Osteopetrorickets: case report
Related Experiment Video
Updated: Jul 15, 2026

Endaural Endoscopic Atticoantrotomy (Retrograde Mastoidectomy) using a Constant Suction Bone-drilling Technique
Published on: May 23, 2021
M Di Rocco1, A Buoncompagni, A Loy
1Istituto G. Gaslini, Pediatria II, Largo G Gaslini, Genova, Italy. majadirocco@ospedale-gaslini.ge.it
Unlabelled:
We report the case of a baby girl who presented with rickets at 3 months. At the age of 5 months she was readmitted because of nystagmus and a diagnosis of osteopetrosis was made on the basis of clinical and radiological findings. Rickets is a paradoxical feature of osteopetrosis resulting from inability to maintain a normal calcium-phosphorus balance. In our patient the onset of rickets before other symptoms of osteopetrosis suggests a primary defect.
Conclusion:
It is possible that patients with osteopetrosis and rickets (osteopetrorickets) represent a different mutation like the osteopetrosis mouse, which is the only animal mutation with rickets.
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