Miller-Dieker Syndrome Flashcards
1
Q
What is the genetic defect?
A
Deletion of several genes on chromosome 17p
2
Q
What are the clinical features of Miller-Dieker?
A
- Lissencephaly (smooth brain without gyri)
- Facial dysmorphism (highforehead, bitemporal narrowing, short nose)
- Mental retardation
