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Example sentences for: marfan
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The Marfan syndrome (MFS) is an autosomal dominant connective tissue disorder with an estimated incidence of 1 in 5,000 live births [ 1 ] . Besides the classic manifestations in the cardiovascular, ocular and musculoskeletal systems, frequent features include spontaneous pneumothorax, inguinal herniae, striae atrophicae in the skin and lumbosacral dural ectasia.
Currently, several risk factors have been identified including cigarette smoking, arterial hypertension, gender, aging, atherosclerosis and heavy alcohol consumption [ 9 10 11 12 ] . Initial indications of a genetic component were based on collections of case reports that suggested that IAs are associated with some rare simple Mendelian disorders, e.g. autosomal dominant polycystic kidney disease, Ehlers Danlos syndrome type IV and the Marfan syndrome [ 13 ] . More recent systematic prevalence estimates indicate either absence of association or markedly reduced prevalence of IA among patients with rare simple Mendelian disorders [ 14 15 ] . Also, genetic analyses of genes known to cause some simple Mendelian disorders have proven negative for collections of patients with IA [ 16 17 ] . The familial occurrence of IAs not associated with known simple Mendelian disorders was first noted in 1942 [ 18 ] and, since then, nearly one hundred case reports and review articles have been published.
When a committee was convened to decide whether specimens of Lincoln's blood and bones should be tested for DNA to discover whether he suffered from Marfan syndrome, ethicists voted yes but scientists vetoed the plan, claiming that the precious material should not be destroyed in case future tests would prove more effective [4,5].
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