Marfan Syndrome

 

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A young man with Marfan syndrome, showing characteristically long limbs and narrow face.

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Arachnodactyly in an 8-year-old girl with Marfan syndrome.

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The hand at the left is that of a young woman with Marfan's syndrome, while the hand at the right is a normal male. Both persons were of the same height, 188 cm. However, note that the hand at the left demonstrates arachnodactyly.

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This mucin stain of the wall of the aorta demonstrates cystic medial necrosis, typical for Marfan's syndrome and causes the connective tissue weakness that explains the aortic dissection. Pink elastic fibers, instead of running in parallel arrays, are disrupted by pools of blue mucinous ground substance.

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This view of the mitral valve in a patient with Marfan's syndrome depicts a floppy mitral valve. The leaflet on the lower left has ballooned upward and the prolapse has resulted in contusion of the top of the leaflet, with a red black area of discoloration.

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