Fetal Skeletal Lethal Dysplasia: Case Report

Detalhes bibliográficos
Autor(a) principal: Savoldi, Alexandre Mello
Data de Publicação: 2017
Outros Autores: Villar, Maria Auxiliadora Monteiro, Machado, Heloisa Novaes, Llerena Junior, Juan Clinton
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).
id CRUZ_1d6652315e88c7e351bf6e600ee614e7
oai_identifier_str oai:www.arca.fiocruz.br:icict/40014
network_acronym_str CRUZ
network_name_str Repositório Institucional da FIOCRUZ (ARCA)
repository_id_str 2135
spelling 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 - Case Report..pdf.txtFetal Skeletal Lethal Dysplasia - Case Report..pdf.txtExtracted texttext/plain27049https://www.arca.fiocruz.br/bitstream/icict/40014/3/Fetal%20Skeletal%20Lethal%20Dysplasia%20-%20Case%20Report..pdf.txt64b36c0e0efe76d27a7454137d00d2afMD53icict/400142020-05-12 13:32:01.519oai:www.arca.fiocruz.br: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ório InstitucionalPUBhttps://www.arca.fiocruz.br/oai/requestrepositorio.arca@fiocruz.bropendoar:21352020-05-12T16:32:01Repositório Institucional da FIOCRUZ (ARCA) - Fundação Oswaldo Cruz (FIOCRUZ)false
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
dc.language.iso.fl_str_mv por
language por
dc.rights.driver.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.publisher.none.fl_str_mv Thieme Medical Publishers
publisher.none.fl_str_mv Thieme Medical Publishers
dc.source.none.fl_str_mv reponame:Repositório Institucional da FIOCRUZ (ARCA)
instname:Fundação Oswaldo Cruz (FIOCRUZ)
instacron:FIOCRUZ
instname_str Fundação Oswaldo Cruz (FIOCRUZ)
instacron_str FIOCRUZ
institution FIOCRUZ
reponame_str Repositório Institucional da FIOCRUZ (ARCA)
collection Repositório Institucional da FIOCRUZ (ARCA)
bitstream.url.fl_str_mv https://www.arca.fiocruz.br/bitstream/icict/40014/1/license.txt
https://www.arca.fiocruz.br/bitstream/icict/40014/2/Fetal%20Skeletal%20Lethal%20Dysplasia%20-%20Case%20Report..pdf
https://www.arca.fiocruz.br/bitstream/icict/40014/3/Fetal%20Skeletal%20Lethal%20Dysplasia%20-%20Case%20Report..pdf.txt
bitstream.checksum.fl_str_mv 5a560609d32a3863062d77ff32785d58
7d85574c9439dc9eb3e752b716486bcd
64b36c0e0efe76d27a7454137d00d2af
bitstream.checksumAlgorithm.fl_str_mv MD5
MD5
MD5
repository.name.fl_str_mv Repositório Institucional da FIOCRUZ (ARCA) - Fundação Oswaldo Cruz (FIOCRUZ)
repository.mail.fl_str_mv repositorio.arca@fiocruz.br
_version_ 1798324981292072960

Registros relacionados