Article
[Patients with aneurysms and osteoarthritis: Marfan syndrome ruled out, so what is it?].
Nederlands tijdschrift voor geneeskunde - 1 Jan 2013
van der Linde Denise, van de Laar Ingrid M B H, Moelker Adriaan, Wessels Marja W, Bertoli-Avella Aida M, Roos-Hesselink Jolien W
Abstract excerpt
We describe three cases where Marfan syndrome was suspected, but genetic tests were negative. Two patients, a 38-year-old male and a 45-year-old female, were asymptomatic, but were referred to a clinical geneticist because multiple family members had died of aortic dissections at a young age. The third patient, a 55-year-old female, has been monitored for the past 26 years due to mild aortic dilatation and mitral...
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