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Rare disease
Longevity and Patau syndrome: what determines survival?
  1. Sherina Peroos1,
  2. Elizabeth Forsythe2,
  3. Jennifer Harriet Pugh1,
  4. Peter Arthur-Farraj1,
  5. 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.

https://doi.org/10.1136/bcr-06-2011-4381

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