Etiology of esophageal atresia and tracheoesophageal fistula: "mind the gap".
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.
de Jong
Elisabeth M
EM
Department of Pediatric Surgery, Erasmus MC-Sophia Children's Hospital, PO Box 2060, 3000 CB, Rotterdam, The Netherlands. e.m.dejong@erasmusmc.nl
Felix
Janine F
JF
de Klein
Annelies
A
Tibboel
Dick
D
D000015:Abnormalities, Multiple / Q000209:etiology / Q000235:genetics; D002869:Chromosome Aberrations; D004777:Environment; D004933:Esophageal Atresia / Q000209:etiology* / Q000235:genetics; D030342:Genetic Diseases, Inborn / Q000235:genetics*; D005838:Genotype; D006801:Humans; D009154:Mutation; D010641:Phenotype; D013577:Syndrome; D014138:Tracheoesophageal Fistula / Q000209:etiology* / Q000235:genetics