Results 31 to 40 of about 3,631,363 (269)
Orthodontic Perspective on Marfan Syndrome: A Unique Case Report [PDF]
Journal of Clinical and Diagnostic Research, 2023 Marfan syndrome is considered a relatively rare genetic disorder that affects the connective tissues in the body. It is caused by a specific mutation in the Fibrillin 1 (FBN1) gene, which is a critical component of microfibrils.
Shiladitya Sil +3 more
doaj +1 more source
Cassidy and Allanson's Management of Genetic Syndromes, 2018 Because connective tissue is found throughout the body, Marfan syndrome can affect many systems, often causing abnormalities in the heart, blood vessels, eyes, bones, and joints. The two primary features of Marfan syndrome are vision problems caused by a
F. Ramirez, J. D. De Backer
semanticscholar +1 more source
A patient with Marfan syndrome in a general practitioner’s office [PDF]
, 2015 Marfan syndrome is a disorder of the connective tissue (fibrillins and elastins). It is an autosomal dominant disease associated with a defect of chromosome 15 which encodes fibrillin-1.
Emilia Rozwadowska +7 more
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No beneficial effect of general and specific anti-inflammatory therapies on aortic dilatation in Marfan mice. [PDF]
PLoS ONE, 2014 AIMS:Patients with Marfan syndrome have an increased risk of life-threatening aortic complications, mostly preceded by aortic dilatation. In the FBN1(C1039G/+) Marfan mouse model, losartan decreases aortic root dilatation.
Romy Franken +8 more
doaj +1 more source
Stem Cell Research, 2021 Variants in FBN1 are associated with Marfan Syndrome, an autosomal dominant disorder with clinical features that involve the musculoskeletal, cardiovascular and ocular systems. We generated a human iPSC line QDMHi001-A from a patient with Marfan syndrome
Suihan Wu +3 more
doaj +1 more source
Aortic Dissection Risk in Marfan Syndrome
Journal of the American College of Cardiology, 2020 Victor McKusick provided the first systematic description of cardiovascular disease in patients with Marfan syndrome in 1955 (1). Limited life expectancy among affected individuals was primarily attributable to fatal aortic dissection (2).
M. Roman, R. Devereux
semanticscholar +1 more source
Marfan Syndrome and Autosomal Dominant Polycystic Kidney Disease: A Case of Rare Co-occurrence or Coincidence? [PDF]
, 2022 Background: Marfan syndrome (MFS) and autosomal dominant kidney disease (ADPKD) are two separate genetic disorders. The author describes the case of a young male with ADPKD who incidentally had Marfan-like features. A literature review was carried out to
Arjun Sekar
core +1 more source
Management Strategies of Ocular Abnormalities in Patients with Marfan Syndrome: Current Perspective
Journal of Ophthalmic & Vision Research, 2019 Marfan syndrome is an autosomal dominant genetic connective tissue disorder that results from mutations in the fibrillin-1 gene located on chromosome band 15q15–21. Fibrillin, a glycoprotein, is widely expressed throughout the body and contributes to the
H. Esfandiari +3 more
semanticscholar +1 more source
High prevalence of ventricular repolarization abnormalities in people carrying TGFβR2 mutations
Scientific Reports, 2018 Mutations in the TGFβR2 gene have been associated with a life threatening risk of aortic dissection but no arrhythmic death has been previously reported.
F. Extramiana +16 more
doaj +1 more source
Síndrome de Marfan. Reporte de un paciente [PDF]
, 2015 Marfan syndrome is a congenital hereditary disease (sporadic in 15-30% of cases) of connective tissue, dominant autosomal with complete penetrance, with prevalence estimated at one per 5 000 people and incidence of one per 10 000 births without racial or
González Fernández, Eric +2 more
core +1 more source