Osteopetrorickets: Case report

M. Di Rocco, A. Buoncompagni, A. Loy, A. Dellacqua

Research output: Contribution to journalArticlepeer-review


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.

Original languageEnglish
Pages (from-to)579-581
Number of pages3
JournalEuropean Journal of Pediatrics
Issue number8
Publication statusPublished - 2000


  • Osteopetrosis
  • Rickets

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health


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