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Marfan Syndrome. Presentation of a case
Published 2022-12-01“…A transthoracic echocardiogram was performed. Marfan Syndrome is a rare pathology caused by a genetic mutation in fibrillin 1, essential for the synthesis of elastic connective tissue. …”
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Marfan Syndrome: Regarding Two Cases
Published 2020-02-01“…Marfan syndrome is an autosomal dominant genetic disorder, with a prevalence of 1 every 5,000-10,000 newborns, so it is classified as an uncommon disease. …”
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Body Image in Patients with Marfan Syndrome
Published 2020-04-01Subjects: “…Marfan syndrome…”
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Facial and Ocular Features of Marfan Syndrome
Published 2014-10-01Subjects: “…Marfan syndrome…”
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Marfan Syndrome: Regarding Two Cases
Published 2020-02-01“…Marfan syndrome is an autosomal dominant genetic disorder, with a prevalence of 1 every 5,000-10,000 newborns, so it is classified as an uncommon disease. …”
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The revised Ghent nosology for the Marfan syndrome.
Published 2010“…The diagnosis of Marfan syndrome (MFS) relies on defined clinical criteria (Ghent nosology), outlined by international expert opinion to facilitate accurate recognition of this genetic aneurysm syndrome and to improve patient management and counselling. …”
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Pectus updates and special considerations in Marfan syndrome
Published 2018-01-01“…Here we discuss new techniques for both operative and non-operative treatment of pectus deformity, the importance of a welltimed intervention and special considerations in patients with Marfan syndrome.…”
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Cardiovascular complications of Marfan syndrome in children in the Crimea
Published 2019-03-01“…Marfan syndrome was described more than 125 years ago, but it still remains a very complex and urgent medical problem.The objective. …”
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Marfan's syndrome: early and severe form in siblings
Published 2003-07-01“…Marfan's syndrome is an inherited disorder of the connective tissue. …”
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Neonatal Intrathoracic Gastric Volvulus in Marfan's Syndrome
Published 2018-01-01Subjects: “…marfan's syndrome…”
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Osteoporosis in adult with Marfan syndrome: casuality or causality?
Published 2011-09-01“…It took an additional 50 years before ocular and cardiovascular manifestations were associated with this disorder, now termed Marfan syndrome (MFS). MFS is an inherited connective tissue disorder transmitted as an autosomal dominant trait. …”
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Increased visceral arterial tortuosity in Marfan syndrome
Published 2020-04-01Subjects: “…Marfan syndrome…”
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Biometric and structural ocular manifestations of Marfan syndrome.
Published 2017-01-01“…To study biometric and structural ocular manifestations of Marfan syndrome (MFS).Observational, retrospective, comparative cohort study in a tertiary referral center on 285 MFS patients and 267 controls. …”
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A CASE OF LATE DIAGNOSIS OF MARFAN SYNDROME
Published 2019-08-01Subjects: “…Marfan syndrome…”
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Sex, pregnancy and aortic disease in Marfan syndrome.
Published 2017-01-01“…Sex-related differences as well as the adverse effect of pregnancy on aortic disease outcome are well-established phenomena in humans with Marfan syndrome (MFS). The underlying mechanisms of these observations are largely unknown.In an initial (pilot) step we aimed to confirm the differences between male and female MFS patients as well as between females with and without previous pregnancy. …”
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Bone mineral density in adults with Marfan syndrome.
Published 2000“…OBJECTIVES:Reduced bone mineral density (BMD) has been reported in pre-menopausal women and children with Marfan syndrome (MFS). The bone mineral status of adult men with MFS is unknown. …”
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