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Severe hypophosphataemia can be an early sign of osteopetrorickets: a case report
Artemis Doulgeraki1, Laura Bani-Odeh2, Despina Tramma2
1Department of Bone and Mineral Metabolism, Institute of Child Health, Athens, Greece.
Abstract:
Osteopetrorickets is a rare complication of autosomal recessive ("malignant") osteopetrosis. Its prompt diagnosis is essential, because early suspicion of infantile osteopetrosis enables treatment with human stem cell transplantation, depending on the gene involved. It is important to identify not only the characteristic radiological changes of rickets, but also the coexistence of increased bone density, so as not to miss this very rare entity. Herein, a brief case report is presented.
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