title: Extrahepatic biliary atresia and associated anomalies: etiologic heterogeneity suggested by distinctive patterns of associations.
abstract: Fifty-one cases of extrahepatic biliary atresia (EHBA) with associated anomalies were found in a study of EHBA (251 cases). Analysis of segregation patterns of these anomalies in individual patients suggested the existence of 2 major groups: (1) 15 cases (29.4%) with various combinations of anomalies within the laterality sequence, and (2) 30 cases (58.8%) with one or 2 anomalies mostly involving the cardiac, gastrointestinal, and urinary systems. These latter anomalies did not follow any recognizable pattern. The third group of 6 cases all had intestinal malrotation, some with preduodenal portal vein; these cases show some similarity to the laterality sequence group and may represent a more confined phenotypic result of faulty situs determination. This previously unattempted classification of patients with EHBA and associated anomalies might enable a more targeted approach towards identification of causes in this heterogeneous disorder. EHBA within the laterality sequence might prove a suitable candidate for a major gene mutation. Teratogenic, infectious and polygenic multifactorial causes might play a more significant role in EHBA associated with "nonsyndromic" organ system anomalies.
authors.affiliation: Clinical Genetics Unit, Soroka Medical Center, Ben Gurion University, Beer Sheva, Israel.
authors.forename: R
authors.initials: R
authors.lastname: Carmi
authors.forename: C A
authors.initials: CA
authors.lastname: Magee
authors.forename: C A
authors.initials: CA
authors.lastname: Neill
authors.forename: F M
authors.initials: FM
authors.lastname: Karrer
mesh_terms: D000015:Abnormalities, Multiple / Q000453:epidemiology / Q000209:etiology; D001656:Biliary Atresia / Q000145:classification / Q000453:epidemiology / Q000209:etiology*; D016022:Case-Control Studies; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D010641:Phenotype; D014481:United States / Q000453:epidemiology