Oesophageal atresia and Down syndrome

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 mo...

Oesophageal atresia

Oesophageal atresia (OA) encompasses a group of congenital anomalies comprising of an interruption of the continuity of the oesophagus with or without a persistent communication with the trachea. In 86% of cases there is a distal tracheooesophageal fistula, in 7% there is no fistulous connection, while in 4% there is a tracheooesophageal fistula without atresia. OA occurs in 1 in 2500 live birt...

Bilateral pulmonary agenesis, oesophageal atresia, and the first arch syndrome.

Absence of both lungs is extremely rare; there appear to be only four recorded cases (Claireaux and Ferreira, 1958 ; Tuynman and Gardner, 1952; Allan and Affelbach, 1925 ; Schmit, 1893). Oesophageal atresia has a frequency of about 1: 3,500 births and the first arch syndrome is uncommon. The occurrence of all three of these conditions in a liveborn infant has not previously been recorded and it...

Oesophageal Atresia with Double Tracheo-oesophageal Fistula.

Microdeletion 22q11 and oesophageal atresia.

Oesophageal atresia (OA) is a congenital defect associated with additional malformations in 30-70% of the cases. In particular, OA is a component of the VACTERL association. Since some major features of the VACTERL association, including conotruncal heart defect, radial aplasia, and anal atresia, have been found in patients with microdeletion 22q11.2 (del(22q11.2)), we have screened for del(22q...