The investigators propose a preliminary study performing exome sequencing on samples from patients and their biologically related family members with tracheal and esophageal birth defects (TED). The purpose of this study is to determine if patients diagnosed with TED and similar disorders carry distinct mutations that lead to predisposition. The investigators will use advanced, non-invasive magnetic resonance imaging (MRI) techniques to assess tracheal esophageal, lung, and cardiac morphology and function in Neonatal Intensive Care Unit (NICU) patients. MRI techniques is done exclusively if patient is clinically treated at primary study location and if patient has not yet had their initial esophageal repair.
Tracheoesophageal Fistula, Esophageal Atresia, Laryngeal Cleft, Tracheal Stenosis, Bronchial Stenosis, Esophageal Bronchus, Congenital High Airway Obstruction Syndrome
The investigators propose a preliminary study performing exome sequencing on samples from patients and their biologically related family members with tracheal and esophageal birth defects (TED). The purpose of this study is to determine if patients diagnosed with TED and similar disorders carry distinct mutations that lead to predisposition. The investigators will use advanced, non-invasive magnetic resonance imaging (MRI) techniques to assess tracheal esophageal, lung, and cardiac morphology and function in Neonatal Intensive Care Unit (NICU) patients. MRI techniques is done exclusively if patient is clinically treated at primary study location and if patient has not yet had their initial esophageal repair.
Phenotypic and Genetic Assessment of Tracheal and Esophageal Birth Defects in Patients
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Cincinnati Children's Hospital, Cincinnati, Ohio, United States, 45229
Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.
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ALL
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Children's Hospital Medical Center, Cincinnati,
Paul Kingma, MD, PhD, PRINCIPAL_INVESTIGATOR, Children's Hospital Medical Center, Cincinnati
2026-01