Calvarial doughnut lesions-bone fragility syndrome

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Synonyms: Familial doughnut lesions of skull

A rare primary bone dysplasia with decreased bone density disorder characterized by multiple doughnut-shaped hyperostotic or osteosclerotic calvarial lesions (manifesting with cranial lumps) associated with numerous pathologic fractures elevated serum alkaline phosphatase levels and osteopenia.

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 June 2024

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Calvarial doughnut lesions-bone fragility syndrome?

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