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Virtual Pediatric Hospital: Paediapaedia: Osteopetrosis Paediapaedia: Musculoskeletal Diseases

Osteopetrosis

Michael P. D'Alessandro, M.D.
Peer Review Status: Internally Peer Reviewed


Clinical Presentation:
The infantile or malignant form presents in infancy with short stature and failure to thrive, hepatosplenomegaly, anemia, increased susceptibility to infection, an enlarged head associated with hydrocephalus, developmental delay, optic atrophy, facial paresis, delayed dentition and anemia due to bone marrow compromise. Most die in the first decade. There is a later form which is less severe and has a more benign course.

Etiology/Pathophysiology:
Have a persistently calcified cartilaginous matrix, poorly formed and absent medullary cavities, poorly differentiated compact bone, and spongiosa that is solid bone.

Pathology:
Not applicable

Imaging Findings:
On plain film homogeneous increased bone density is seen. The bones have a marbled appearance and sometimes can have a "bone within a bone" appearance. The lower extremities have a lack of normal metaphyseal tubularization causing club shaped metaphyses, and there arcuate bands of increased bone density around iliac wings.The paranasal sinuses are often obliterated

DDX:
Generalized osteosclerosis:

References:
See References Chapter.

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