頁籤選單縮合
題名 | Unusual Cardiac Malformation in Holt-Oram Syndrome=Holt-Oram症候群的罕見心臟異常 |
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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. |
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