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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(9) Clinical diagnosis depends on a combination of major and minor signs as defined in revised 1996 Ghent nosology. (7) The existence of ectopic lentis is considered a major criteria for the diagnosis of Marfan syndrome in this nosology, which unequivocally diagnose or excludes Marfan in 86% of cases.
Although the incidence of EL varies widely in prior studies, it is the major diagnostic criterion of the 2010 Revised Ghent Nosology [15].
Braverman et al., "The revised Ghent nosology for the Marfan syndrome," Journal of Medical Genetics, vol.
Pathogenic variants are identified in 72-93% of individuals fulfilling a clinical diagnosis of MFS based on Ghent nosology [12, 13].
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 new criteria update the 1996 Ghent nosology, which comprise a stringent set of major and minor manifestations in multiple organ systems.