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

Clinical Genetics

Volumn 75, Issue 2, 2009, Pages 180-184

  Freeman, S B ^a   Torfs, C P ^b   Romitti, P A ^c   Royle, M H ^d   Druschel, C ^e   Hobbs, C A ^f   Sherman, S L ^a  

^a EMORY UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b PUBLIC HEALTH INSTITUTE   (United States)

^c UNIVERSITY OF IOWA   (United States)

^d NEW JERSEY DEPARTMENT OF HEALTH AND SENIOR SERVICES   (United States)

^e NEW YORK STATE DEPARTMENT OF HEALTH   (United States)

^f UNIVERSITY OF ARKANSAS FOR MEDICAL SCIENCES   (United States)

Author keywords

Anal atresia; Down syndrome; Duodenal atresia; Esophageal atresia; Hirschsprung disease; Trisomy 21

Indexed keywords

DNA;

ANUS ATRESIA; ARTICLE; ASIAN; CAUCASIAN; CHROMOSOME 21; CONGENITAL HEART DISEASE; CONTROLLED STUDY; DISEASE ASSOCIATION; DNA DETERMINATION; DOWN SYNDROME; DUODENUM ATRESIA; DUODENUM STENOSIS; EPIDEMIOLOGICAL DATA; ESOPHAGUS ATRESIA; FEMALE; GASTROINTESTINAL DISEASE; HIRSCHSPRUNG DISEASE; HISPANIC; HUMAN; INFANT; MAJOR CLINICAL STUDY; MALE; MATERNAL AGE; NEGRO; PHENOTYPE; POPULATION RESEARCH; PRIORITY JOURNAL; PYLORUS STENOSIS; RACE DIFFERENCE; SEX DIFFERENCE; TRACHEOESOPHAGEAL FISTULA; TRISOMY 21; UNITED STATES;

ABNORMALITIES, MULTIPLE; ADULT; DOWN SYNDROME; DUODENAL OBSTRUCTION; ESOPHAGEAL ATRESIA; ETHNIC GROUPS; FEMALE; GASTROINTESTINAL TRACT; HIRSCHSPRUNG DISEASE; HUMANS; INFANT; MALE; UNITED STATES;

FISTULA;

EID: 58849085106     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2008.01110.x     Document Type: Article

References (36)

1. Freeman SB, Bean LH, Allen EG et al. Ethnicity, sex, and the incidence of congenital heart defects: A report from the National Down Syndrome Project. Genet Med 2008: 10: 173-180.
2. Fabia J, Drolette M. Malformations and leukemia in children with Down's syndrome. Pediatrics 1970: 45: 60-70.
3. Frid C, Drott P, Lundell B et al. Mortality in Down's syndrome in relation to congenital malformations. J Intellect Disabil Res 1999: 43 (Pt 3): 234-241.
4. Kallen B, Mastroiacovo P, Robert E. Major congenital malformations in Down syndrome. Am J Med Genet 1996: 65: 160-166.
5. Stoll C, Alembik Y, Dott B et al. Study of Down syndrome in 238,942 consecutive births. Ann Genet 1998: 41: 44-51.
6. Torfs CP, Christianson RE. Anomalies in Down syndrome individuals in a large population-based registry. Am J Med Genet 1998: 77: 431-438.
7. Freeman SB, Taft LF, Dooley KJ et al. Population-based study of congenital heart defects in Down syndrome [see comment]. Am J Med Genet 1998: 80: 213-217.
8. Freeman SB, Allen EG, Oxford-Wright CL et al. The National Down Syndrome Project: Design and implementation. Public Health Rep 2007: 122: 62-72.
9. National Birth Defects Prevention Network (NBDPN) 2004. State birth defects surveillance program directory. Birth Defects Res A Clin Mol Teratol 2004: 70: 609-676.
10. Ferencz C, Neill CA, Boughman JA et al. Congenital cardiovascular malformations associated with chromosome abnormalities: An epidemiologic study. J Pediatr 1989: 114: 79-86.
11. Khoury MJ, Erickson JD. Can maternal risk factors influence the presence of major birth defects in infants with Down syndrome? Am J Med Genet 1992: 43: 1016-1022.
12. Goyal A, Jones MO, Couriel JM et al. Oesophageal atresia and tracheo-oesophageal fistula. Arch Dis Child Fetal Neonatal Ed 2006: 91: F381-F384.
13. Moore KL, Persaud TVN, Shiota K. Color atlas of clinical embryology. Philadelphia, PA: W.B. Saunders Company, 1994.
14. Holschneider AM, Puri P, eds. Hirschsprung's disease and allied disorders. Amsterdam: Harwood Academic, 2000.
15. Dalla Vecchia LK, Grosfeld JL, West KW et al. Intestinal atresia and stenosis: A 25-year experience with 277 cases. Arch Surg 1998: 133: 490-496; discussion 496-497.
16. Fonkalsrud EW, DeLorimier AA, Hays DM. Congenital atresia and stenosis of the duodenum. A review compiled from the members of the Surgical Section of the American Academy of Pediatrics. Pediatrics 1969: 43: 79-83.
17. Grosfeld JL, Rescorla FJ. Duodenal atresia and stenosis: Reassessment of treatment and outcome based on antenatal diagnosis, pathologic variance, and long-term follow-up. World J Surg 1993: 17: 301-309.
18. Kamisawa T, Yuyang T, Egawa N et al. A new embryologic hypothesis of annular pancreas. Hepatogastroenterology 2001: 48: 277-278.
19. Kays DW. Surgical conditions of the neonatal intestinal tract. Clin Perinatol 1996: 23: 353-375.
20. Sencan A, Mir E, Gunsar C et al. Symptomatic annular pancreas in newborns. Med Sci Monit 2002: 8: CR434-CR437.
21. Badner JA, Sieber WK, Garver KL et al. A genetic study of Hirschsprung disease. Am J Hum Genet 1990: 46: 568-580.
22. Brown RA, Cywes S. Disorders and congenital malformations associated with Hirschsprung's disease. In: Holschneider A, Puri P, eds. Hirschsrung's disease and allied disorders. Amsterdam: Harwood, 2000: 137-145.
23. Goldberg EL. An epidemiological study of Hirschsprung's disease. Int J Epidemiol 1984: 13: 479-485.
24. Russell MB, Russell CA, Niebuhr E. An epidemiological study of Hirschsprung's disease and additional anomalies. Acta Paediatrica 1994: 83: 68-71.
25. Godbole K. The many faces of Hirschsprung's disease. Indian Pediatrics 2004: 41: 1115-1123.
26. Torfs CP. The epidemiology of Hirschsprung disease in a large multiracial population. Teratology 1996: 53: 93.
27. Torfs CP, Christianson RE. Maternal risk factors and major associated defects in infants with Down syndrome. Epidemiology 1999: 10: 264-270.
28. Al-Awadi SA, Farag TI, Naguib KK et al. Intestinal malformations and Down's syndrome in Arabs. J R Soc Med 1987: 80: 61-62.
29. Zlotogora J, Abu-Dalu K, Lernau O et al. Anorectal malformations and Down syndrome. Am J Med Genet 1989: 34: 330-331.
30. Stoll C, Alembik Y, Dott B et al. Evaluation of prenatal diagnosis of congenital gastro-intestinal atresias. Eur J Epidemiol 1996: 12: 611-616.
31. Phelps S, Fisher R, Partington A et al. Prenatal ultrasound diagnosis of gastrointestinal malformations. J Pediatr Surg 1997: 32: 438-440.
32. Haeusler MC, Berghold A, Stoll C et al. Prenatal ultrasonographic detection of gastrointestinal obstruction: Results from 18 European congenital anomaly registries. Prenat Diagn 2002: 22: 616-623.
33. Corteville JE, Gray DL, Langer JC. Bowel abnormalities in the fetus-correlation of prenatal ultrasonographic findings with outcome. Am J Obstet Gynecol 1996: 175: 724-729.
34. Khoury MJ, Erickson JD. Improved ascertainment of cardiovascular malformations in infants with Down's syndrome, Atlanta, 1968 through 1989. Implications for the interpretation of increasing rates of cardiovascular malformations in surveillance systems. Am J Epidemiol 1992: 136: 1457-1464.
35. Patterson D. Genetic mechanisms involved in the phenotype of Down syndrome. Ment Retard Dev Disabil Res Rev 2007: 13: 199-206.
36. Pritchard M, Reeves RH, Dierssen M et al. Down syndrome and the genes of human chromosome 21: Current knowledge and future potentials. Report on the Expert workshop on the biology of chromosome 21 genes: Towards gene-phenotype correlations in Down syndrome. Washington D.C., September 28-October 1, 2007 Cytogenet Genome Res 2008: 121: 67-77.