Misc Flashcards
1
Q
Achondroplasia
Gene
Inheritance
What is the lethal form called
A
FGGR3
AD
Thanatrophoric dysplasia
2
Q
Achondroplasia
Limb features
Facial features
Other features
A
Dwarfism with short proximal limbs
Trident hand
Big head with frontal bossing and hypoplasia of the mid face
Low IQ, spinal stenosis and delayed motor milestones
3
Q
Hypochondroplasia
How is it different to achondroplasia
A
Less common, less difference between limbs and the trunk. More likely to have lowered IQ