Esophageal atresia and tracheoesophageal fistula (EA/TEF) are major congenitalmalformations 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.

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doi.org/10.1007/s11894-010-0108-1, hdl.handle.net/1765/28609
Current Gastroenterology Reports (Print)
Erasmus MC: University Medical Center Rotterdam

de Jong, E., Felix, J., de Klein, A., & Tibboel, D. (2010). Etiology of esophageal atresia and tracheoesophageal fistula: "Mind the gap". Current Gastroenterology Reports (Print) (Vol. 12, pp. 215–222). doi:10.1007/s11894-010-0108-1