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Oct 7, 2017 · Pregnancy in women with Marfan syndrome (MFS) presents challenges to the clinician and the patient due to the increased incidence of maternal complications and involvement of the fetus, and deserves special consideration. The leading cause of morbidity and mortality in MFS is aortic dissection. This article presents an extensive review of ...
Jul 29, 2018 · Marfan syndrome (MS) is a multisystem disorder caused by a mutation in FBN1 gene. It shares some phenotypic features with hypermobile Ehlers-Danlos syndrome (EDS) such as joint hypermobility. EDS is a group of inherited heterogenous multisystem disorders characterized by skin hyperextensibility, atrophic scarring, joint hypermobility, and generalized tissue fragility.
If a mutation known to cause Marfan syndrome in others is detected, one major criterion in an organ system and involvement of a second organ system For a relative of an index case: Presence of a major criterion in the family history and one major criterion in an organ system and involvement of a second organ system
Dec 1, 2023 · Marfan syndrome is a genetic (inherited) disorder that affects the body's connective tissue. Connective tissue is the tough, fibrous, elastic tissue that connects one part of the body with another. It is a major part of tendons, ligaments, bones, cartilage and the walls of large blood vessels.
There's currently no cure for Marfan syndrome. Treatment focuses on managing the symptoms and reducing the risk of complications. As Marfan syndrome affects several different parts of the body, your treatment programme will involve a number of healthcare professionals. These may include: a geneticist – a specialist in genetic disorders
Sep 2, 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, the pericondrium and structures in the eye.
Marfans syndrom er en arvelig bindevævssygdom karakteriseret ved meget lange lemmer, lange tynde fingre, en typisk høj statur og predisponering for hjerteabnormaliteter, specielt aorta og hjerteklapperne. Den påvirker også øjnene ved løse linser. Det er ikke alle med dette syndrom der har alle symptomer. Der er eksempler på patienter der ...
