European journal of pediatrics · 2000
Osteopetrorickets: case report.
Клинический случайСтатьяНазвание и аннотация: Перевод в очереди
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Di Rocco M, Buoncompagni A, Loy A, Dellacqua A
Аннотация
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.
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.