Esophageal atresia and anal atresia in a newborn with heterotaxia combined with other congenital defects.
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.
Department of Genetics, Wroclaw Medical University, Wroclaw, Poland.
Robert
R
Smigiel
Department of Genetics, Wroclaw Medical University, Wroclaw, Poland.
Blazej
B
Misiak
Department of Intensive Care Therapy for Children, Wroclaw Medical University, Wroclaw, Poland.
Waldemar
W
Golebiowski
Institute of Molecular Techniques, Wroclaw Medical University, Wroclaw, Poland.
Arleta
A
Lebioda
Department of Radiology, Wroclaw Medical University, Wroclaw, Poland.
Urszula
U
Dorobisz
Department of Intensive Care Therapy for Children, Wroclaw Medical University, Wroclaw, Poland.
Marzena
M
Zielinska
Department of Pediatric Surgery and Urology, Wroclaw Medical University, Wroclaw, Poland.
Dariusz
D
Patkowski
Heterotaxia; ZIC3 gene; anal atresia; esophageal atresia; situs inversus; tracheoesophageal fistula