Fetal Skeletal Lethal Dysplasia: Case Report
Autor(a) principal: | |
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Data de Publicação: | 2017 |
Outros Autores: | , , |
Tipo de documento: | Artigo |
Idioma: | por |
Título da fonte: | Repositório Institucional da FIOCRUZ (ARCA) |
Texto Completo: | https://www.arca.fiocruz.br/handle/icict/40014 |
Resumo: | This case report and photographic documentation were approved for publication by the Ethical Committee Board of one of our institutions, under protocol numbers CAAE 0022.0.008.000–08 (osteogenesis imperfecta) and CAEE 59488716.1.1001.5269 (ECLAMC). |
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Savoldi, Alexandre MelloVillar, Maria Auxiliadora MonteiroMachado, Heloisa NovaesLlerena Junior, Juan Clinton2020-02-17T17:51:47Z2020-02-17T17:51:47Z2017SAVOLDI, Alexandre Mello et al. Fetal Skeletal Lethal Dysplasia: Case Report. RBGO Gynecology and Obstetrics, v. 39, n. 10, p. 576-582, Oct. 2017.0100-7203https://www.arca.fiocruz.br/handle/icict/4001410.1055/s-0037-16039431806-9339This case report and photographic documentation were approved for publication by the Ethical Committee Board of one of our institutions, under protocol numbers CAAE 0022.0.008.000–08 (osteogenesis imperfecta) and CAEE 59488716.1.1001.5269 (ECLAMC).O manejo clínico e a tomada de decisões médicas em gestantes com suspeita de malformação letal em um feto no período pré-natal, tal qual uma displasia esquelética letal, demandam uma abordagem multidisciplinar coordenada por um médico experiente. Baseado na apresentação de um caso de osteogênese imperfeita tipo IIA, recomendações são apresentadas e discutidas com a intenção de organizar as investigações clínicas e laboratoriais visando o manejo clínico, o prognóstico, e o diagnóstico etiológico dessas malformações, e o aconselhamento genético para as pacientes que desejam engravidar.The clinical management and decision-making in pregnancies in which there is suspicion of lethal fetal malformations during the prenatal period, such as lethal skeletal dysplasia (SD), demand a multidisciplinary approach coordinated by an experienced physician. Based on the presentation of a case of osteogenesis imperfecta type IIA, we offer and discuss recommendations with the intention of organizing clinical and laboratory investigations aiming toward the clinical management, prognosis, and etiological diagnosis of these malformations, as well as genetic counselling to patients who wish to become pregnant.Oswaldo Cruz Foundation. Fernandes Figueira Institute. Center for Medical Genetics and Center for Rare Diseases. Rio de Janeiro, RJ, Brazil / Oswaldo Cruz Foundation. Fernandes Figueira Institute. Latin American Collaborative Study of Congenital Malformations. Rio de Janeiro, RJ, Brazil / Oswaldo Cruz Foundation. Fernandes Figueira Institute. Reference Center for Osteogenesis Imperfecta. Rio de Janeiro, RJ, Brazil.Oswaldo Cruz Foundation. Fernandes Figueira Institute. Center for Medical Genetics and Center for Rare Diseases. Rio de Janeiro, RJ, Brazil / Oswaldo Cruz Foundation. Fernandes Figueira Institute. Latin American Collaborative Study of Congenital Malformations. Rio de Janeiro, RJ, Brazil / Oswaldo Cruz Foundation. Fernandes Figueira Institute. Reference Center for Osteogenesis Imperfecta. Rio de Janeiro, RJ, Brazil.Oswaldo Cruz Foundation. Fernandes Figueira Institute. Latin American Collaborative Study of Congenital Malformations. Rio de Janeiro, RJ, Brazil / Oswaldo Cruz Foundation. Fernandes Figueira Institute. Pathological Anatomy Service. Rio de Janeiro, RJ, Brasil.Oswaldo Cruz Foundation. Fernandes Figueira Institute. Center for Medical Genetics and Center for Rare Diseases. Rio de Janeiro, RJ, Brazil / Oswaldo Cruz Foundation. Fernandes Figueira Institute. Latin American Collaborative Study of Congenital Malformations. Rio de Janeiro, RJ, Brazil / Oswaldo Cruz Foundation. Fernandes Figueira Institute. Reference Center for Osteogenesis Imperfecta. Rio de Janeiro, RJ, Brazil / Instituto Nacional de Genética Médica Populacional. Rio de Janeiro, RJ, Brazil / Fundação Arthur Sá Erp. Faculdade de Medicina de Petrópolis. Rio de Janeiro, RJ, Brazil.porThieme Medical PublishersCase ReportsReviewAdultFatal OutcomeFemaleFetal Diseases/diagnosisGravidezDisplasia esqueléticaOsteogênese imperfeitaPeríodo pré-natalSíndromes genéticasPregnancySkeletal dysplasiaOsteogenesis imperfectaPrenatal periodGenetic syndromesHumansOsteogenesis Imperfecta/diagnosisPhenotypePregnancyFetal Skeletal Lethal Dysplasia: Case Reportinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleinfo:eu-repo/semantics/openAccessreponame:Repositório Institucional da FIOCRUZ (ARCA)instname:Fundação Oswaldo Cruz (FIOCRUZ)instacron:FIOCRUZLICENSElicense.txtlicense.txttext/plain; charset=utf-82991https://www.arca.fiocruz.br/bitstream/icict/40014/1/license.txt5a560609d32a3863062d77ff32785d58MD51ORIGINALFetal Skeletal Lethal Dysplasia - Case Report..pdfFetal Skeletal Lethal Dysplasia - Case Report..pdfapplication/pdf339270https://www.arca.fiocruz.br/bitstream/icict/40014/2/Fetal%20Skeletal%20Lethal%20Dysplasia%20-%20Case%20Report..pdf7d85574c9439dc9eb3e752b716486bcdMD52TEXTFetal Skeletal Lethal Dysplasia - 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dc.title.pt_BR.fl_str_mv |
Fetal Skeletal Lethal Dysplasia: Case Report |
title |
Fetal Skeletal Lethal Dysplasia: Case Report |
spellingShingle |
Fetal Skeletal Lethal Dysplasia: Case Report Savoldi, Alexandre Mello Case Reports Review Adult Fatal Outcome Female Fetal Diseases/diagnosis Gravidez Displasia esquelética Osteogênese imperfeita Período pré-natal Síndromes genéticas Pregnancy Skeletal dysplasia Osteogenesis imperfecta Prenatal period Genetic syndromes Humans Osteogenesis Imperfecta/diagnosis Phenotype Pregnancy |
title_short |
Fetal Skeletal Lethal Dysplasia: Case Report |
title_full |
Fetal Skeletal Lethal Dysplasia: Case Report |
title_fullStr |
Fetal Skeletal Lethal Dysplasia: Case Report |
title_full_unstemmed |
Fetal Skeletal Lethal Dysplasia: Case Report |
title_sort |
Fetal Skeletal Lethal Dysplasia: Case Report |
author |
Savoldi, Alexandre Mello |
author_facet |
Savoldi, Alexandre Mello Villar, Maria Auxiliadora Monteiro Machado, Heloisa Novaes Llerena Junior, Juan Clinton |
author_role |
author |
author2 |
Villar, Maria Auxiliadora Monteiro Machado, Heloisa Novaes Llerena Junior, Juan Clinton |
author2_role |
author author author |
dc.contributor.author.fl_str_mv |
Savoldi, Alexandre Mello Villar, Maria Auxiliadora Monteiro Machado, Heloisa Novaes Llerena Junior, Juan Clinton |
dc.subject.mesh.pt_BR.fl_str_mv |
Case Reports Review Adult Fatal Outcome Female Fetal Diseases/diagnosis |
topic |
Case Reports Review Adult Fatal Outcome Female Fetal Diseases/diagnosis Gravidez Displasia esquelética Osteogênese imperfeita Período pré-natal Síndromes genéticas Pregnancy Skeletal dysplasia Osteogenesis imperfecta Prenatal period Genetic syndromes Humans Osteogenesis Imperfecta/diagnosis Phenotype Pregnancy |
dc.subject.other.pt_BR.fl_str_mv |
Gravidez Displasia esquelética Osteogênese imperfeita Período pré-natal Síndromes genéticas |
dc.subject.en.pt_BR.fl_str_mv |
Pregnancy Skeletal dysplasia Osteogenesis imperfecta Prenatal period Genetic syndromes Humans Osteogenesis Imperfecta/diagnosis Phenotype Pregnancy |
description |
This case report and photographic documentation were approved for publication by the Ethical Committee Board of one of our institutions, under protocol numbers CAAE 0022.0.008.000–08 (osteogenesis imperfecta) and CAEE 59488716.1.1001.5269 (ECLAMC). |
publishDate |
2017 |
dc.date.issued.fl_str_mv |
2017 |
dc.date.accessioned.fl_str_mv |
2020-02-17T17:51:47Z |
dc.date.available.fl_str_mv |
2020-02-17T17:51:47Z |
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.citation.fl_str_mv |
SAVOLDI, Alexandre Mello et al. Fetal Skeletal Lethal Dysplasia: Case Report. RBGO Gynecology and Obstetrics, v. 39, n. 10, p. 576-582, Oct. 2017. |
dc.identifier.uri.fl_str_mv |
https://www.arca.fiocruz.br/handle/icict/40014 |
dc.identifier.issn.pt_BR.fl_str_mv |
0100-7203 |
dc.identifier.doi.none.fl_str_mv |
10.1055/s-0037-1603943 |
dc.identifier.eissn.none.fl_str_mv |
1806-9339 |
identifier_str_mv |
SAVOLDI, Alexandre Mello et al. Fetal Skeletal Lethal Dysplasia: Case Report. RBGO Gynecology and Obstetrics, v. 39, n. 10, p. 576-582, Oct. 2017. 0100-7203 10.1055/s-0037-1603943 1806-9339 |
url |
https://www.arca.fiocruz.br/handle/icict/40014 |
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por |
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por |
dc.rights.driver.fl_str_mv |
info:eu-repo/semantics/openAccess |
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openAccess |
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Thieme Medical Publishers |
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Thieme Medical Publishers |
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reponame:Repositório Institucional da FIOCRUZ (ARCA) instname:Fundação Oswaldo Cruz (FIOCRUZ) instacron:FIOCRUZ |
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