Czeizel A
Acta Paediatr Hung. 1987;28(1):63-80.
In a population-based unselected registry material involving 1038 unidentified multiple congenital abnormalities there were 20 cases with a combination of biliary dysgenesis and congenital cardiovascular malformations. One subgroup contained 7 cases where the above combination was associated with other major congenital abnormalities. Another subgroup contained 13 cases with this combination of congenital anomalies. The family study detected two sib-occurrences. One of them was a typical manifestation of Alagille syndrome. There are probably some other characteristic combinations of these two types of congenital anomaly, e.g. ventricular septal defect and extrahepatic biliary taresia. This group of congenital anomaly combination of heterogeneous origin has been named biliary dysgenesis-congenital cardiovascular malformation association.
在一项基于人群的未经过筛选的登记资料中，涉及1038例不明原因的多发先天性异常，其中有20例存在胆道发育异常与先天性心血管畸形的组合。一个亚组包含7例，上述组合与其他主要先天性异常相关。另一个亚组包含13例具有这种先天性异常组合的病例。家族研究发现了两例同胞发病情况。其中之一是阿拉吉耶综合征的典型表现。这两种先天性异常可能还存在其他一些特征性组合，例如室间隔缺损和肝外胆道闭锁。这一组起源各异的先天性异常组合被命名为胆道发育异常-先天性心血管畸形关联。
