A child who suffered a low energy fracture has a skeletal survey. This identified the following features: osteopenia, sabre tibia, coxa vara and wormi

Subject
Paediatrics
System
Rheumatology/Orthopedics & Sports

DianaZ

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A child who suffered a low energy fracture has a skeletal survey. This identified the following features: osteopenia, sabre tibia, coxa vara and wormian bones on skull radiographs. Which one of the following is the most likely diagnosis?

A. Cushing's disease
B. Hypothyroidism
C. Multiple osteochondromatosis
D. Osteogenesis imperfecta
E. Osteomalacia

Explanatory Notes:
The clinical presentation are all features of Osteogenesis Imperfecta (OI). Other causes of pathological fracture include infection and bone tumour. Non-accidental injury should always be a consideration when a fracture results from a seemingly 'low energy' history; it may be that the history and mechanism do not match.
 
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