Marfan Syndrome: A Primer for Clinicians and Scientists by Peter N. Robinson

By Peter N. Robinson

Marfan Syndrome is a hereditary disease of connective tissue which essentially impacts the cardiovascular, skeletal, and ocular platforms. outstanding growth within the box has been made in either medical and basic-science study because the discovery of the gene for fibrillin-1 (FBN1) in 1991, mutations during which reason the Marfan syndrome. Marfan Syndrome: A Primer for Clinicians and Scientists provides a finished review of scientific elements of Marfan syndrome, FBN1 mutation research, the biology of fibrillin and fibrillin-containing microfibrils, and the molecular pathogenesis of the Marfan syndrome. The authors are favourite and lively researchers in medical and basic-science examine on Marfan syndrome and fibrillin.

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Shprintzen-Goldberg syndrome: a clinical analysis. Am J Med Genet 1998; 76(3):202-212. 28. Hayward C, Porteous ME, Brock DJ. A novel mutation in the fibrillin gene (FBN1) in familial arachnodactyly. Mol Cell Probes 1994; 8(4):325-327. 29. Lönnqvist L, Child A, Kainulainen K et al. A novel mutation of the fibrillin gene causing ectopia lentis. Genomics 1994; 19(3):573-576. 30. Comeglio P, Evans AL, Brice G et al. Identification of FBN1 gene mutations in patients with ectopia lentis and marfanoid habitus.

The ocular symptoms of the neonatal MFS include lens subluxation or dislocation, megalocornea, iridodenesis, and cataract. 25 It should be noted that the timepoint of diagnosis in the neonatal period alone does not justify the diagnosis of neonatal MFS. 25 To date all reported cases of neonatal MFS have been sporadic. 25, 40 Shprintzen-Goldberg Craniosynostosis Syndrome This craniofacial dysmorphism is characterized by craniosynostosis and a marfanoid habitus. 41 To date, no further FBN1 mutations have been identified in Shprintzen-Goldberg syndrome42-45 and it remains unclear if variants in FBN1 contribute to the phenotype of SGS directly, indirectly, or at all.

6 The reader is referred to the chapter by Sponseller and Shindle in this volume for further information. 16 Marfan Syndrome: A Primer for Clinicians and Scientists Table 3. g. weightlifting Consider prophylactic surgical replacement of ascending aorta at 5 cm dilatation (or earlier if a family history of dissection/rupture at diameter < 5 cm is present) Life-long regular monitoring of all unreplaced aortic segments and heart Clinical Management Table 3, Table 4 and the following paragraphs offer an overview of the most important aspects of the clinical management of individuals with Marfan syndrome.

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