Le syndrome de Marfan est souvent à l’origine de problèmes au niveau des os et des articulations. Ce sont en réalité souvent ces caractéristiques qui amènent en premier une personne à soupçonner un syndrome de Marfan et à chercher à obtenir un diagnostic. Ces caractéristiques (désignées caractéristiques squelettiques) se manifestent lorsque les os dépassent la longueur habituelle ou que les ligaments (le tissu conjonctif qui maintient ensemble les articulations) s’étirent, comme des élastiques lâches.
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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 Planning and Pregnancy
Decisions about family planning can be difficult and very emotional when one of the prospective parents has a genetic disorder, such as Marfan syndrome. Before making any decisions, parents should understand the many options now available, as well as the potential risks to the child and the mother. A genetic counselor or the nurse in […]
Marfan Syndrome: The Basic Facts
Marfan syndrome is a life-threatening genetic disorder of the body’s connective tissue. Knowing the signs of Marfan syndrome, getting a proper diagnosis, and receiving the necessary treatment can enable people with Marfan syndrome to live a long and full life. What are the features of Marfan syndrome? Who has Marfan syndrome? What is life like […]
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