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題 名 | Branchio-Oculo-Facial Syndrome: Case Report=鰓弓--眼--顏面症候群:病例報告 |
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作 者 | 林如立; 陳國鼎; | 書刊名 | 長庚醫學 |
卷 期 | 22:1 1999.03[民88.03] |
頁 次 | 頁128-132 |
分類號 | 417.5 |
關鍵詞 | 鰓弓--眼--顏面症候群; 鰓弓--耳--腎症候群; EYA1基因; Branchio-oculo-facial syndrome; BOF syndrome; Branchial-oto-renal syndrome; BOR syndrome; Eye absent-like 1; EYA1; |
語 文 | 英文(English) |
中文摘要 | 鰓弓--眼--顏面(BOF)症候群為一種自體顯性遺傳的疾病,到目前只有40多個病 例發表。我們在此報告臺灣第一個病例。 這是一位 7 歲大的中國男孩有典型的鰓弓 -- 眼 -- 顏面症候群, 包括雙側耳後頸上的鰓弓殘留囊、雙側鼻淚管阻塞及雙側低位後旋的耳朵 及唇顎裂。他有正常的智力與發育。 在臨床上,鰓弓 -- 眼 -- 顏面( BOF )症候群與鰓 弓 -- 耳 -- 腎( BOR )症候群有高度的重疊性, 如外耳異常、淚管阻塞、鰓弓發育異常 ,或腎臟、輸尿管異常。此兩症候群是否病因完全不同,或是同一基因的不同突變,或是連 續基因缺失的不同表現,至今仍未獲得完滿的解釋。引起鰓弓 -- 耳 -- 腎症候群的基因( EYA1 )已於 1997 年被發現。 偵測鰓弓 -- 眼 -- 顏面症候群的病患是否有 EYA1 基因的 突變,或許可以解答上述的爭議。 |
英文摘要 | Branchio-oculo-facial (BOF) syndrome is a rare dominant autosomal disorder. Less than 50 cases have been reported up to now. We present a Chinese boy with BOF syndrome who has characteristic features of bilateral postauricular cervical branchial cysts, bilateral complete cleft of primary palate, bilateral lacrimal duct obstruction and bilateral low set ears with posterior rotation. His intelligence and growth were normal at the age of 7 years. This is the first case reported in Taiwan. The overlap between BOR syndrome and BOF syndrome include external ear abnormalities with hearing loss, lacrimal duct obstruction, branchial cleft remnants, and renal or ureteral defects. The relationship between these two syndromes is still unclear. Contiguous gene deletion phenomenon, different mutations in the same gene, or distinct entities all have been proposed. The literature was reviewed and discussed, especially the reports about the gene EYA1 (eyes absent-like 1) , which is responsible for branchio-oto-renal syndrome. If we can detect mutations of EYA1 gene in BOF patients, this could be the key for solving the above debate. |
本系統中英文摘要資訊取自各篇刊載內容。