A Case of Branchio-Otic Syndrome / 대한이비인후과학회지
Korean Journal of Otolaryngology - Head and Neck Surgery
;
: 493-496, 2011.
Article
in Korean
| WPRIM
| ID: wpr-654670
ABSTRACT
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.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Branchial Region
/
Branchioma
/
Branchio-Oto-Renal Syndrome
/
Organogenesis
/
Fistula
/
Hearing Loss
Language:
Korean
Journal:
Korean Journal of Otolaryngology - Head and Neck Surgery
Year:
2011
Type:
Article
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