MSK - Osteogenesis Imperfecta

Question 1

Definition

Answer 1

Genetic condition that results in brittle bones that are prone to fractures.
- It is also knowns as brittle bone syndrome.

Question 2

Aetiology

Answer 2

Caused by a range of genetic mutations that affect the formation of collagen.

Question 3

Role of conditions

Answer 3

Collagen is a protein that is essential is maintaining the structure and function of bone, as well as skin, tendons and other connective tissues.

Question 4

Types of osteogenesis imperfecta

Answer 4

There are 8 types of osteogenesis imperfecta depending on the underlying genetic mutation, and they vary in their severity.

Question 5

Signs and symptoms

Answer 5

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

Question 6

Key features of Osteogenesis Imperfecta

Answer 6

BLUE SCLERA

Question 7

Typical patient

Answer 7

A young child with unusual and recurrent fractures that would normally make you consider safeguarding, however “you notice a blue discolouration to the sclera”.

Question 8

Diagnosis

Answer 8

• Clinical diagnosis.
• Xrays can be helpful in diagnosing fractures and bone deformities

Question 9

Treatment

Answer 9

No cure
Medical treatments include:
- Bisphosphates to increase bone density
- Vitamin D supplementation to prevent deficiency

Question 10

Management by MDT

Answer 10

• 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