Ramos-Arroyo syndrome: Difference between revisions
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==Overview== | ==Overview== | ||
'''Ramos-Arroyo syndrome''' is marked by corneal [[anesthesia]], absence of the peripapillary [[choriocapillaris]] and [[retinal pigment epithelium]], bilateral [[sensorineural hearing loss]], unusual facial appearance, persistent [[ductus arteriosus]], [[Hirschsprung disease]], and moderate [[intellectual disability]].<ref>{{cite journal|last=Ramos-Arroyo|first=Maria A.|author2=Clark, G. Gregory |author3=Saksena, Sudha S. |author4=Modes, M. E. |author5=Opitz, John M. |author6=Reynolds, James F. |title=Congenital corneal anesthesia with retinal abnormalities, deafness, unusual facies, persistent ductus arteriosus, and mental retardation: A new syndrome?|journal=American Journal of Medical Genetics|date=1 February 1987|volume=26|issue=2|pages=345–354|doi=10.1002/ajmg.1320260213|pmid=2433942}}</ref> It appears to be a distinct [[Autosomal dominant#Autosomal versus sex-linked dominance|autosomal dominant]] syndrome with variable expressivity.<ref name="Spurrier">{{cite journal|last=Spurrier|first=Jamie L.|author2=Weaver, David D. |title=Ramos-Arroyo syndrome: Long-term follow-up of previously reported family|journal=American Journal of Medical Genetics Part A|date=15 March 2008|volume=146A|issue=6|pages=675–682|doi=10.1002/ajmg.a.32203|pmid=18241069}}</ref> | '''Ramos-Arroyo syndrome''' is marked by corneal [[anesthesia]], absence of the peripapillary [[choriocapillaris]] and [[retinal pigment epithelium]], bilateral [[sensorineural hearing loss]], unusual facial appearance, persistent [[ductus arteriosus]], [[Hirschsprung disease]], and moderate [[intellectual disability]].<ref>{{cite journal|last=Ramos-Arroyo|first=Maria A.|author2=Clark, G. Gregory |author3=Saksena, Sudha S. |author4=Modes, M. E. |author5=Opitz, John M. |author6=Reynolds, James F. |title=Congenital corneal anesthesia with retinal abnormalities, deafness, unusual facies, persistent ductus arteriosus, and mental retardation: A new syndrome?|journal=American Journal of Medical Genetics|date=1 February 1987|volume=26|issue=2|pages=345–354|doi=10.1002/ajmg.1320260213|pmid=2433942}}</ref> It appears to be a distinct [[Autosomal dominant#Autosomal versus sex-linked dominance|autosomal dominant]] syndrome with variable expressivity.<ref name="Spurrier">{{cite journal|last=Spurrier|first=Jamie L.|author2=Weaver, David D. |title=Ramos-Arroyo syndrome: Long-term follow-up of previously reported family|journal=American Journal of Medical Genetics Part A|date=15 March 2008|volume=146A|issue=6|pages=675–682|doi=10.1002/ajmg.a.32203|pmid=18241069}}</ref> | ||
As of 2008 this syndrome has only been reported in five individuals within three generations of the same family; two young children, their mother, their uncle and their maternal grandmother | ==Histopathology== | ||
This most recent generation to be diagnosed with Ramos-Arroyo syndrome supports the hypothesis that this disease is a distinct autosomal dominant disorder.As of 2008 this syndrome has only been reported in five individuals within three generations of the same family; two young children, their mother, their uncle and their maternal grandmother.<ref name="Spurrier"/> | |||
==References== | ==References== | ||
Revision as of 16:26, 23 December 2015
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief: Jyostna Chouturi, M.B.B.S [2]
Overview
Ramos-Arroyo syndrome is marked by corneal anesthesia, absence of the peripapillary choriocapillaris and retinal pigment epithelium, bilateral sensorineural hearing loss, unusual facial appearance, persistent ductus arteriosus, Hirschsprung disease, and moderate intellectual disability.[1] It appears to be a distinct autosomal dominant syndrome with variable expressivity.[2]
Histopathology
This most recent generation to be diagnosed with Ramos-Arroyo syndrome supports the hypothesis that this disease is a distinct autosomal dominant disorder.As of 2008 this syndrome has only been reported in five individuals within three generations of the same family; two young children, their mother, their uncle and their maternal grandmother.[2]
References
- ↑ Ramos-Arroyo, Maria A.; Clark, G. Gregory; Saksena, Sudha S.; Modes, M. E.; Opitz, John M.; Reynolds, James F. (1 February 1987). "Congenital corneal anesthesia with retinal abnormalities, deafness, unusual facies, persistent ductus arteriosus, and mental retardation: A new syndrome?". American Journal of Medical Genetics. 26 (2): 345–354. doi:10.1002/ajmg.1320260213. PMID 2433942.
- ↑ 2.0 2.1 Spurrier, Jamie L.; Weaver, David D. (15 March 2008). "Ramos-Arroyo syndrome: Long-term follow-up of previously reported family". American Journal of Medical Genetics Part A. 146A (6): 675–682. doi:10.1002/ajmg.a.32203. PMID 18241069.