Branchio-Oto-Renal Syndrome / 대한피부과학회지
Korean Journal of Dermatology
;
: 1039-1042, 2009.
Article
in Korean
| WPRIM
| ID: wpr-122772
ABSTRACT
Branchio-oto-renal (BOR) syndrome is a rare congenital anomaly that is characterized by preauricular pits, branchial fistula and hearing impairment and it is often combined with renal anomalies. BOR syndrome is inherited in an autosomal dominant mode and the mutations of two genes, EYA1 and SIX1, have been identified. We experienced a case of a 14-year-old female who complained of bilateral neck openings and hearing loss that were found at birth the girl's family had a familial tendency for these features. A skin biopsy from the cervical lesion showed the characteristic features of branchial fistula. We report here on a case of BOR syndrome and we review the relevant literature.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Skin
/
Biopsy
/
Branchio-Oto-Renal Syndrome
/
Parturition
/
Fistula
/
Hearing Loss
/
Neck
Type of study:
Prognostic study
Limits:
Adolescent
/
Female
/
Humans
Language:
Korean
Journal:
Korean Journal of Dermatology
Year:
2009
Type:
Article
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