Oesophageal atresia and Down syndrome

Infants with Down syndrome are known to have a high frequency of associated birth defects and some authors have suggested an association between Down syndrome and oesophageal atresia. We evaluated data from the Sicilian Registry of Congenital Malformations. Our finding of an incidence of 0.9% of oesophageal atresia in children with Down syndrome is more than 30 times higher than expected and more than reported in other studies where the association was present in 0.5% of cases. Our results confirm that the relationship between Down syndrome and oesophageal atresia is a non random association and the observation of this association in several populations with different genetic backgrounds allows us to conclude that a causal relationship may exist between Down syndrome and oesophageal atresia.