Article

Etiology of Esophageal Atresia and Tracheoesophageal Fistula: “Mind the Gap”

Department of Pediatric Surgery, Erasmus MC-Sophia Children's Hospital, PO Box 2060, 3000 CB, Rotterdam, The Netherlands.
Current Gastroenterology Reports 06/2010; 12(3):215-22. DOI: 10.1007/s11894-010-0108-1
Source: PubMed

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.

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