A Case of Branchio-Oto-Renal Syndrome / 대한이비인후과학회지
Korean Journal of Otolaryngology - Head and Neck Surgery
;
: 784-787, 2011.
Artículo
en Coreano
| WPRIM
| ID: wpr-654278
ABSTRACT
The branchio-oto-renal (BOR) syndrome is a clinically and genetically heterogeneous disease entity which is characterized by the association of preauricular pits, branchial cleft anomaly, hearing loss and various renal anomalies. The incidence of BOR syndrome is approximately 1 40,000 and its genetic pattern of transmission is autosomal dominant. Hearing loss is the most common feature of BOR syndrome and is reported in almost 90% of affected individuals. EYA1, the human homologue of the Drosophila eyes absent gene, has been shown to cause BOR syndrome. We report, with a review of literatures, a female patient with BOR syndrome.
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Región Branquial
/
Incidencia
/
Síndrome Branquio Oto Renal
/
Drosophila
/
Ojo
/
Pérdida Auditiva
Tipo de estudio:
Estudio de incidencia
/
Estudio pronóstico
Límite:
Femenino
/
Humanos
Idioma:
Coreano
Revista:
Korean Journal of Otolaryngology - Head and Neck Surgery
Año:
2011
Tipo del documento:
Artículo
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