Tracheal agenesis with broncho-esophageal fistula in VACTERL / TACRD association.

Abstract

Tracheal agenesis (TA) is an extremely rare malformation. We report here autopsy findings in a case of TA with bronchoesophageal fistula of Floyd type III. The other malformations present included laryngeal atresia, Right lung hypolobulation, ventricular septal defect in membranous portion, bilateral cystic renal dysplasia, spleninculus, Meckel's diverticulum, and imperforate anus. The constellations of malformations present in our case have overlapping features with Vertebral anomalies, Anal atresia, Cardiovascular anomalies, Tracheo-esophageal fistula, Esophageal atresia, Renal anomalies, Limb anomalies and Tracheal atresia or laryngo tracheal atresia, Cardiac anomalies, Renal anomalies, Duodenal atresia association described previously in the literature.

• Authors: Suresh R S Mandrekar, Sangeeta Amoncar, R G W Pinto
• Journal: Indian journal of human genetics (Indian J Hum Genet) Vol. 19 Issue 1 Pg. 87-9 (Jan 2013) ISSN: 0971-6866 [Print] India
• PMID: 23901199 (Publication Type: Case Reports)