Hyperostosis
Hyperostosis | |
ICD-10 | M85.8 |
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DiseasesDB | 30719 |
MeSH | D015576 |
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Hyperostosis is an excessive growth of bone. It may lead to exostosis. It occurs in many musculoskeletal disorders.
It is the thickening of the cortical bone.
Hyperphosphatemia-hyperostosis syndrome (HHS) is a rare autosomal recessive metabolic disorder characterized by elevated serum phosphate levels and radiological evidence of cortical hyperostosis.[1] HHS is caused by mutations in GALNT3.[2]
References
- ↑ Frishberg Y, Topaz O, Bergman R, Behar D, Fisher D, Gordon D, Richard G, Sprecher E (2005). "Identification of a recurrent mutation in GALNT3 demonstrates that hyperostosis-hyperphosphatemia syndrome and familial tumoral calcinosis are allelic disorders". J Mol Med. 83 (1): 33–8. PMID 15599692. Unknown parameter
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ignored (help) - ↑ Ichikawa S, Guigonis V, Imel EA, Courouble M, Heissat S, Henley JD, Sorenson AH, Petit B, Lienhardt A, Econs MJ (2007). "Novel GALNT3 mutations causing hyperostosis-hyperphosphatemia syndrome result in low intact fibroblast growth factor 23 concentrations". J Clin Endocrinol Metab. 92 (5): 1943–7. PMID 17311862. Unknown parameter
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ignored (help)