Affiliations: Department of Genetics, Wroclaw Medical University, Wroclaw, Poland | Department of Intensive Care Therapy for Children, Wroclaw Medical University, Wroclaw, Poland | Institute of Molecular Techniques, Wroclaw Medical University, Wroclaw, Poland | Department of Radiology, Wroclaw Medical University, Wroclaw, Poland | Department of Pediatric Surgery and Urology, Wroclaw Medical University, Wroclaw, Poland
Note:  Corresponding author: Robert Smigiel, Wroclaw Medical University, Department of Genetics, PL 50-368 Wroclaw, Marcinkowskiego 1, Poland. Tel.: +48 71 784 12 56; Fax: +48 71 784 00 63; E-mail [email protected]
Abstract: 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.