Achondroplasia Flashcards
1
Q
Features
A
Normal mental and lifespan
Short limb dwarfism
Trunk normal length
Enlarged skull vault, small face, flat nose
2
Q
Cause
A
Autos domin pt mut in FGFR3 gene caues- Decr endochondrial ossif Inhib prolif of chondrocytes in growth pl Decr cell hypert Decr cartil matrix produc
3
Q
Genetics
A
Over 80% new mut
If both paents have it then 25% homoz and die
50% chance heteroz sufferer
25% normal
