
Esophageal atresia and anal atresia in a newborn with heterotaxia combined with other congenital defects
Author(s) -
Robert Śmigiel,
Błażej Misiak,
W Gołebiowski,
Arleta Lebioda,
Urszula Zaleska-Dorobisz,
Marzena Zielińska,
Dariusz Patkowski
Publication year - 2015
Publication title -
journal of pediatric genetics
Language(s) - English
Resource type - Journals
eISSN - 2146-4596
pISSN - 2146-460X
DOI - 10.3233/pge-2012-010
Subject(s) - medicine , atresia , dextrocardia , anal atresia , tracheoesophageal fistula , cardiology , etiology
Heterotaxia (HTX) is a heterogeneous group of laterality defects characterized by abnormal discordance of asymmetric thoracic and abdominal organs. Esophageal anomalies occur rarely in HTX cases although additional defects associated with esophageal atresia are common. We report on a rare case of a neonate with HTX and multiple congenital malformations as well as specific facial dysmorphism, corresponding only to a few cases described in literature. Clinical examination of the proband revealed esophageal atresia with distal tracheoesophageal fistula, anal atresia, abdominal situs inversus, dextrocardia with complex congenital heart defect and left lung agenesis. A complex genetic analysis revealed no genetic abnormalities. Despite extensive diagnostic procedures, the cause of the laterality sequence disruption remains unclear, indicating its multifactorial etiology.