Noonan Syndrome Flashcards
1
Q
What is the inheritance pattern of Noonan syndrome?
A
AD
2
Q
What are the clinical manifestations of Noonan syndrome?
A
- Cardiac anomalies:
a) Pulmonary valve stenosis
b) ASD
c) VSD
d) Branch pulmonary artery stenosis
e) TOF
f) Hypertrophic cardiomyopathy - Short stature
- Broad or webbed neck
- Shield-shaped chest with low set nipples
- Coagulation disorders and lymphatic abnormalities
- Mild MR (up to 1/3)