Wolf-Hirschorn Syndrome

Question 1

What is the genetic defect?

Answer 1

Deletion of one copy of chromosome 4p16

Question 2

What are the clinical features?

Answer 2

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