Congenital gastrointestinal defects in Down syndrome: a report from the Atlanta and National Down Syndrome Projects

S B Freeman; C P Torfs; P A Romitti; M H Royle; C Druschel; C A Hobbs; S L Sherman

doi:10.1111/j.1399-0004.2008.01110.x

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Congenital gastrointestinal defects in Down syndrome: a report from the Atlanta and National Down Syndrome Projects

Journal article

Open access

Peer reviewed

Congenital gastrointestinal defects in Down syndrome: a report from the Atlanta and National Down Syndrome Projects

S B Freeman, C P Torfs, P A Romitti, M H Royle, C Druschel, C A Hobbs and S L Sherman

Clinical genetics, Vol.75(2), pp.180-184

02/2009

DOI: 10.1111/j.1399-0004.2008.01110.x

PMCID: PMC6034634

PMID: 19021635

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Abstract

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.

Down Syndrome - pathology

Abnormalities, Multiple - etiology

Duodenal Obstruction - etiology

United States

Humans

Infant

Male

Esophageal Atresia - etiology

Ethnic Groups

Hirschsprung Disease - etiology

Down Syndrome - complications

Adult

Female

Gastrointestinal Tract - abnormalities

Abnormalities, Multiple - genetics

Details

Title: Subtitle: Congenital gastrointestinal defects in Down syndrome: a report from the Atlanta and National Down Syndrome Projects
Creators: S B Freeman - Department of Human Genetics, Emory University, Atlanta, GA 30033, USA
C P Torfs
P A Romitti
M H Royle
C Druschel
C A Hobbs
S L Sherman
Resource Type: Journal article
Publication Details: Clinical genetics, Vol.75(2), pp.180-184
Publisher: Denmark
DOI: 10.1111/j.1399-0004.2008.01110.x
PMID: 19021635
PMCID: PMC6034634
ISSN: 0009-9163
eISSN: 1399-0004
Grant note: P01 HD024605 / NICHD NIH HHS R01 HD38979 / NICHD NIH HHS M01 RR000039 / NCRR NIH HHS P01 HD24605 / NICHD NIH HHS F32 HD046337 / NICHD NIH HHS M01 RR00039 / NCRR NIH HHS R01 HD038979 / NICHD NIH HHS
Language: English
Date published: 02/2009
Academic Unit: Epidemiology; Biostatistics
Record Identifier: 9983995163402771

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