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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Ghent nosology is a set of clinical, radiologic and genetic criteria used in diagnosis of Marfan's syndrome.