Birth Defects: Overview


Birth defects are abnormalities in a baby present at birth that may by life‐threatening or disabling. They may occur singly or associated with another abnormality in a syndrome, and may be caused by a number of genetic and environmental factors.

Keywords: malformation; deformation; disruption; chromosome; gene

Further Reading

Jones KL (1997) Smith's Recognizable Patterns of Human Malformation, 5th edn. Philadelphia: WB Saunders.

Kalter H and Warkany J (1983) Congenital malformations – etiologic factors and their role in prevention. New England Journal of Medicine 308: 424–431 and 491–497. [Two parts]

McKusick's Online Mendelian Inheritance in Man (OMIM) []

Spranger J, Benirshke K, Hall JG et al. (1982) Errors of morphogenesis: concepts and terms. Journal of Pediatrics 100: 160–165.

Winter RM, Knowles SAS, Bieber FR and Baraitser M (1988) The Malformed Fetus and Still Birth, pp. 9–11. Chichester: John Wiley & Sons.

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Winter, Robin M(Apr 2001) Birth Defects: Overview. In: eLS. John Wiley & Sons Ltd, Chichester. [doi: 10.1038/npg.els.0002319]