Retinal Dystrophy in the Cardiofaciocutaneous Syndrome

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dc.contributor.author Dunya, Ibrahim
dc.contributor.author Hoon, Alexander
dc.contributor.author Traboulsi, Elias
dc.date.accessioned 2016-06-16T05:31:25Z
dc.date.available 2016-06-16T05:31:25Z
dc.date.copyright 1993 en_US
dc.date.issued 2016-06-16
dc.identifier.issn 0191-3913 en_US
dc.identifier.uri http://hdl.handle.net/10725/4060
dc.description.abstract The cardiofaciocutaneous syndrome was first described by Reynolds and co-workers in 1986. x Patients have a characteristic facial appearance, mental retardation, abnormal skin and hair, and congenital heart disease. Typical facial characteristics consist of a high forehead with bitemporal narrowing, downslanting of the palpebral fissures, a depressed nasal bridge, and posteriorly rotated ears with prominent helices. Poor vision, ptosis, strabismus, nystagmus, and optic atrophy have been noted in some of the cases reported to date.2 No specific etiology for the poor vision, nystagmus, or strabismus in this syndrome has been established, although optic atrophy and central nervous system dysfunction may be contributory factors. en_US
dc.language.iso en en_US
dc.title Retinal Dystrophy in the Cardiofaciocutaneous Syndrome en_US
dc.type Article en_US
dc.description.version Published en_US
dc.author.school SOM en_US
dc.author.idnumber 200902712 en_US
dc.author.department N/A en_US
dc.description.embargo N/A en_US
dc.relation.journal Journal of Pediatric Ophthalmology and Strabismus en_US
dc.journal.volume 30 en_US
dc.journal.issue 4 en_US
dc.article.pages 264-265 en_US
dc.identifier.doi http://dx.doi.org/10.3928/0191-3913-19930701-11 en_US
dc.identifier.ctation Dunya, I., Hoon, A., & Traboulsi, E. I. (1993). Retinal dystrophy in the cardiofaciocutaneous syndrome. Journal of pediatric ophthalmology and strabismus, 30(4), 264-265. en_US
dc.author.email ibrahim.dunya@lau.edu.lb en_US
dc.identifier.tou http://libraries.lau.edu.lb/research/laur/terms-of-use/articles.php en_US
dc.identifier.url http://www.healio.com/ophthalmology/journals/jpos/1993-7-30-4/%7Bf217846c-5353-40cc-a660-0b7a44f301ac%7D/retinal-dystrophy-in-the-cardiofaciocutaneous-syndrome en_US

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