Rasopathies Flashcards

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1
Q

[Gen/Rasopathy/Noonan]

Most common heart defect of Noonan syndrome? (2)

A
  1. Pulmonary valve stenosis
  2. Hypertrophic cardiomyopathy
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2
Q

[Gen/Rasopathy/Noonan]

Physical characteristics of Noonan syndrome? (3)

A
  1. Short stature
  2. Webbed neck
  3. Lymphedema
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3
Q

[Gen/Rasopathy/Noonan]

Anomalies/Symptoms of Noonan syndrome? (3)

A
  1. Congenital heart defect (PS, HCMP)
  2. Developmental delays
  3. Bleeding diathesis
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4
Q

[Gen/Rasopathy/Noonan vs others]

Cardiac defects for Turner vs Noonan vs William

A

Turner: bicuspid aortic valve, coarctation of the aorta
Noonan: pulmonary valve stenosis, hypertrophic cardiomyopathy
William: supravalvar aortic stenosis

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5
Q

[Gen/Rasopathy/Costello]

Characteristics of Costello syndrome? (5)

A
  1. Face: coarse, full lips, large mouth, full nasal tip, curly or sparse, fine hair
  2. Skin: papillomata of the face and perianal region
  3. MSK: diffuse hypotonia, joint laxity, tight Achilles tendons, short stature
  4. Cardiac: hypertrophic cardiomyopathy, pulmonic stenosis
  5. Neuro: Macrocephaly, Chiari I malformation, developmental delay or intellectual disability, Severe postnatal feeding difficulties
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6
Q

[Gen/Rasopathy/Costello]

Genetic cause of Costello syndrome?

A

HRAS

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