La sindrome di Marfan è una malattia grave e alcune complicazioni sono potenzialmente letali. Grazie ai progressi dell’assistenza medica, le persone affette da sindrome di Marfan possono avere una durata di vita normale se la malattia viene diagnosticata e trattata in modo appropriato.
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Hypermobile Ehlers-Danlos
Hypermobile Ehlers-Danlos is one of six different types of Ehlers-Danlos syndromes, and it is the most common. Hypermobile Ehlers-Danlos is a connective tissue disorder that predominantly affects the skeletal system. It is characterized by loose joints, often associated with chronic (long-term) joint pain. What other names do people use for Hypermobile Ehlers-Danlos? What are the […]
Les Yeux Et Le Syndrome De Marfan
Le syndrome de Marfan et certaines maladies apparentées peuvent impacter les yeux de nombreuses façons, en entraînant par exemple un déplacement du cristallin et en créant d’autres problèmes oculaires qui peuvent altérer la vision. À l’exception du déplacement du cristallin, ces problèmes oculaires existent également dans la population générale. C’est pourquoi les médecins ne réalisent […]
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Genetic Testing and Marfan Syndrome
Genetic testing for mutations in fibrillin-1 (FBN1) and other genes has become an important and reliable option to aid in the diagnosis of Marfan syndrome and related disorders. However, the results of genetic testing for the diagnosis of disorders are not always straightforward. Therefore, working with a medical geneticist (a physician with training in genetics) […]
Tags: Marfan Syndrome , Patients & Families
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