Cockayne’s syndrome: report of two cases [Abstract in English]

Detalhes bibliográficos
Autor(a) principal: Resende, Catarina Teixeira
Data de Publicação: 2012
Outros Autores: Loureiro, Susana, Cardoso, Elisa, Fonseca, Sofia, Sá, Joaquim, Simões, Fátima
Tipo de documento: Artigo
Idioma: por
eng
Título da fonte: Scientia Medica (Porto Alegre. Online)
Texto Completo: https://revistaseletronicas.pucrs.br/scientiamedica/article/view/11360
Resumo: AIMS: To report cases of Cockayne syndrome in two siblings, describing the clinical presentation and evolution. CASE DESCRIPTION: We describe the cases of two siblings, an 8 years old girl and a 13 years old boy, both with global developmental disability, microcephaly, dwarfism and peculiar facies (triangular face, microphthalmia, microstomia and micrognathia). New problems emerged during follow-up: sensorineural hearing loss, hypermetropia and photosensitivity. Clinical features suggested Cockayne syndrome, which was confirmed by molecular genetic testing. CONCLUSIONS: Cockayne’s syndrome is a rare (1/100,000), recessive autosomal disorder. Its diagnosis may be delayed because the signs and symptoms arise gradually and slowly. Obtaining the diagnostic criteria can take years and clinical suspicion is extremely important.
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spelling Cockayne’s syndrome: report of two cases [Abstract in English]Síndrome de Cockayne: relato de dois casosCockayne SyndromeGenetic TestingDevelopmental DisabilitiesDwarfismFacies.Síndrome De CockayneTestes GenéticosDeficiências Do DesenvolvimentoNanismoFacies.AIMS: To report cases of Cockayne syndrome in two siblings, describing the clinical presentation and evolution. CASE DESCRIPTION: We describe the cases of two siblings, an 8 years old girl and a 13 years old boy, both with global developmental disability, microcephaly, dwarfism and peculiar facies (triangular face, microphthalmia, microstomia and micrognathia). New problems emerged during follow-up: sensorineural hearing loss, hypermetropia and photosensitivity. Clinical features suggested Cockayne syndrome, which was confirmed by molecular genetic testing. CONCLUSIONS: Cockayne’s syndrome is a rare (1/100,000), recessive autosomal disorder. Its diagnosis may be delayed because the signs and symptoms arise gradually and slowly. Obtaining the diagnostic criteria can take years and clinical suspicion is extremely important.OBJETIVOS: Relatar casos de síndrome de Cockayne em dois irmãos, descrevendo a apresentação e a evolução clínica. DESCRIÇÃO DOS CASOS: Apresentam-se os casos de dois irmãos, uma menina de 8 anos e um menino de 13 anos, ambos com deficiência global do desenvolvimento, microcefalia, nanismo e facies peculiar (face triangular, microftalmia, microstomia e micrognatia). No seguimento, surgiram novos problemas, como surdez neurossensorial, hipermetropia e fotossensibilidade. Pela clínica foi sugerida a hipótese de síndrome de Cockayne, que foi confirmada por teste genético molecular. CONCLUSÕES: A síndrome de Cockayne é um distúrbio raro (1/100.000), autossômico recessivo. Seu diagnóstico pode ser moroso, pois os sinais e sintomas vão surgindo progressiva e lentamente. A conjugação dos critérios de diagnóstico pode levar anos, sendo de extrema importância a suspeição clínica.Editora da PUCRS - ediPUCRS2012-12-21info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionRelato de caso raro ou de especial interesseapplication/pdfapplication/pdfhttps://revistaseletronicas.pucrs.br/scientiamedica/article/view/11360Scientia Medica; Vol. 22 No. 4 (2012); 211-215Scientia Medica; v. 22 n. 4 (2012); 211-2151980-61081806-5562reponame:Scientia Medica (Porto Alegre. Online)instname:Pontifícia Universidade Católica do Rio Grande do Sul (PUCRS)instacron:PUC_RSporenghttps://revistaseletronicas.pucrs.br/scientiamedica/article/view/11360/8626https://revistaseletronicas.pucrs.br/scientiamedica/article/view/11360/8627Resende, Catarina TeixeiraLoureiro, SusanaCardoso, ElisaFonseca, SofiaSá, JoaquimSimões, Fátimainfo:eu-repo/semantics/openAccess2013-07-15T18:01:11Zoai:ojs.revistaseletronicas.pucrs.br:article/11360Revistahttps://revistaseletronicas.pucrs.br/scientiamedica/PUBhttps://revistaseletronicas.pucrs.br/scientiamedica/oaiscientiamedica@pucrs.br || editora.periodicos@pucrs.br1980-61081806-5562opendoar:2013-07-15T18:01:11Scientia Medica (Porto Alegre. Online) - Pontifícia Universidade Católica do Rio Grande do Sul (PUCRS)false
dc.title.none.fl_str_mv Cockayne’s syndrome: report of two cases [Abstract in English]
Síndrome de Cockayne: relato de dois casos
title Cockayne’s syndrome: report of two cases [Abstract in English]
spellingShingle Cockayne’s syndrome: report of two cases [Abstract in English]
Resende, Catarina Teixeira
Cockayne Syndrome
Genetic Testing
Developmental Disabilities
Dwarfism
Facies.
Síndrome De Cockayne
Testes Genéticos
Deficiências Do Desenvolvimento
Nanismo
Facies.
title_short Cockayne’s syndrome: report of two cases [Abstract in English]
title_full Cockayne’s syndrome: report of two cases [Abstract in English]
title_fullStr Cockayne’s syndrome: report of two cases [Abstract in English]
title_full_unstemmed Cockayne’s syndrome: report of two cases [Abstract in English]
title_sort Cockayne’s syndrome: report of two cases [Abstract in English]
author Resende, Catarina Teixeira
author_facet Resende, Catarina Teixeira
Loureiro, Susana
Cardoso, Elisa
Fonseca, Sofia
Sá, Joaquim
Simões, Fátima
author_role author
author2 Loureiro, Susana
Cardoso, Elisa
Fonseca, Sofia
Sá, Joaquim
Simões, Fátima
author2_role author
author
author
author
author
dc.contributor.author.fl_str_mv Resende, Catarina Teixeira
Loureiro, Susana
Cardoso, Elisa
Fonseca, Sofia
Sá, Joaquim
Simões, Fátima
dc.subject.por.fl_str_mv Cockayne Syndrome
Genetic Testing
Developmental Disabilities
Dwarfism
Facies.
Síndrome De Cockayne
Testes Genéticos
Deficiências Do Desenvolvimento
Nanismo
Facies.
topic Cockayne Syndrome
Genetic Testing
Developmental Disabilities
Dwarfism
Facies.
Síndrome De Cockayne
Testes Genéticos
Deficiências Do Desenvolvimento
Nanismo
Facies.
description AIMS: To report cases of Cockayne syndrome in two siblings, describing the clinical presentation and evolution. CASE DESCRIPTION: We describe the cases of two siblings, an 8 years old girl and a 13 years old boy, both with global developmental disability, microcephaly, dwarfism and peculiar facies (triangular face, microphthalmia, microstomia and micrognathia). New problems emerged during follow-up: sensorineural hearing loss, hypermetropia and photosensitivity. Clinical features suggested Cockayne syndrome, which was confirmed by molecular genetic testing. CONCLUSIONS: Cockayne’s syndrome is a rare (1/100,000), recessive autosomal disorder. Its diagnosis may be delayed because the signs and symptoms arise gradually and slowly. Obtaining the diagnostic criteria can take years and clinical suspicion is extremely important.
publishDate 2012
dc.date.none.fl_str_mv 2012-12-21
dc.type.driver.fl_str_mv info:eu-repo/semantics/article
info:eu-repo/semantics/publishedVersion
Relato de caso raro ou de especial interesse
format article
status_str publishedVersion
dc.identifier.uri.fl_str_mv https://revistaseletronicas.pucrs.br/scientiamedica/article/view/11360
url https://revistaseletronicas.pucrs.br/scientiamedica/article/view/11360
dc.language.iso.fl_str_mv por
eng
language por
eng
dc.relation.none.fl_str_mv https://revistaseletronicas.pucrs.br/scientiamedica/article/view/11360/8626
https://revistaseletronicas.pucrs.br/scientiamedica/article/view/11360/8627
dc.rights.driver.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv application/pdf
application/pdf
dc.publisher.none.fl_str_mv Editora da PUCRS - ediPUCRS
publisher.none.fl_str_mv Editora da PUCRS - ediPUCRS
dc.source.none.fl_str_mv Scientia Medica; Vol. 22 No. 4 (2012); 211-215
Scientia Medica; v. 22 n. 4 (2012); 211-215
1980-6108
1806-5562
reponame:Scientia Medica (Porto Alegre. Online)
instname:Pontifícia Universidade Católica do Rio Grande do Sul (PUCRS)
instacron:PUC_RS
instname_str Pontifícia Universidade Católica do Rio Grande do Sul (PUCRS)
instacron_str PUC_RS
institution PUC_RS
reponame_str Scientia Medica (Porto Alegre. Online)
collection Scientia Medica (Porto Alegre. Online)
repository.name.fl_str_mv Scientia Medica (Porto Alegre. Online) - Pontifícia Universidade Católica do Rio Grande do Sul (PUCRS)
repository.mail.fl_str_mv scientiamedica@pucrs.br || editora.periodicos@pucrs.br
_version_ 1809101750014050304

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