AUTHOR=Trisno Stephen L. , Higano Nara S. , Kechele Dan , Nasr Talia , Chung Wendy , Zorn Aaron M. , Woods Jason C. , Wells James M. , Kingma Paul S. TITLE=Case Report: Esophageal Bronchus in a Neonate, With Image, Histological, and Molecular Analysis JOURNAL=Frontiers in Pediatrics VOLUME=9 YEAR=2021 URL=https://www.frontiersin.org/journals/pediatrics/articles/10.3389/fped.2021.707822 DOI=10.3389/fped.2021.707822 ISSN=2296-2360 ABSTRACT=

In this case report, we describe the clinical course of a neonate who presented initially with respiratory distress and later with choking during feeding. He was subsequently found to have an esophageal bronchus to the right upper lung lobe, a rare communicating bronchopulmonary foregut malformation. Histological and molecular analysis of the fistula and distal tissues revealed that the proximal epithelium from the esophageal bronchus has characteristics of both esophageal and respiratory epithelia. Using whole exome sequencing of the patient's and parent's DNA, we identified gene variants that are predicted to impact protein function and thus could potentially contribute to the phenotype. These will be the subject of future functional analysis.