Noonan Syndrome

Question 1

What is the inheritance pattern of Noonan syndrome?

Answer 1

AD

Question 2

What are the clinical manifestations of Noonan syndrome?

Answer 2

1. Cardiac anomalies:
   a) Pulmonary valve stenosis
   b) ASD
   c) VSD
   d) Branch pulmonary artery stenosis
   e) TOF
   f) Hypertrophic cardiomyopathy
2. Short stature
3. Broad or webbed neck
4. Shield-shaped chest with low set nipples
5. Coagulation disorders and lymphatic abnormalities
6. Mild MR (up to 1/3)