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However, concerns with the current nosology are that some of the diagnostic criteria have not been sufficiently validated, are not applicable in children or necessitate expensive and specialised investigations. The recognition of variable clinical expression and the recently extended differential diagnosis further confound accurate diagnostic decision making. Moreover, the diagnosis of MFS\u2014whether or not established correctly\u2014can be stigmatising, hamper career aspirations, restrict life insurance opportunities, and cause psychosocial burden. An international expert panel has established a revised Ghent nosology, which puts more weight on the cardiovascular manifestations and in which aortic root aneurysm and ectopia lentis are the cardinal clinical features. In the absence of any family history, the presence of these two manifestations is sufficient for the unequivocal diagnosis of MFS. In absence of either of these two, the presence of a bonafide <jats:italic>FBN1<\/jats:italic> mutation or a combination of systemic manifestations is required. For the latter a new scoring system has been designed. In this revised nosology, <jats:italic>FBN1<\/jats:italic> testing, although not mandatory, has greater weight in the diagnostic assessment. Special considerations are given to the diagnosis of MFS in children and alternative diagnoses in adults. We anticipate that these new guidelines may delay a definitive diagnosis of MFS but will decrease the risk of premature or misdiagnosis and facilitate worldwide discussion of risk and follow-up\/management guidelines.<\/jats:p>","DOI":"10.1136\/jmg.2009.072785","type":"journal-article","created":{"date-parts":[[2010,6,30]],"date-time":"2010-06-30T04:57:57Z","timestamp":1277873877000},"page":"476-485","source":"Crossref","is-referenced-by-count":1838,"title":["The revised Ghent nosology for the Marfan syndrome: Table 1"],"prefix":"10.1136","volume":"47","author":[{"given":"Bart L","family":"Loeys","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Harry C","family":"Dietz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alan C","family":"Braverman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bert L","family":"Callewaert","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Julie","family":"De Backer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Richard B","family":"Devereux","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yvonne","family":"Hilhorst-Hofstee","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Guillaume","family":"Jondeau","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laurence","family":"Faivre","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dianna M","family":"Milewicz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Reed E","family":"Pyeritz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paul D","family":"Sponseller","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paul","family":"Wordsworth","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anne M","family":"De Paepe","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[2010,6,30]]},"reference":[{"key":"2025101723172548000_47.7.476.1","first-page":"220","article-title":"Un cas de deformation congenitale des quatre membres plus prononcee aux extremites characterisee par l'allongment des os avec un certain degre d'amincissement","volume":"13","author":"Marfan","year":"1896","journal-title":"Bull Mem Soc Med Hop Paris"},{"key":"2025101723172548000_47.7.476.2","doi-asserted-by":"crossref","first-page":"321","DOI":"10.1161\/01.CIR.11.3.321","article-title":"The cardiovascular aspects of Marfan's syndrome: a heritable disorder of connective tissue","volume":"11","author":"Mc Kusick","year":"1955","journal-title":"Circulation"},{"key":"2025101723172548000_47.7.476.3","doi-asserted-by":"crossref","unstructured":"Mc Kusick VA . 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