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dc.contributor.authorBlandón, Beatrizspa
dc.contributor.authorSerrano, Juan Cspa
dc.date.accessioned2020-10-27T14:21:10Z
dc.date.available2020-10-27T14:21:10Z
dc.date.issued2007-08-15
dc.identifier.issn2382-4603
dc.identifier.issn0123-7047
dc.identifier.urihttp://hdl.handle.net/20.500.12749/10348
dc.description.abstractEl síndrome de Cockayne es una enfermedad de origen hereditario, de transmisión autonómica recesiva de prevalencia poco conocida pero muy poco frecuente en Colombia. Su presencia ha sido de difícil reconocimiento pero sus características físicas son muy reconocibles. El diagnóstico temprano orienta al manejo de las patologías asociadas como cataratas, alteraciones en piel y desordenes de desarrollo neurológico. Su reconocimiento ayuda a las familias, médicos y sociedad a entender su apariencia caquéctica además de otras características de su fenotipo, facilita su manejo físico y psicológico previniendo morbimortalidad.[Blandón B, Serrano JC. Síndrome de Cockayne: informe de cuatro casos y revisión de la literatura. MedUNAB 2007; 10:133-136].spa
dc.format.mimetypeapplication/pdfspa
dc.language.isospaspa
dc.publisherUniversidad Autónoma de Bucaramanga UNAB
dc.relationhttps://revistas.unab.edu.co/index.php/medunab/article/view/115/102
dc.relation.urihttps://revistas.unab.edu.co/index.php/medunab/article/view/115
dc.rights.urihttp://creativecommons.org/licenses/by-nc-nd/2.5/co/
dc.sourceMedUNAB; Vol. 10 Núm. 2 (2007): Especial Oftalmología; 133-136
dc.subjectCiencias biomédicas
dc.subjectCiencias de la vida
dc.subjectInnovaciones en salud
dc.subjectInvestigaciones
dc.titleSíndrome de Cockayne: informe de cuatro casos y revisión de la literaturaspa
dc.title.translatedCockayne syndrome: report of four cases and review of the literatureeng
dc.publisher.facultyFacultad Ciencias de la Saludspa
dc.publisher.programPregrado Medicinaspa
dc.type.driverinfo:eu-repo/semantics/article
dc.type.localArtículospa
dc.type.coarhttp://purl.org/coar/resource_type/c_6501
dc.subject.keywordsHealth Scienceseng
dc.subject.keywordsMedicineeng
dc.subject.keywordsMedical Scienceseng
dc.subject.keywordsBiomedical Scienceseng
dc.subject.keywordsLife Scienceseng
dc.subject.keywordsInnovations in healtheng
dc.subject.keywordsResearcheng
dc.subject.keywordsCockayne syndromeeng
dc.subject.keywordsCataracteng
dc.subject.keywordsEnophthalmuseng
dc.identifier.instnameinstname:Universidad Autónoma de Bucaramanga UNABspa
dc.type.hasversionInfo:eu-repo/semantics/publishedVersion
dc.type.hasversioninfo:eu-repo/semantics/acceptedVersionspa
dc.rights.accessrightsinfo:eu-repo/semantics/openAccessspa
dc.relation.referencesCockayne EA. Dwarfism with retinal atrophy and deaf-ness. Arch Dis Child 1936; 11:1-8spa
dc.relation.referencesLehmann AR. The xeroderma pigmentosum group D (XPD) gene: one gene, two functions, three diseases. Genes Dev 2001; 15:15-23spa
dc.relation.referencesJones N. Smith's recognizable patterns of human malfo-mation. London: Elsevier Saunders, 6 ed, 2006:154-5spa
dc.relation.referencesGorlin RJ, Cohen MM, Hennekam RCM. Syndromes of the head and neck. Oxford: Oxford Universitiy Press, 4 ed, 2001:596-600spa
dc.relation.referencesRimoin DL, Connor JM, Emery and Rimoin's principles and practice of medical genetics. London: Churchill Livingstone, 5 ed, 2006:3944-5spa
dc.relation.referencesNaupane A. Basneyt S, Manandhar J. Cockayne syndro-me. J Neurosc 2005; 25:140-1spa
dc.relation.referencesPasquier L, Laugel V, Lazaro L, Dolfus H, Edery P, Goldneberg A, et al. Wide clinical variability among 13 new Cockayne syndrome cases confirmed by bioche-mical assays. Arch Dis Child 2006; 91:178-82spa
dc.relation.referencesKaram S, Costa J, Jardim L, Pires R, Lehmann A, Giu-gliani R. Cockayne syndrome: report of a Brazilian family with confirmation of impaired RNAsysthesis after UV radiation. Gen Mol Biol 2000; 23:273-5spa
dc.relation.referencesLindenbaum Y, Dickinson DW, Rosembaum PS, Krae-mer KH, Robbins JH, Rapin I. Xeroderma pigmentosum-Cockayne syndrome complex: first neuropathological study and review of eight other cases. Eur Jspa
dc.subject.lembMedicinaspa
dc.subject.lembCiencias de la saludspa
dc.subject.lembCiencias médicasspa
dc.identifier.repourlrepourl:https://repository.unab.edu.co
dc.description.abstractenglishCockayne syndrome is a disease of hereditary origin, of recessive autonomic transmission of little known prevalence but very rare in Colombia. Its presence has been difficult to recognize but its physical characteristics are very recognizable. Early diagnosis guides the management of associated pathologies such as cataracts, skin disorders and neurological development disorders. Its recognition helps families, doctors and society to understand their cachectic appearance in addition to other characteristics of their phenotype, facilitating their physical and psychological management, preventing morbidity and mortality.[Blandón B, Serrano JC. Cockayne syndrome: report of four cases and review of the literature. MedUNAB 2007; 10:133-136].eng
dc.subject.proposalSíndrome de Cockaynespa
dc.subject.proposalCataratasspa
dc.subject.proposalCaries dentalesspa
dc.subject.proposalEnoftalmusspa
dc.type.redcolhttp://purl.org/redcol/resource_type/ART


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