Study note

Clinical manifestations of Marfan syndrome

THE CONTEXT
Marfan syndrome has cardiovascular, skeletal, skin, joint, ocular and pulmonary manifestations.

Cardiovascular complications

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Aortic dissection and aortic aneurysm are the most serious complications.
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Aortic and mitral valve regurgitation may also occur.

Body habitus, skin and joints

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Skin laxity and joint hypermobility may be present.
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Body habitus abnormalities include long arms, legs and fingers, with long fingers termed arachnodactyly.
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Other skeletal features include scoliosis, pectus excavatum and a high-arched palate.

Ocular and pulmonary findings

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Ocular abnormalities include lens dislocation and retinal detachment.
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There is an increased risk of pneumothorax.
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