Spot Diagnosis

Osteogenesis imperfecta



Question :
This child has multiple fractures.



What is the diagnosis?

Discussion :
Osteogenesis imperfecta. It is also known as Brittle Bone Disease. It is an autosomal dominant condition characterised by deficiency of Type-I collagen. There are eight types of OI, Type I being the most common, though the symptoms range from person to person. Patients present with multiple fractures, blue sclera and may have deafness. Bisphosphonates have been used to decrease the incidence of fracture.

Correct Answers : yes  0%

Last Shown : Sep 2008
 
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