Medicine:Combarros–Calleja–Leno syndrome
From HandWiki
| Combarros–Calleja–Leno syndrome | |
|---|---|
| Other names | Freidreich's ataxia and congenital glaucoma |
 | |
| Specialty | Medical genetics |
| Causes | Suspected pleiotropy |
| Prognosis | Medium |
| Frequency | very rare, only 7 cases from a consanguineous Spanish family have been reported |
| Deaths | - |
Combarros–Calleja–Leno syndrome is a very rare genetic disorder which is characterized by a combination of ataxia indistinguishable from Friedreich's ataxia and congenital glaucoma.[1] Additional findings include pes cavus and generalized areflexia.[2] It has been described in 7 members from a consanguineous Spain family.[3]
See also
- Congenital glaucoma
- Friedreich's ataxia
References
- ↑ Combarros, O.; Calleja, J.; Leno, C.; Berciano, J. (1988-01-01). "Association of an ataxia indistinguishable from Friedreich's ataxia and congenital glaucoma in a family: a new syndrome." (in en). Journal of Medical Genetics 25 (1): 44–46. doi:10.1136/jmg.25.1.44. ISSN 0022-2593. PMID 3351891. PMC 1015422. https://jmg.bmj.com/content/25/1/44.
- ↑ "OMIM Entry - 229310 - FRIEDREICH ATAXIA AND CONGENITAL GLAUCOMA" (in en-us). https://www.omim.org/entry/229310#1.
- ↑ Combarros, O.; Calleja, J.; Leno, C.; Berciano, J. (January 1988). "Association of an ataxia indistinguishable from Friedreich's ataxia and congenital glaucoma in a family: a new syndrome". Journal of Medical Genetics 25 (1): 44–46. doi:10.1136/jmg.25.1.44. ISSN 0022-2593. PMID 3351891.
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