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, in...

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Detalles Bibliográficos
Autores principales: de Jong, Elisabeth M., Felix, Janine F., de Klein, Annelies, Tibboel, Dick
Formato: Texto
Lenguaje:English
Publicado: Current Science Inc. 2010
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2874026/
https://www.ncbi.nlm.nih.gov/pubmed/20425471
http://dx.doi.org/10.1007/s11894-010-0108-1
Descripción
Sumario: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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