Difference between revisions of "Marfan syndrome"

 
Line 8: Line 8:
 
*Tall stature, long extremities and digits, scoliosis, pectus excavatum
 
*Tall stature, long extremities and digits, scoliosis, pectus excavatum
 
*Ligamentous laxity, hyperextensibility
 
*Ligamentous laxity, hyperextensibility
*Myopia due to lens dislocation
+
*Myopia due to [[lens dislocation]]
*Dural ectasia (low [[back pain]], paresthesias/numbness, bowel/bladder dysfunction)
+
*Dural ectasia (low [[back pain]], [[paresthesias]]/[[numbness]], bowel/bladder dysfunction)
 
*[[Mitral valve prolapse]] (~85%), [[mitral regurgitation]]
 
*[[Mitral valve prolapse]] (~85%), [[mitral regurgitation]]
 
*High arched palate
 
*High arched palate

Latest revision as of 21:19, 1 October 2019

Background

  • 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

Increased risk of: