Etiology of esophageal atresia and tracheoesophageal fistula: "mind the gap".

ABSTRACT: Esophageal atresia and tracheoesophageal fistula (EA/TEF) are major congenital malformations affecting 1:3500 live births. Current research efforts are focused on understanding the etiology of these defects. We describe well-known animal models, human syndromes, and associations involving EA/TEF, indicating its etiologically heterogeneous nature. Recent advances in genotyping technology and in knowledge of human genetic variation will improve clinical counseling on etiologic factors. This review provides a clinical summary of environmental and genetic factors involved in EA/TEF.

SUBMITTER: de Jong EM 

PROVIDER: S-EPMC2874026 | biostudies-literature | 2010 Jun

REPOSITORIES: biostudies-literature