Results 11 to 20 of about 2,210,543 (259)
Nature Reviews Disease Primers, 2021 Marfan syndrome (MFS) is an autosomal dominant, age-related but highly penetrant condition with substantial intrafamilial and interfamilial variability. MFS is caused by pathogenetic variants in FBN1, which encodes fibrillin-1, a major structural component of the extracellular matrix that provides support to connective tissues, particularly in arteries,
D. Milewicz +8 more
semanticscholar +3 more sources
Journal of Pharmacy And Bioallied Sciences, 2017 Marfan syndrome (MFS) is the autosomal dominant-inherited multisystem connective-tissue disorder, with a reported incidence of 1 in 10,000 individuals and equal distribution in both genders. The main clinical manifestation of this disorder consists of an exaggerated length of the upper and lower limbs, hyperlaxity, scoliosis, alterations in the ...
T Sivasankari +3 more
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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. Ho +2 more
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Egyptian Journal of Chest Diseases and Tuberculosis, 2013 AbstractAn 18years old male patient, non-smoker, presented by shortness of breath of 1week duration.
Ahmed A. El-Masry +3 more
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Marfan syndrome and schizophrenia : a case report and literature review
European Psychiatry, 2022 Introduction Marfan syndrome is an autosomal dominant systemic disorder with connective tissue defects in multiple organ systems. Cardinal manifestations of this syndrome involve the cardiovascular, the skeletal and the ocular system.
S. Dhakouani +4 more
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Frontiers in Cardiovascular Medicine, 2023 ObjectiveThe aortic root is the most frequent segment involved in Marfan syndrome. However, Marfan syndrome is a systemic hereditary connective tissue disorder, and knowledge regarding the outcomes of the native distal aorta after prophylactic aortic ...
Hao Liu +7 more
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British Journal of Ophthalmology, 1959 Abstract The case is presented of a 46-year-old Negro woman with the classic features of Marfan's syndrome: spider fingers, ectopia lentis, aneurysms of the sinuses of Valsalva, dilatation of the aortic ring, and aortic regurgitation. The occurrence of medial degeneration of the great vessels is now recognized to be the most important aspect of the ...
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American Journal of Neuroradiology, 2020 BACKGROUND AND PURPOSE: The association of arterial tortuosity and connective tissue diseases is widely reported in the literature, but only a few studies were based on a quantitative evaluation of this arterial phenotype, and none of the latter examined
L. Spinardi +8 more
semanticscholar +1 more source
Molecular Genetics & Genomic Medicine, 2020 Background Pathogenic SMAD3 variants are responsible for a cardiovascular phenotype, mainly thoracic aortic aneurysms and dissections. Precocious identification of the vascular risk such as aortic dilatation in mutated patients has a major impact in ...
Bertrand Chesneau +13 more
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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
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