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0:04
Marfan syndrome is a genetic disorder that affects the body’s connective tissue, which is the tissue that holds all the organs and tissues together. People with Marfan syndrome often have a tall, thin build, long arms, legs, fingers, and toes, and flexible joints. They may also have distinct facial features like a long face, deep-set eyes, and a small chin. Scoliosis is a condition where the spine curves to the side, making it look like an “S” or “C” shape. This can cause uneven shoulders and hi
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Dr Harsh Duhan on Instagram: "⏩️ Marfan Syndrome: The Archetype of Connective Tissue Disorders ✅️ Basics Genetic disorder (Autosomal dominant) caused by FBN1 mutations (fibrillin-1). Affects connective tissue—cardiovascular, skeletal, ocular systems. High penetrance | Variable expressivity. ~25% of cases are de novo mutations. Part of heritable thoracic aortic disease spectrum. ✅️ Key Clinical Features Cardiovascular: Aortic root aneurysm (most common initial sign), Aortic dissection (Type A > T
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Marfan syndrome is an inherited disorder that affects connective tissue. It most commonly affects the heart, eyes, blood vessels and skeleton. People with Marfan syndrome are usually tall and thin with unusually long arms, legs, fingers and toes (from mayoclinic.org) #arachnodactyly #feet #marfansyndrome
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Health Secrets on Instagram: "Marfan Syndrome is a genetic connective tissue disorder that affects the heart, eyes, bones, and blood vessels. People may appear tall with long limbs, flexible joints, and chest or spinal deformities. Early diagnosis is crucial because heart complications can be life-threatening. Severe Scoliosis is an abnormal sideways curvature of the spine that can worsen during growth. In severe cases, it may affect posture, breathing, and quality of life. Timely monitoring, br
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