Article
The new Ghent criteria for Marfan syndrome: what do they change?
Clinical genetics - 1 May 2012
Faivre L, Collod-Beroud G, Adès L, Arbustini E, Child A, Callewaert B L, Loeys B, Binquet C, Gautier E, Mayer K, Arslan-Kirchner M, Grasso M, Beroud C, Hamroun D, Bonithon-Kopp C, Plauchu H, Robinson P N, De Backer J, Coucke P, Francke U, Bouchot O, Wolf J E, Stheneur C, Hanna N, Detaint D, De Paepe A, Boileau C, Jondeau G
Abstract excerpt
The diagnosis of Marfan syndrome (MFS) is challenging and international criteria have been proposed. The 1996 Ghent criteria were adopted worldwide, but new diagnostic criteria for MFS were released in 2010, giving more weight to aortic root aneurysm and ectopia lentis. We aimed to compare the diagnosis reached by applying this new nosology vs the Ghent nosology in a well-known series of 1009 probands defined by...
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