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- Title
Osteopetrorickets: case report.
- Authors
Di Rocco, M.; Buoncompagni, A.; Loy, A.; Dellacqua, A.
- Abstract
<bold>Unlabelled: </bold>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.<bold>Conclusion: </bold>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.
- Subjects
RICKETS; NYSTAGMUS; OSTEOPOROSIS; INFANT diseases
- Publication
European Journal of Pediatrics, 2000, Vol 159, Issue 8, p579
- ISSN
0340-6199
- Publication type
journal article
- DOI
10.1007/s004310000485