Les personnes atteintes du syndrome de Marfan et de certaines maladies apparentées sont nombreuses à présenter des complications pulmonaires ou des problèmes au niveau de leurs poumons. Si vous souffrez du syndrome de Marfan, il est important que vous consultiez un pneumologue (un médecin spécialiste des poumons) si vous soupçonnez un problème pulmonaire, quel qu’il soit.
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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
Stickler Syndrome
Stickler syndrome is a group of genetic disorders that affects connective tissue, specifically collagen. The condition is characterized by facial abnormalities, ocular problems, hearing loss, and joint problems. What are the features of Stickler syndrome? How prevalent is Stickler syndrome? What other names do people use for Stickler syndrome? How is Stickler syndrome diagnosed? Find […]
Family Health History
Your family health history is a collection of health information about you and your close relatives. It contains information about disorders, diseases, and health problems that you and your children may be at risk for now or in the future. Most important, it can also help your doctors as they consider whether or not you […]
Tags: Marfan Syndrome , Patients & Families
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