Skeletal dysplasias Flashcards
1
Q
What syndrome is COL2A1 gene defect associated with?
A
SED congenita
2
Q
What syndrome is collagen 9 defect associated with?
A
MED
3
Q
What syndrome is COMP gene associated with?
A
Pseudoachondroplasia
4
Q
Achondroplasia clinical manifestations?
A
Frontal bossing Short stature Rhizomelic Foramen magnum stenosis Lumbar stenosis Thoracolumbar kyphosis which resolves Champagne pelvis Radial head subluxed Genu varum
