期刊
CLINICAL GENETICS
卷 75, 期 2, 页码 180-184出版社
WILEY
DOI: 10.1111/j.1399-0004.2008.01110.x
关键词
anal atresia; Down syndrome; duodenal atresia; esophageal atresia; Hirschsprung disease; trisomy 21
资金
- General Clinical Research Center at Emory University [NIH/NCRR M01 RR00039]
- [NIH R01 HD38979]
- [NIH P01 HD24605]
- [F32 HD046337]
Freeman SB, Torfs CP, Romitti PA, Royle MH, Druschel C, Hobbs CA, Sherman SL. Congenital gastrointestinal defects in Down syndrome: a report from the Atlanta and National Down Syndrome Projects.Clin Genet 2009: 75: 180-184. (C) Blackwell Munksgaard, 2008 We report Down syndrome (DS)-associated congenital gastrointestinal (GI) defects identified during a 15 year, population-based study of the etiology and phenotypic consequences of trisomy 21. Between 1989 and 2004, six sites collected DNA, clinical and epidemiological information on live-born infants with standard trisomy 21 and their parents. We used chi-squared test and logistic regression to explore relationships between congenital GI defects and infant sex, race, maternal age, origin of the extra chromosome 21, and presence of a congenital heart defect. Congenital GI defects were present in 6.7% of 1892 eligible infants in this large, ethnically diverse, population-based study of DS. Defects included esophageal atresia/tracheoesophageal fistula (0.4%), pyloric stenosis (0.3%), duodenal stenosis/atresia (3.9%), Hirschsprung disease (0.8%), and anal stenosis/atresia (1.0%). We found no statistically significant associations between these defects and the factors examined. Although not significant, esophageal atresia was observed more often in infants of younger mothers and Hispanics, Hirschsprung disease was more frequent in males and in infants of younger mothers and blacks, and anal stenosis/atresia was found more often among females and Asians.
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