Ghent nosology

Ghent nosology

Formal criteria for the diagnosis of Marfan syndrome, including cardiovascular (aortic root aneurysm), musculoskeletal (pectus excavatum), and ophthalmologic findings (ectopia lentis). Definitive diagnosis of Marfan syndrome is made by combining physical findings with detection of a point mutation in one of the fibrillin genes.
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The Ghent nosology in 1996 (Ghent-1), which was a revision of the Berlin criteria, used the discovered FBN1 mutations as a component in the diagnostic criteria, and subsequently, the revised Ghent nosology in 2010 (Ghent-2), highlighted the FBN1 mutation, aortic dilatation and "ectopia lentis" in the diagnosis of this entity (3-5).
Ghent nosology is a set of clinical, radiologic and genetic criteria used in diagnosis of Marfan's syndrome.
The revised Ghent nosology addresses these shortcomings (J.