Extrahepatic biliary atresia and associated anomalies: Etiologic heterogeneity suggested by distinctive patterns of associations

R. Carmi, C. A. Magee, C. A. Neill, F. M. Karrer

Research output: Contribution to journalArticlepeer-review

103 Scopus citations

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.

Original languageEnglish
Pages (from-to)683-693
Number of pages11
JournalAmerican Journal of Medical Genetics
Volume45
Issue number6
DOIs
StatePublished - 1 Jan 1993
Externally publishedYes

Keywords

  • associated anomalies
  • extrahepatic biliary atresia
  • laterality sequence
  • polysplenia
  • situs inversus

ASJC Scopus subject areas

  • Genetics(clinical)

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