[Clinico-genetic analysis of congenital biliary atresia]

Clinical and genetic analysis of 148 cases of biliary atresia identified in our patients and the literature data allowed to establish the genetic heterogeneity for these congenital malformations, determine the contribution of congenital syndromes to their origin and estimate empirical risk for probands sibs. Possible reasons for a high (9.8%) recurrent risk in sibs of the patients with intrahepatic biliary atresia are discussed. Special examination of probands and their parents to differentiate risk and evaluate the possibility of prenatal diagnosis is proposed. A supposedly "new" syndrome with autosomal recessive mode of inheritance associated with extrahepatic biliary atresia is reported.