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Case Reports
. 2012 Dec 6:2012:bcr0620114381.
doi: 10.1136/bcr-06-2011-4381.

Longevity and Patau syndrome: what determines survival?

Sherina Peroos  1 , Elizabeth Forsythe, Jennifer Harriet Pugh, Peter Arthur-Farraj, Deborah Hodes
Affiliations
Case Reports

Longevity and Patau syndrome: what determines survival?

Sherina Peroos et al. BMJ Case Rep. .

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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Figures

Figure 1
Figure 1
Photograph of the patient at 6 years and 5 months. Front profile photograph showing dysmorphic features consistent with Patau syndrome including prominent glabellae, orbital hypertelorism, low-set ears and microphthalmia.
Figure 2
Figure 2
Photograph of the patient at 6 years and 5 months. Photograph reveals a postaxial accessory digit on the left foot.
Figure 3
Figure 3
Photograph of the patient at 6 years and 5 months. Photograph reveals a postaxial accessory digit on both hands.
See this image and copyright information in PMC

References

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