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 language | English |
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Pages (from-to) | 683-693 |
Number of pages | 11 |
Journal | American Journal of Medical Genetics |
Volume | 45 |
Issue number | 6 |
DOIs | |
State | Published - 1 Jan 1993 |
Externally published | Yes |
Keywords
- associated anomalies
- extrahepatic biliary atresia
- laterality sequence
- polysplenia
- situs inversus
ASJC Scopus subject areas
- Genetics(clinical)