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Marfan vs Ehlers-Danlos - sonia29
#1


What is the main difference between them?

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#2
marfans is an AD disease due to defective fibrillin which is an imp component of elastic tissue. So this results in defective joint, ligament, skin and blood vessel. So patient has stretchy joint and skin, long thin extremities, upward dislocation of lens and aortic root dilatation which can give rise to aortic regurgitation and also they can have MVP. (downward dislocation of lens with marfanoid feature is seen in homocysteinuria).
ED syndrome is due to defective collagen synthesis resulting in defective joints, ligament and skin. they have easy brusuising, hypermobile joints and skin like marfans, but do not have long thin extremities, no dislocation of lens and AR or MVP.
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