Synonyms
MFS
Definition
Marfan syndrome is an autosomal dominant pleiotropic disorder of connective tissue with an incidence in the general population of approximately two to three in 10,000. There is no particular ethnic predisposition. The major clinical findings associated with Marfan syndrome include aortic root dilatation that may lead to dissection, ectopia lentis and dural ectasia (4).
Characteristics
Mitral valve prolapse, aortic root dilatation, mitral regurgitation, aortic valve regurgitation and dissection and rupture of the aorta are the most common cardiovascular findings in patients with Marfan syndrome. Additional ocular signs include myopia, increased axial globe length that may lead to retinal detachment and corneal flatness. Skeletal features, which may collectively represent a single major criteria and lead to earlier recognition of Marfan syndrome, include increased height and arm span, reduced upper to lower segment ratio, pectus excavatum or pectus carinatum,...
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References
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Neptune ER, Frischmeyer PA, Arking DE et al (2003) Dysregulation of TGF-beta activation contributes to pathogenesis in Marfan syndrome. Nat Genet 33:407–411
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© 2006 Springer-Verlag
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Giampietro, P.F. (2006). Marfan Syndrome. In: Encyclopedic Reference of Genomics and Proteomics in Molecular Medicine. Springer, Berlin, Heidelberg . https://doi.org/10.1007/3-540-29623-9_1830
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DOI: https://doi.org/10.1007/3-540-29623-9_1830
Publisher Name: Springer, Berlin, Heidelberg
Print ISBN: 978-3-540-44244-8
Online ISBN: 978-3-540-29623-2
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