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Oesophageal atresia with a terminal deletion of chromosome 2q37.1

We herein report the case of a newborn girl with oesophageal atresia associated with cardiac and gastrointestinal anomalies, including patent ductus arteriosus, tracheomalacia, and gastro-oesophageal reflux with hiatus hernia. In addition, she had a terminal deletion of the long arm of chromosome 2, with a breakpoint of 2q37.1. The patient died following a cardiac arrest at 90 days of age. No cause of death was identified at autopsy.