Goldenhar syndrome: a rare diagnosis with possible prenatal findings

Detalhes bibliográficos
Autor(a) principal: Ribeiro, B
Data de Publicação: 2016
Outros Autores: Igreja, J, Gonçalves-Rocha, M, Cadilhe, A
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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spelling 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
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dc.language.iso.fl_str_mv eng
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dc.relation.none.fl_str_mv BMJ Case Rep. 2016 Jun 21;2016. pii: bcr2016215258.
10.1136/bcr-2016-215258
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