Branchio-Oto-Renal 증후군 1예
A Case of Branchio-Oto-Renal Syndrome
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초록
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.
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.
참고문헌 (16)
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