Osteogenesis imperfecta

Question 1

What is Osteogenesis imperfecta?

Answer 1

Osteogenesis imperfecta is an autosomal dominant causing increased fragility of bone. It principally affects those tissues containing type 1 collagen e.g, bone and teeth. It also affects sclerae, joints, tendons, heart valves and skin.

Question 2

What will you find on a history taking of osteogenesis imperfecta

Answer 2

Symptoms:
Fractures/Deformity  
Blue Sclera 
Heart Problems - Aortic incompetence, aortic root widening and mitral valve prolapse
hyper-mobility of joints, with flat feet

Differentials:
Children - Non-accidental injury
In children/adults - idiopathic juvenile osteoporosis.

Question 3

What investigations will you order in osteogenesis imperfecta?

Answer 3

Severe cases - Normally picked up in 2nd trimester by prenatal US scan

Imaging:
X-Ray of affected bone

Special tests:
Bone densitometry
Genetic testing

Question 4

What is the treatment of osteogenesis imperfecta?

Answer 4

Physiotherapy
Rehabilitation

Medical:
Iv Bisphoshponates

Surgical:
Intramedullary rod placement, surgery to manage basilar compression and correction of scoliosis.

Question 5

What will you find on exmainaiton

Answer 5

End of the bed:
Short stature if affected from birth
Defects like scoliosis etc
Hypermobliitly

Face:
Blue Sclera

Legs:
Flat feet
Long bone/Tibial bowing