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BMJ Case Rep. 2012 Dec 6;2012. pii: bcr0620114381. doi: 10.1136/bcr-06-2011-4381.

Longevity and Patau syndrome: what determines survival?

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1
University College London, London, UK. s.peroos@doctors.org.uk

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.

PMID:
23220825
PMCID:
PMC4543265
DOI:
10.1136/bcr-06-2011-4381
[Indexed for MEDLINE]
Free PMC Article
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