Osteogenesis imperfecta Flashcards
(6 cards)
What is osteogenesis imperfecta?
Also known as brittle bone syndrome, it is a genetic condition that results in brittle bones that are prone to fractures.
What causes osteogenesis imperfecta?
A range of genetic mutations that affect the formation of collagen. It is autosomal dominant. Collagen is a protein essential for 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.
What are the presentations of osteogenesis imperfecta?
Presents with recurrent and inappropriate fractures, hypermobility, blue/grey sclera (whites of the eyes), deafness from early adulthood secondary to otosclerosis, dental problems, particularly with formation of teeth, fractures following minor trauma, triangular face, short stature, bone deformities such as bowed legs and scoliosis, and joint and bone pain.
How is osteogenesis imperfecta diagnosed?
Clinical diagnosis. X-ray can be helpful in diagnosing fractures and bone deformities. Genetic testing is possible but not done routinely. (Adjusted calcium, phosphate, PTH, and ALP are normal in this.)
What is the medical treatment for osteogenesis imperfecta?
Bisphosphonates to increase bone density and vitamin D supplementation to prevent deficiency.
What is included in the MDT team for osteogenesis imperfecta?
Physiotherapy and OT to maximise strength and function, paediatricians for medical treatment and follow-up, orthopaedic surgeons to manage fractures, specialist nurses for advice and support, and social workers for social and financial support.
