Case contributed by Dr Jeremy Jones


Increaesd work of breathing. Dysmorphic features.

Patient Data

Age: 3 weeks
Gender: Male

The chest is clear, but the bones are all abnormal. They are clearly more dense than they should be.


The skeletal survey confirms a widespread systemic process that has caused increase in bone density. Features here are of osteopetrosis.

Case Discussion

The skeletal changes in osteopetrosis can range from subtle to profound (as in this case). 

While the bones are dense, they are brittle resulting in predisposition to fracture. When they do fracture, bone healing is delayed. In older patients, bone pain may be a presenting complaint, even in the absence of fracture.

Bone overgrowth around the base of skull results in narrowing of the foramina and neural compression.

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Case information

rID: 24396
Case created: 12th Aug 2013
Last edited: 9th Aug 2017
Inclusion in quiz mode: Included

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