Hyperostosis: Difference between revisions
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It is the thickening of the cortical bone. | 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.<ref name=Frishberg>{{ cite journal |author=Frishberg Y, Topaz O, Bergman R, Behar D, Fisher D, Gordon D, Richard G, Sprecher E |title=Identification of a recurrent mutation in GALNT3 demonstrates that hyperostosis-hyperphosphatemia syndrome and familial tumoral calcinosis are allelic disorders |journal=J Mol Med. |year=2005 |month=Jan |volume=83 |issue=1 |pages=33-8 |pmid=15599692 }}</ref> | Hyperphosphatemia-hyperostosis syndrome (HHS) is a rare autosomal recessive metabolic disorder characterized by elevated serum phosphate levels and radiological evidence of cortical hyperostosis.<ref name=Frishberg>{{ cite journal |author=Frishberg Y, Topaz O, Bergman R, Behar D, Fisher D, Gordon D, Richard G, Sprecher E |title=Identification of a recurrent mutation in GALNT3 demonstrates that hyperostosis-hyperphosphatemia syndrome and familial tumoral calcinosis are allelic disorders |journal=J Mol Med. |year=2005 |month=Jan |volume=83 |issue=1 |pages=33-8 |pmid=15599692 }}</ref> HHS is caused by mutations in GALNT3.<ref name=Ichikawa>{{ cite journal |author=Ichikawa S, Guigonis V, Imel EA, Courouble M, Heissat S, Henley JD, Sorenson AH, Petit B, Lienhardt A, Econs MJ |title=Novel GALNT3 mutations causing hyperostosis-hyperphosphatemia syndrome result in low intact fibroblast growth factor 23 concentrations |journal=J Clin Endocrinol Metab. |year=2007 |month=May |volume=92 |issue=5 |pages=1943-7 |pmid=17311862 }}</ref> | ||
=References= | =References= | ||
Revision as of 20:19, 10 May 2009
| 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
|month=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
|month=ignored (help)