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  • Title: Biliary dysgenesis and congenital cardiovascular malformation association.
    Author: Czeizel A.
    Journal: Acta Paediatr Hung; 1987; 28(1):63-80. PubMed ID: 3620198.
    Abstract:
    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.
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