Clinical correlates Flashcards
1
Q
Whatis Holopresencephaly?
A
Severe: Lateral ventricles fuse to form a single ventricle, so do eyes.
Mild: incomplete developmnt of midline structures
NOTE: Mutations of SHH have been implicated here
2
Q
What is ancephaly?
A
Results form a failure of cranial neuropore to close, so skull doesn’t form
3
Q
What is Arnold-Chiaari malformation?
A
results in herniation of cerebellar vermis, tonsils, and medulla thru foramen magnum. Associated w/ stretching of CN IX and XII
4
Q
What’s coloboma?
A
Failure of optic fissure to close completely (usually defect inferior to optic disc). Can result in keyhole shaped pupil
5
Q
How does detached retina occur?
A
Inner/outer layers of opitc cup fail to fuse
6
Q
What is congenital aniridia
A
Complete absence of iris due to mutations of Pax6
