Abstract
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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Received: 22 July 1999 / Accepted: 9 February 2000
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Di Rocco, M., Buoncompagni, A., Loy, A. et al. Osteopetrorickets: case report. Eur J Pediatr 159, 579–581 (2000). https://doi.org/10.1007/s004310000485
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DOI: https://doi.org/10.1007/s004310000485