Osteogenesis imperfecta

Case contributed by Iqbal Naseem
Diagnosis certain

Presentation

A 15 day old female baby presented with deformed b/l lower limbs.

Patient Data

Age: 15 days
Gender: Female
x-ray

Radiograph b/l lower limbs in AP & Lat projections were taken.

Radiographs show multiple fractures involving bones of both lower limbs with callus formation. Bones appears deformed and shortened.  

Case Discussion

The appearance is in keeping with osteogenesis imperfecta, which is a collagen disorder, affecting bones and soft tissues. 

It is classified by Sillence into several subtypes of variable appearance and severity.

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