Down syndrome and associated congenital malformations

  • B. L. Shapiro
Part of the Journal of Neural Transmission Supplement 67 book series (NEURAL SUPPL, volume 67)


Congenital malformations are many times more common in individuals with Down syndrome (DS) than in the general population. The scope of these defects is as broad in DS as it is in the general population. A positive correlation exists between the prevalence of these defects in both groups, but the incidence of each is many times greater in DS. Two examples, Brushfield spots and anorectal abnormalities are noted in which racial/ethnic prevalence differences exist. The incidence of each condition in the subpopulation with DS is proportional to but many times greater than the incidence of that condition in the general population from which the subpopulation with DS was derived. Findings presented in this review support the notion that the autosomal trisomic state amplifies expression of exposure to teratogens.


Down Syndrome Congenital Malformation Spina Bifida Neural Tube Defect Anorectal Malformation 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.


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  1. Catalano RA (1990) Down syndrome. Sury Ophthalmol 34: 385–398CrossRefGoogle Scholar
  2. Chervenak FA, Berkowitz RL, Tortora M, Hobbins JC (1985) The management of fetal hydrocephalus. Am J Obstet Gynecol 151: 933–942PubMedGoogle Scholar
  3. Dombrowski MP, Berry SM, Isada NB, Jones TB, Evans MI (1993) Abnormal second trimester ultrasounds: an indication for karyotype. Fet Diag Ther 8: 10–14CrossRefGoogle Scholar
  4. Freeman SB, Taft LF, Dooley KJ, Allran K, Sherman SL, Hassold TJ, Khoury MJ, Saker, DM (1999) Population-based study of congenital heart defects in Down syndrome. Am J Med Genet 87: 195–196CrossRefGoogle Scholar
  5. Jackson JF, North ER 3d, Thomas JG (1976) Clinical diagnosis of Down’s syndrome. Clin Genet 9: 483–487PubMedCrossRefGoogle Scholar
  6. Kallen B, Mastroiacovo P, Robert E (1996) Major congenital malformations in Down syndrome. Am J Med Genet 65: 160–166PubMedCrossRefGoogle Scholar
  7. Khoury MJ, Erickson JD (1992) Can maternal risk factors influence the presence of major birth defects in infants with Down syndrome? Am J Med Genet 43: 1016–1022PubMedCrossRefGoogle Scholar
  8. Kim JH, Hwang J-M, Kim HJ, Yu YS (2002) Characteristic ocular findings in Asian children with Down syndrome. Eye 16: 710–714PubMedCrossRefGoogle Scholar
  9. Kwong KL, Wong G (1966) Neurodevelopment profile of Down syndrome in Chinese children. J Paediatr Child Health 32: 153–157CrossRefGoogle Scholar
  10. Lang DJ, Van Dyke DC, Heide F, Lowe PL (1987) Hypospadias and urethral abnormalities in Down Syndrome. Clin Pediat 26: 40–42PubMedCrossRefGoogle Scholar
  11. Lee LG, Jackson JF (1972) Diagnosis of Down’s syndrome: clinical vs. laboratory. Clin Pediat 11: 353–356PubMedCrossRefGoogle Scholar
  12. Mautner H, Barnes A, Curtis G (1950) Abnormal findings in the spine in mongoloids. Am J Ment Defic 55: 105–107PubMedGoogle Scholar
  13. Nicolaides KH, Berry S, Snijders RJ, Thorpe-Beeston JG, Gosden C (1966) Fetal lateral cerebral ventriculomegaly: associated malformation and chromosomal defects. Fet Diag Ther 5: 5–14CrossRefGoogle Scholar
  14. Nicolaides KH, Salvesen DR, Snijders RJ, Gosden C (1993) Fetal facial defects: associated malformations and chromosomal abnormalities. Fet Diag Ther 8: 1–9CrossRefGoogle Scholar
  15. Shapiro BL (1975) Amplified developmental instability in Down’s syndrome. Ann Hum Genet Lond 38: 429–437CrossRefGoogle Scholar
  16. Shapiro BL (1983) Down syndrome — a disruption of homeostasis. Am J Med Genet 14: 241–269PubMedCrossRefGoogle Scholar
  17. Shapiro BL (1994) The environmental basis of the Down syndrome phenotype. Dev Med Child Neurol 36: 84–90PubMedCrossRefGoogle Scholar
  18. Shapiro BL (1997) Whither Down syndrome critical regions? Hum Genet 99: 421–423PubMedCrossRefGoogle Scholar
  19. Shapiro BL (1999) The Down syndrome critical region. J Neural Transm [Suppl] 57: 41–60Google Scholar
  20. Smith GF, Berg JM (1976) Down’s anomaly, 2nd edn. Churchill Livingstone, Edinburgh London New York, p 36Google Scholar
  21. Torfs CP, Christianson RE (1998) Anomalies in Down syndrome individuals in a large population-based registry. Am J Med Genet 77: 431–438PubMedCrossRefGoogle Scholar
  22. Torfs CP, Christianson RE (1999) Maternal risk factors and major associated defects in infants with Down syndrome. Epidemiology 10: 264–270PubMedCrossRefGoogle Scholar
  23. Torfs CP, Honore LH, Curry CJR (1997) Is there an association of Down-syndrome and omphalocele? Am J Med Genet 73: 400–403PubMedCrossRefGoogle Scholar
  24. Zlotogora J (1992) Relation between the prevalence of anorectal malformations in children with Down syndrome and their prevalence in the general population. Am J Med Genet 44: 850CrossRefGoogle Scholar
  25. Zlotogora J, Abu-Dalu K, Lernau O, Sagi M, Voss R, Cohen T (1989) Anorectal malformations and Down syndrome. Am J Med Genet 34: 330–331PubMedCrossRefGoogle Scholar

Copyright information

© Springer-Verlag 2003

Authors and Affiliations

  • B. L. Shapiro
    • 1
    • 2
  1. 1.Department of Oral Sciences and Institute of Human GeneticsUniversity of MinnesotaMinneapolisUSA
  2. 2.Department of Oral Sciences and Institute of Human Genetics17-220 Moos TowerMinneapolisUSA

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