Article Text
Rare disease
Longevity and Patau syndrome: what determines survival?
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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2012 BMJ Publishing Group Ltd