Noonan syndrome: partial factor XI deficiency.

Abstract

Among the multiple extracardiac abnormalities seen in the Noonan syndrome, several authors have mentioned an unexplained bleeding tendency. In 1983 Kitchens and Alexander reported on a partial deficiency of coagulation factor XI in four patients with Noonan syndrome. We examined 9 patients with Noonan syndrome and 9 of their 18 parents (3 of them also had Noonan syndrome). Four Noonan patients were found to have a partial deficiency of factor XI (30-65%). The Noonan patients had a mean factor XI level of 67%, significantly lower than the normal parents (mean level of 109%). Our study suggests a relationship between Noonan syndrome and a partial deficiency of factor XI.

• Authors: M de Haan, J J vd Kamp, E Briët, J Dubbeldam
• Journal: American journal of medical genetics (Am J Med Genet) Vol. 29 Issue 2 Pg. 277-82 (Feb 1988) ISSN: 0148-7299 [Print] United States
• PMID: 3354599 (Publication Type: Journal Article)

Topics

• Blood Coagulation Disorders (complications)
• Factor XI Deficiency (complications)
• Hemostasis
• Humans
• Noonan Syndrome (blood)