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To determine the incidence of gastrointestinal (GI) abnormalities in infants with Down syndrome, investigators analyzed a large population-based sample of live-born infants with standard trisomy 21 who were identified from hospital records in six U.S. regions between 1989 and 2004.
In this ethnically diverse sample of 1892 infants with Down syndrome, 6.7% had some type of congenital GI structural defect. The defects included duodenal stenosis or atresia (3.9%), anal stenosis or atresia (1.0%), Hirschsprung disease (0.8%), esophageal atresia with or without tracheoesophageal fistula (0.4%), and pyloric stenosis (0.3%). Interestingly, GI defects were not significantly associated with sex, maternal age, ethnicity, origin of the extra chromosome…