Goldenhar syndrome: a rare diagnosis with possible prenatal findings
Autor(a) principal: | |
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Data de Publicação: | 2016 |
Outros Autores: | , , |
Tipo de documento: | Artigo |
Idioma: | eng |
Título da fonte: | Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
Texto Completo: | http://hdl.handle.net/10400.23/1057 |
Resumo: | Goldenhar syndrome is a rare congenital disease associated with hemifacial hypoplasia as well as ear and ocular defects. Sometimes it is also associated with vertebral and other bone defects, cardiac malformations and central nervous system anomalies. Its aetiology is not yet clarified in the literature. We present a case of multiple malformations detected in the morphology ultrasound (at 22 weeks of gestation), namely absent nasal bones, micrognathia and absent left radius, among other defects. Genetic counselling, fetal brain MRI and cardiac sonography, which showed ventricular septal defect, were performed. 11 syndromes with poor fetal or neonatal prognosis were identified as possible diagnosis, using a genetic database and the couple asked for a medical termination of pregnancy. Postmortem examination has shown features consistent with Goldenhar syndrome. |
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Goldenhar syndrome: a rare diagnosis with possible prenatal findingsSíndrome de GoldenharGoldenhar syndrome is a rare congenital disease associated with hemifacial hypoplasia as well as ear and ocular defects. Sometimes it is also associated with vertebral and other bone defects, cardiac malformations and central nervous system anomalies. Its aetiology is not yet clarified in the literature. We present a case of multiple malformations detected in the morphology ultrasound (at 22 weeks of gestation), namely absent nasal bones, micrognathia and absent left radius, among other defects. Genetic counselling, fetal brain MRI and cardiac sonography, which showed ventricular septal defect, were performed. 11 syndromes with poor fetal or neonatal prognosis were identified as possible diagnosis, using a genetic database and the couple asked for a medical termination of pregnancy. Postmortem examination has shown features consistent with Goldenhar syndrome.Repositório Científico do Hospital de BragaRibeiro, BIgreja, JGonçalves-Rocha, MCadilhe, A2016-07-15T13:13:53Z2016-01-01T00:00:00Z2016-01-01T00:00:00Zinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleapplication/pdfhttp://hdl.handle.net/10400.23/1057engBMJ Case Rep. 2016 Jun 21;2016. pii: bcr2016215258.10.1136/bcr-2016-215258info:eu-repo/semantics/openAccessreponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãoinstacron:RCAAP2022-09-21T09:02:52Zoai:repositorio.hospitaldebraga.pt:10400.23/1057Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-19T15:55:37.516696Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãofalse |
dc.title.none.fl_str_mv |
Goldenhar syndrome: a rare diagnosis with possible prenatal findings |
title |
Goldenhar syndrome: a rare diagnosis with possible prenatal findings |
spellingShingle |
Goldenhar syndrome: a rare diagnosis with possible prenatal findings Ribeiro, B Síndrome de Goldenhar |
title_short |
Goldenhar syndrome: a rare diagnosis with possible prenatal findings |
title_full |
Goldenhar syndrome: a rare diagnosis with possible prenatal findings |
title_fullStr |
Goldenhar syndrome: a rare diagnosis with possible prenatal findings |
title_full_unstemmed |
Goldenhar syndrome: a rare diagnosis with possible prenatal findings |
title_sort |
Goldenhar syndrome: a rare diagnosis with possible prenatal findings |
author |
Ribeiro, B |
author_facet |
Ribeiro, B Igreja, J Gonçalves-Rocha, M Cadilhe, A |
author_role |
author |
author2 |
Igreja, J Gonçalves-Rocha, M Cadilhe, A |
author2_role |
author author author |
dc.contributor.none.fl_str_mv |
Repositório Científico do Hospital de Braga |
dc.contributor.author.fl_str_mv |
Ribeiro, B Igreja, J Gonçalves-Rocha, M Cadilhe, A |
dc.subject.por.fl_str_mv |
Síndrome de Goldenhar |
topic |
Síndrome de Goldenhar |
description |
Goldenhar syndrome is a rare congenital disease associated with hemifacial hypoplasia as well as ear and ocular defects. Sometimes it is also associated with vertebral and other bone defects, cardiac malformations and central nervous system anomalies. Its aetiology is not yet clarified in the literature. We present a case of multiple malformations detected in the morphology ultrasound (at 22 weeks of gestation), namely absent nasal bones, micrognathia and absent left radius, among other defects. Genetic counselling, fetal brain MRI and cardiac sonography, which showed ventricular septal defect, were performed. 11 syndromes with poor fetal or neonatal prognosis were identified as possible diagnosis, using a genetic database and the couple asked for a medical termination of pregnancy. Postmortem examination has shown features consistent with Goldenhar syndrome. |
publishDate |
2016 |
dc.date.none.fl_str_mv |
2016-07-15T13:13:53Z 2016-01-01T00:00:00Z 2016-01-01T00:00:00Z |
dc.type.status.fl_str_mv |
info:eu-repo/semantics/publishedVersion |
dc.type.driver.fl_str_mv |
info:eu-repo/semantics/article |
format |
article |
status_str |
publishedVersion |
dc.identifier.uri.fl_str_mv |
http://hdl.handle.net/10400.23/1057 |
url |
http://hdl.handle.net/10400.23/1057 |
dc.language.iso.fl_str_mv |
eng |
language |
eng |
dc.relation.none.fl_str_mv |
BMJ Case Rep. 2016 Jun 21;2016. pii: bcr2016215258. 10.1136/bcr-2016-215258 |
dc.rights.driver.fl_str_mv |
info:eu-repo/semantics/openAccess |
eu_rights_str_mv |
openAccess |
dc.format.none.fl_str_mv |
application/pdf |
dc.source.none.fl_str_mv |
reponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação instacron:RCAAP |
instname_str |
Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação |
instacron_str |
RCAAP |
institution |
RCAAP |
reponame_str |
Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
collection |
Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
repository.name.fl_str_mv |
Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação |
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1799130425121046528 |