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Pediatr Blood Cancer. 2012 Feb;58(2):167-72. doi: 10.1002/pbc.23358. Epub 2011 Oct 19.

Bleeding disorders in Noonan syndrome.

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  • 1Naval Medical Center San Diego, CA, USA. benjamin.briggs@med.navy.mil

Abstract

Noonan Syndrome (NS) is a common genetic disease with multiple organ defects including bleeding disorders, which was last reviewed in 1997. Since then significant information has been acquired regarding bleeding problems in NS, specifically on the underlying genetics. Associations between mutated genes and bleeding disorders are reviewed along with prevalence and underlying etiologies. Between 50-89% of NS patients will have a bleeding disorder and since a significant number will require surgery it is important to identify which ones are at risk prior to their procedure. Recommendations regarding screening for bleeding disorders and their treatment are discussed.

Copyright © 2011 Wiley Periodicals, Inc.

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