MSRA: Marfan's Syndrome

Question 1

What is the inheritance pattern for Marfan’s syndrome?

Answer 1

Autosomal dominant
Mutation to Fibrillin-1 gene

Question 2

What are the physical features of Marfan’s syndrome?

Answer 2

Tall, thin frame
Long arms and fingers
High arched palate
Joint hypermobility
Funnel chest

Question 3

What are the complications in Marfan’s syndrome?

Answer 3

Upward lens dislocation
Retinal detachment
Aortic aneurysm
Pneumothorax

Retinal detachment