Researchers reported that esophageal atresia in patients was caused either by deletions in EFTUD2 or novel heterozygous loss-of-function mutations in EFTUD2. These patients presented with severe micrognathia, upper airway obstruction, esophageal atresia, tracheoesophageal fistula and choanal atresia (Table II) (33,35,44,80). This evidence concerns the gene EFTUD2 and choanal atresia.