Marfan syndrome (MFS) is a heritable connective tissue disorder primarily involving the ocular, skeletal and the cardiovascular system.
1 The diagnosis is made according to the Ghent nosology (table 1).
1 Typical characteristics of MFS are dolichostenomelia (thin body habitus and long extremities), ectopia lentis (lens (sub-)luxation), pectus carinatum/excavatum, and aortic root dilatation.
1,2 There is, however, extensive variability in the phenotype of MFS patients, both between and within affected families.
3-5 The prevalence of MFS is relatively low, approximately 1:5000, but considering the great clinical heterogeneity less typical patients may well remain undiagnosed.
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