatedAuthor김, 윤태-
dc.contributor.affiliatedAuthor김, 철호-
dc.type.localJournal Papers-
dc.citation.titleKorean journal of head & neck oncology-
dc.citation.title대한두경부종양학회지-
dc.citation.volume27-
dc.citation.number1-
dc.citation.date2011-
dc.citation.startPage84-
dc.citation.endPage87-
dc.identifier.bibliographicCitationKorean journal of head & neck oncology, 27(1):84-87, 2011-
Appears in Collections:
Journal Papers > School of Medicine / Graduate School of Medicine > Otolaryngology
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