2. Academic Validation
  3. Longevity and Patau syndrome: what determines survival?

Longevity and Patau syndrome: what determines survival?

  • BMJ Case Rep. 2012 Dec 6;2012:bcr0620114381. doi: 10.1136/bcr-06-2011-4381.
Sherina Peroos 1,  Elizabeth Forsythe,  Jennifer Harriet Pugh,  Peter Arthur-Farraj,  Deborah Hodes
Affiliations

Affiliation

  • 1 University College London, London, UK. s.peroos@doctors.org.uk
PMID: 23220825 DOI: 10.1136/bcr-06-2011-4381
Abstract

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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