Marfan syndrome

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  • Hereditary connective tissue disorder
    • Caused by autosomal-dominant mutation in fibrillin gene (FBN1)
    • 75% of cases are autosomal dominant with different features among family members
    • 25% mutations occur spontaneously, though may be associated with older paternal age

Clinical Features

  • Tall stature, long extremities and digits, scoliosis, pectus excavatum
  • Ligamentous laxity, hyperextensibility
  • Myopia due to lens dislocation
  • Dural ectasia (low back pain, paresthesias/numbness, bowel/bladder dysfunction)
  • Mitral valve prolapse (~85%), mitral regurgitation
  • High arched palate

Increased risk of: