Intermediate osteopetrosis

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Synonyms: Autosomal recessive intermediate osteopetrosis

A rare genetic primary bone dysplasia with increased bone density characterized by susceptibility to fractures after minor trauma anemia and characteristic skeletal radiographic changes such as sandwich vertebra bone-within-bone appearance Erlenmeyer-shaped femoral metaphysis and mild osteosclerosis of the skull base. Dental anomalies and visual impairment secondary to optic nerve compression have been rarely described.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version May 2024

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Intermediate osteopetrosis?

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