Osteogenesis imperfecta

Case contributed by Dr Prashant Mudgal

Presentation

Failure to thrive, short stature, deformed limbs

Patient Data

Age: 9 years
Gender: Female
X-ray

This is a case of progressive deforming osteogenesis imperfecta. Long bones are showing generalized osteoporosis, thinned out cortex, severe deformity, multiple fractures with hyperplastic callus formation. Metacarpals, metatarsals and phalanges are overtubulated. There is basilar impression and vertebra plana.

Case Discussion

Typical appearances of osteogenesis imperfecta

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