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J Pediatr Genet 2012; 01(01): 055-058
DOI: 10.3233/PGE-2012-010
Georg Thieme Verlag KG Stuttgart – New York

Esophageal atresia and anal atresia in a newborn with heterotaxia combined with other congenital defects

Robert Smigiel
a   Department of Genetics, Wroclaw Medical University, Wroclaw, Poland
,
Blazej Misiak
a   Department of Genetics, Wroclaw Medical University, Wroclaw, Poland
,
Waldemar Golebiowski
b   Department of Intensive Care Therapy for Children, Wroclaw Medical University, Wroclaw, Poland
,
Arleta Lebioda
c   Institute of Molecular Techniques, Wroclaw Medical University, Wroclaw, Poland
,
Urszula Dorobisz
d   Department of Radiology, Wroclaw Medical University, Wroclaw, Poland
,
Marzena Zielinska
b   Department of Intensive Care Therapy for Children, Wroclaw Medical University, Wroclaw, Poland
,
Dariusz Patkowski
e   Department of Pediatric Surgery and Urology, Wroclaw Medical University, Wroclaw, Poland
› Author Affiliations
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Publication History

07 July 2010

02 December 2010

Publication Date:
27 July 2015 (online)

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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.

Keywords

Heterotaxia - situs inversus - esophageal atresia - tracheoesophageal fistula - anal atresia - ZIC3 gene