Wolf-Hirschorn Syndrome Flashcards

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1
Q

What is the genetic defect?

A

Deletion of one copy of chromosome 4p16

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2
Q

What are the clinical features?

A
  1. Pre and postnatal growth retardation
  2. MR
  3. Dysmorphic facies (protruding eyes, hypertelorism, high nasal bridge, maxillary hypoplasia) = Greek helmet like appearance
  4. Congenital heart defects e.g. ASD, VSD
  5. Midline defects
  6. Seizures
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