Results 11 to 20 of about 3,631,363 (269)
Diagnosis and Management of Marfan Syndrome [PDF]
Majalah Kardiologi Indonesia, 2014 Background: Marfan syndrome is an autosomal dominant disorder of connective tissue, involving cardiovascular, ocular, skeletal and skin, pulmonary, and dura mater.
Andi Mahavira, Bambang B Siswanto
doaj +2 more sources
, 2023 Abstract: Marfan syndrome (MFS) is an autosomal dominant disorder of connective tissue, involving the cardiovascular, ocular, and skeletal systems, as well as the lungs, dura, and skin. Cardiovascular complications, including aortic root dilatation, aortic dissection and rupture, mitral valve prolapse, mitral and/or aortic valve regurgitation, begin in
Vanhoenacker, Filip +2 more
core +6 more sources
Marfan Syndrome: A Case Report
Case Reports in Dentistry, 2012 Marfan syndrome is an autosomal dominant systemic disorder of the connective tissue. Children affected by the Marfan syndrome carry a mutation in one of their two copies of the gene that encodes the connective tissue protein fibrillin-1.
Rajendran Ganesh +2 more
doaj +2 more sources
Facial and Ocular Features of Marfan Syndrome
Diseases, 2014 Marfan syndrome is the most common inherited disorder of connective tissue affecting multiple organ systems. Identification of the facial, ocular and skeletal features should prompt referral for aortic imaging since sudden death by aortic dissection and ...
Juan C. Leoni +2 more
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The Marfan syndrome genetics [PDF]
Zdravniški Vestnik, 2005 Background: The Marfan syndrome is an autosomal dominant heritable disorder of connective tissue. It is caused by mutations in the fibrillin-1 gene encoding glycoprotein fibrillin-1, a component of microfibrils of extracellular matrix.
Galina Pungerčič
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Marfan syndrome diagnosis and management [PDF]
SA Heart Journal, 2017 Marfan syndrome is the most common inherited multisystem disorder of connective tissue. This autosomal dominant condition has an incidence of 2-3 per 10,000 individuals. Although genetic diagnostic techniques are available, the diagnosis is primarily
Naser M. Ammash, Heidi M. Connolly
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Current Medical Issues, 2022 Marfan syndrome abnormal ...
Arihant Seth +3 more
openaire +3 more sources
Cancer Risk in Marfan Syndrome: A Swedish Population-Based Cohort Study. [PDF]
Int J CancerThe cancer risk in Marfan syndrome, an autosomal dominant connective tissue disorder, largely remains to be explored. In this population‐based matched cohort study of 1544 Swedish patients, the overall cancer risk in adults with Marfan syndrome showed no significant increase, except for the risk of endocrine tumours with a nearly threefold increase ...
Nordgren I +8 more
europepmc +2 more sources
Increased Disarray of Extracellular Matrix Collagen-I Fiber Network and Compromised Biomechanics in Aortae From Marfan-Syndrome Mice Assessed Through Combined Opto-Biomechatronics. [PDF]
Adv Sci (Weinh)Combined structure‐function assessment in aortic rings from Marfan mice using MechaMorph Opto‐Biomechatronics technology relates increased elasticity (stiffness) and dynamic viscosity and less ordered extracellular matrix 3D‐structure (collagen) as potential causes for impaired Windkessel function and compromised haemodynamics in Marfan's syndrome ...
Schneidereit D +10 more
europepmc +2 more sources
The Lancet, 2005 1978 www.thelancet.com Vol 366 December 3, 2005 Marfan’s syndrome is a multisystem connective tissue disorder of autosomal dominant inheritance. Approximately one in every 5000 individuals is affected, though this figure is probably an underestimate. The condition shows no predilection for any particular race or geographical background.
Nicola C Y, Ho +2 more
openaire +4 more sources