Marfan syndrome

Question 1

What is the inheritance pattern?

Answer 1

Autosomal dominant

Question 2

1) It’s caused by a defect on the FBN1 gene on what chromosome?
2) This gene codes for what protein?

Answer 2

1) 15
2) Protein fibrillin 1

Question 3

Name 3 features of Marfan’s

Answer 3

• Pes cavus (foot with abnormally high plantar arch)
• Tall stature
• Arm span>height
• Arachnodactyly
• Scoliosis
• Pectus excavatum (sunken sternum)
• High arched palate
• Mitral valve prolapse
• Dilation of aortic sinuses (aortic dissection, aortic aneurysm and AR)
• Upwards lens dislocation, blue sclera and myopia
• Repeated pneumothorax
• Durac ectasia