Osteogenesis Imperfecta Flashcards
1
Q
What is Osteogenesis imperfecta?
A
Genetic condition causes brittle bones that are prone to fracture
2
Q
What is Osteogenesis imperfecta caused by?
A
A range of genetic mutations that affect the formation of collagen
3
Q
What type of condition is osteogenesis imperfecta?
A
Autosomal dominant condition- Abnormality in type 1 collagen
4
Q
How does Osteogenesis Imperfecta present?
A
- Recurrent fractures following minor trauma
- Hypermotility
- Deafness
- Short stature
- Blue/grey sclera
- Deafness secondary to otosclerosis
- Dental imperfections -formation of teeth
- Bone deformities
5
Q
What bone deformities are common with osteogenesis imperfecta?
A
Bow legged
Scoliosis
6
Q
What investigations are carried out for Osteogenesis Imperfecta?
A
- Clinical diagnosis
* X-ray-fractures and bone deformities
7
Q
What is the management of Osteogenesis Imperfecta?
A
- Bisphosphonate
* Vitamin D
8
Q
Why would you give vitamin D for osteogenesis imperfecta?
A
To prevent deficiency
