Marfans Syndrome

Marfans Syndrome

autosomal dominant with complete penetrance

due to mutations in the Fibrillin-1 gene found on chromosome 15q21

over 500 different mutations identified so far

Marfan’s is characterized by:
Physical findings of tall stature, pectus excavatum, arachnodactyly, scoliosis
Eye problems such as lens dislocation, cataracts
Cardiac problems such as mitral valve prolapse and mitral valve regurgitation, aortic root dilatation, aortic dissection (very common)
Central Nervous System problems such as dural ectasia

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