Osteogenesis Imperfecta Flashcards
1
Q
What is osteogenesis imperfecta?
Which type is most common?
A
(Also known as brittle bone disease)
Genetic disorder of type 1 collagen
Most associated with AD mutation on genes 7 and 17
Osteoblasts also affected
Type 1
2
Q
How might someone with osteogenesis imperfeca present?
A
Recurrent inappropriate fractures
Hypermobility
Blue/grey sclera (exam favorite)
Triangular face
Short stature
Deafness from early childhood
Dental problems i.e. formation of teeth
Bone deformities i.e. bow legs and scoliosis
Joint and bone pain
3
Q
How is osteogenesis imperfecta diagnosed?
A
Clinical diagnosis but xrays can be helpful
4
Q
How is it managed?
A
Bisphosphates -> helps to increase bone density
Vitamin D supplementation
Physio
