Paediatric orthopaedics

Question 1

Define what is meant by osteogenesis imperfecta and describe the pathophysiology [2]

Answer 1

Osteogenesis Imperfecta (OI), also known as brittle bone disease, is a genetic disorder characterized by defective type I collagen, resulting in **fragile bones **and low trauma fractures

Question 2

Describe the signs and symptoms of OI [+]

Answer 2

Frequent fractures often from minimal trauma
Short stature or growth deficiency
Blue sclera caused by the underlying choroidal veins being visible through thin sclera
Defective tooth formation (dentinogenesis imperfecta)
Conductive or sensorineural hearing loss
Scoliosis due to weak spinal bones
Ligament laxity leading to joint hypermobility
Easy bruising

Question 3

Describe how you would investigate for OI [3]

Answer 3

Genetic testing:
- To identify mutations in COL1A1 and **COL1A2 **genes

Imaging studies:
- Such as X-rays to identify fractures and assess bone density

Audiologic evaluations: To identify any hearing loss

Question 4

Define Osgood-Schlatter and describe the pathophysiology

Answer 4

Osgood-Schlatter disease is a self-limited condition characterized by inflammation and stress-induced injury of the tibial tuberosity at the insertion point of the patellar tendon.

The primary cause is mechanical stress due to repetitive traction on the tibial tubercle from the patellar tendon during rapid growth periods in adolescence.

Question 5

Describe the signs and symptoms of Osgood-Schlatter syndrome [4]

Answer 5

Anterior knee pain, often described as localized to the tibial tubercle.

Pain often exacerbated by activities such as running, jumping, or kneeling, and relieved with rest.

Physical examination often reveals swelling and tenderness over the tibial tubercle.

In severe cases, a visible or palpable lump may be present at the tibial tuberosity.

Question 6

How is OSS commonly dx? [1]

Answer 6

Diagnosis is primarily clinical, based on the characteristic signs and symptoms.

Question 7

Describe the management of OSS [3]

Answer 7

• Non-steroidal anti-inflammatory drugs (NSAIDs) can be used for short-term symptom relief.
• Encouragement of stretching and strengthening exercises, particularly for the quadriceps and hamstring muscles.
• In severe cases, temporary immobilization with a knee brace or cast may be necessary.