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BMJ Case Reports 2012; doi:10.1136/bcr-06-2011-4381
  • Rare disease

Longevity and Patau syndrome: what determines survival?

  1. Deborah Hodes2
  1. 1University College London, London, UK
  2. 2Department of Kentish Town Health Centre, University College London Hospital, London, UK
  1. Correspondence to Dr Sherina Peroos, s.peroos{at}doctors.org.uk

Summary

The authors report of an 8-year-old girl with non-mosaic Patau syndrome. The median life expectancy of Patau syndrome is 7–10 days, and 90% die in the first year of life. Survival is often attributed to mosaicism and the severity of associated malformations. We delineate the developing phenotype and review the literature discussing potential contributory factors to longevity.

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