PMID: 11915435Mar 28, 2002Paper

Oesophageal atresia and Down syndrome

Down's Syndrome, Research and Practice : the Journal of the Sarah Duffen Centre
Sebastiano BiancaGiuseppe Ettore

Abstract

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.

Citations

Jul 3, 2013·Archives of Disease in Childhood·Rachel Watts, H Vyas
May 27, 2005·Current Opinion in Genetics & Development·Han G Brunner, Hans van Bokhoven
Apr 26, 2005·Archives of Medical Research·Sebastiano Bianca, M Bianca
Jul 16, 2014·European Journal of Medical Genetics·Jacopo Celli
May 5, 2011·European Journal of Medical Genetics·Stanislas FaguerStéphane Decramer
Apr 6, 2019·Journal of Intellectual Disability Research : JIDR·M A AnilS Narayanan
Dec 1, 2019·Archives de pédiatrie : organe officiel de la Sociéte française de pédiatrie·A RavelA Megarbane
Dec 17, 2004·Birth Defects Research. Part A, Clinical and Molecular Teratology·Marieke van DoorenClaudine Torfs

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