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An uncommon autosomal recessive bone dysplasia characterized by generalized osteosclerosis and hyperostosis of the skeleton, affecting mainly the skull and mandible and leading to facial paralysis and hearing loss. Caused by mutation in the coding region of the gene for sclerostin. Unlike van Buchem's disease, in which there is downregulation of sclerostin production, there are gigantism and hand abnormalities.

Subjects: Medicine and Health.

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