Osteogenesis imperfecta is a genetic condition that results in brittle bones that are prone to fractures. It is also knowns as brittle bone syndrome. It is caused by a range of genetic mutations that affect the formation of collagen. Collagen is a protein that is essential is maintaining the structure and function of bone, as well as skin, tendons and other connective tissues. There are 8 types of osteogenesis imperfecta depending on the underlying genetic mutation, and they vary in their severity.
Presentation
Osteogenesis imperfecta presents with recurrent and inappropriate fractures. There are several associated features:
- Hypermobility
- Blue / grey sclera (the “whites” of the eyes)
- Triangular face
- Short stature
- Deafness from early adulthood
- Dental problems, particularly with formation of teeth
- Bone deformities, such as bowed legs and scoliosis
- Joint and bone pain
TOM TIP: The key feature that often appears in exams that should make you think about osteogenesis imperfecta is the blue sclera. This is a unique feature that examiners love to drop in. The exam patient may be a young child with unusual and recurrent fractures that would normally make you consider safeguarding, however “you notice a blue discolouration to the sclera”.
Management
Osteogenesis imperfecta is a clinical diagnosis. Xrays can be helpful in diagnosing fractures and bone deformities. Genetic testing is possible but not always done routinely.
The underlying genetic condition cannot be cured. Medical treatments include:
- Bisphosphates to increase bone density
- Vitamin D supplementation to prevent deficiency
Management is done by the multidisciplinary team, with:
- Physiotherapy and occupational therapy to maximise strength and function
- Paediatricians for medial treatment and follow up
- Orthopaedic surgeons to manage fractures
- Specialist nurses for advice and support
- Social workers for social and financial support
Last updated January 2020