Noonan Syndrome Flashcards

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1
Q

What is the inheritance pattern of Noonan syndrome?

A

AD

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2
Q

What are the clinical manifestations of Noonan syndrome?

A
  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)
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