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| 題 名 | Unusual Cardiac Malformation in Holt-Oram Syndrome=Holt-Oram症候群的罕見心臟異常 |
|---|---|
| 作 者 | 盧建維; 歐天元; 華一鳴; 何慈育; 許木嶺; | 書刊名 | Journal of Medical Sciences |
| 卷 期 | 22:3 2002.06[民91.06] |
| 頁 次 | 頁139-142 |
| 分類號 | 417.132 |
| 關鍵詞 | Holt-Oram症候群; Autosomal dominant; Common atrioventricular valve; AV; Common atrium; Complete endocardial cushion defect; Holt-oram syndrome; |
| 語 文 | 英文(English) |
| 英文摘要 | The Holt-Oram syndrome denotes a developmental anomaly of the heart and the upper limbs. This syndrome is usually a familial disorder transmitted as an autosomal dominant trait with variable penetration. We report on a sporadic case involving this syndrome in a male newborn with unusual cardiac malformation: a complete endocardial cushion defect with a common atrium, common atrioventricular (AV) valve, and ventricular septal defect. This type of cardiac defect has rarely been reported in association with Holt-Oram syndrome. The clinical characteristics in our case are discussed and the literature is reviewed. |
本系統中英文摘要資訊取自各篇刊載內容。