Branchio-Oto-Renal Syndrome / 대한피부과학회지
Korean Journal of Dermatology
; : 1039-1042, 2009.
Article
em Ko
| WPRIM
| ID: wpr-122772
Biblioteca responsável:
WPRO
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.
Palavras-chave
Texto completo:
1
Índice:
WPRIM
Assunto principal:
Pele
/
Biópsia
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Síndrome Brânquio-Otorrenal
/
Parto
/
Fístula
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Perda Auditiva
/
Pescoço
Tipo de estudo:
Prognostic_studies
Limite:
Adolescent
/
Female
/
Humans
Idioma:
Ko
Revista:
Korean Journal of Dermatology
Ano de publicação:
2009
Tipo de documento:
Article