CHAPTER 19

Marfan Syndrome

CHAPTER OBJECTIVES

• Describe the etiology and various forms of Marfan syndrome.
  
• Detail the phenotypic features, symptoms, and physical examination findings associated with Marfan syndrome.
  
• Discuss dominant negative mutation, variable expressivity, genetic heterogeneity, and genocopy.
  
• Review current treatment and surveillance recommendations for Marfan syndrome.

KEY TERMS

Dominant negative mutation

Genetic heterogeneity

Genocopy

Microfibrils

Variable expressivity

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