Hapnes Boman Skeie syndrome: Difference between revisions
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Revision as of 13:50, 31 May 2020
 | This article needs more links to other articles to help integrate it into the encyclopedia. (February 2017) |
| Hapnes Boman Skeie syndrome | |
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| Other names | Extensor tendons of finger anomalies[1] |
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| This condition is inherited in an autosomal dominant manner | |
Hapnes Boman Skeie syndrome is a rare genetic disorder first described by Sveln Hapnes et al. in 1980. It is characterized by subcutaneous angiolipomas around the wrists, knees, and ankles.[2] It is also known as "anomalous insertion of extensor tendons of fingers",[3] a name derived from the condition that the tendons of the fingers are attached in such a way that the fingers cannot open or close normally. Though the tumors extend deeply into the muscle tissue, joints, and tendons, the tumors did not invade these structures.[2]
References
- ^ RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: Extensor tendons of finger anomalies". www.orpha.net. Retrieved 24 October 2019.
{{cite web}}: CS1 maint: numeric names: authors list (link) - ^ a b Hapnes, Sveln A.; Boman, Helge; Seele, Sverre O. (March 1980). "Familial angiolipomatosis". Clinical Genetics. 17 (3): 202–208. doi:10.1111/j.1399-0004.1980.tb00133.x. PMID 7363507.
- ^ "Tendons, extensor, of fingers, anomalous insertion of". Genetic & Rare Diseases Information Center. Retrieved 2012-10-31.