Smith-Magenis Syndrome Flashcards

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1
Q

What is the genetic defect?

A

Deletion of chromosome 17p11.2

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2
Q

What are the clinical manifestations of Smith-Magenis Syndrome?

A
  1. MR
  2. Speech delay
  3. Self-injurious behavior
  4. Sleep disturbance
  5. Facial dysmorphisms (synophrys (unibrow), brachycephaly, frontal bossing, tented upper lip)
  6. Hearing loss
  7. Tooth agenesis
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