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PubMed · 10968234

Osteopetrorickets: case report.

M Di Rocco·A Buoncompagni·A Loy·A Dellacqua
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Abstract

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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Alkaline PhosphataseAnimalsBone DensityBone Marrow TransplantationCalciumConsanguinityDisease Models, AnimalFemaleHumansInfantMiceMutationNystagmus, PathologicOsteopetrosisParathyroid HormonePhosphorusRicketsRisk FactorsTomography, X-Ray ComputedVitamin DCase ReportsJournal Article

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M Di Rocco, A Buoncompagni, A Loy, A Dellacqua. 2000. Osteopetrorickets: case report.. https://doi.org/10.1007/s004310000485

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