Silver-Russell Syndrome Flashcards

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1
Q

What type of disorder is Russell-Silver Syndrome?

A

Uniparental disomy 7q32, 11p15

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2
Q

What are the clinical characteristics for RSS?

A
  1. Short stature
  2. Fifth Finger clinodactyl
  3. Normal head circumference
  4. Elfin facies (triangular facies characterized by broad forehead, narrow chin)
  5. Limb length asymmetry, hemihypertrophy
  6. Developmental delay
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