Prenatal diagnosis of osteogenesis imperfecta type 2: case report

Detalhes bibliográficos
Autor(a) principal: dos Santos, Caroline Mombaque
Data de Publicação: 2015
Outros Autores: Gallarreta, Francisco Maximiliano Pancich, Santos, Wendel Mombaque dos, Schroer, Caroline Eckerdt, de Morais, Edson Nunes
Tipo de documento: Artigo
Idioma: por
Título da fonte: Scientia Medica (Porto Alegre. Online)
Texto Completo: https://revistaseletronicas.pucrs.br/scientiamedica/article/view/20066
Resumo: Aims: To describe a case of prenatal diagnosis of the lethal form of osteogenesis imperfecta.Case description: A 26 year-old pregnant woman, black, married, housewife, previously healthy, in her third pregnancy, was referred with 29 weeks and five days of gestation to the Fetal Medicine Service of the University Hospital of Santa Maria, due to hypothesis of intrauterine growth restriction. Obstetric ultrasound, complemented by magnetic resonance, allowed the diagnosis of osteogenesis imperfecta type 2, with intrauterine growth restriction, fetal weight below the 3rd percentile and major bone deformities. The patient underwent a cesarean section at 33 weeks and four days of gestation. The newborn infant, weighting 1120 g, died due to respiratory failure immediately after birth.Conclusions: Osteogenesis imperfecta is a connective tissue disease that courses with lethal and nonlethal forms, and prenatal diagnostic imaging enables family counseling regarding prognosis and programming the type of delivery. Reporting this case is important to the scientific community, in order to support the management of similar cases.
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spelling Prenatal diagnosis of osteogenesis imperfecta type 2: case reportDiagnóstico pré-natal da osteogênese imperfeita tipo 2: relato de casoOsteogenesis imperfectaMusculoskeletal abnormalitiesUltrasonographyprenatalMagnetic resonance imaging.Osteogênese imperfeitaAnormalidades musculoesqueléticasUltrassonografia pré-natalImagem por ressonância magnética.lImagem por Ressonância Magnética.Ciências da saúdeAims: To describe a case of prenatal diagnosis of the lethal form of osteogenesis imperfecta.Case description: A 26 year-old pregnant woman, black, married, housewife, previously healthy, in her third pregnancy, was referred with 29 weeks and five days of gestation to the Fetal Medicine Service of the University Hospital of Santa Maria, due to hypothesis of intrauterine growth restriction. Obstetric ultrasound, complemented by magnetic resonance, allowed the diagnosis of osteogenesis imperfecta type 2, with intrauterine growth restriction, fetal weight below the 3rd percentile and major bone deformities. The patient underwent a cesarean section at 33 weeks and four days of gestation. The newborn infant, weighting 1120 g, died due to respiratory failure immediately after birth.Conclusions: Osteogenesis imperfecta is a connective tissue disease that courses with lethal and nonlethal forms, and prenatal diagnostic imaging enables family counseling regarding prognosis and programming the type of delivery. Reporting this case is important to the scientific community, in order to support the management of similar cases.Objetivos: Descrever um caso de diagnóstico pré-natal da forma letal de osteogênese imperfeita.Descrição do caso: Uma gestante de 26 anos, de cor negra, casada, do lar, previamente hígida, em sua terceira gestação, foi encaminhada com idade gestacional de 29 semanas e cinco dias ao Serviço de Medicina Fetal do Hospital Universitário de Santa Maria devido à hipótese de crescimento intrauterino restrito. A ultrassonografia obstétrica complementada pela ressonância magnética permitiu o diagnóstico de osteogênese imperfeita tipo 2, com crescimento intrauterino restrito, peso fetal abaixo do percentil 3 e deformidades ósseas importantes. A gestante foi submetida à cesariana com 33 semanas de idade gestacional. O recém-nascido, com peso de 1.120 g, foi a óbito por insuficiência respiratória logo após o nascimento.Conclusões: A osteogênese imperfeita é uma doença do tecido conjuntivo que cursa com formas letais e não letais, e o diagnóstico por imagem no pré-natal possibilita o aconselhamento familiar quanto ao prognóstico e a programação para o parto. O relato deste caso é importante para a comunidade científica, visando ao apoio no manejo de casos semelhantes.Editora da PUCRS - ediPUCRS2015-06-22info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionRelato de caso raro ou de especial interesseapplication/pdfhttps://revistaseletronicas.pucrs.br/scientiamedica/article/view/2006610.15448/1980-6108.2015.1.20066Scientia Medica; Vol. 25 No. 1 (2015); ID20066Scientia Medica; v. 25 n. 1 (2015); ID200661980-61081806-556210.15448/1980-6108.2015.1reponame:Scientia Medica (Porto Alegre. Online)instname:Pontifícia Universidade Católica do Rio Grande do Sul (PUCRS)instacron:PUC_RSporhttps://revistaseletronicas.pucrs.br/scientiamedica/article/view/20066/13180Copyright (c) 2015 Scientia Medicainfo:eu-repo/semantics/openAccessdos Santos, Caroline MombaqueGallarreta, Francisco Maximiliano PancichSantos, Wendel Mombaque dosSchroer, Caroline Eckerdtde Morais, Edson Nunes2015-09-28T22:25:13Zoai:ojs.revistaseletronicas.pucrs.br:article/20066Revistahttps://revistaseletronicas.pucrs.br/scientiamedica/PUBhttps://revistaseletronicas.pucrs.br/scientiamedica/oaiscientiamedica@pucrs.br || editora.periodicos@pucrs.br1980-61081806-5562opendoar:2015-09-28T22:25:13Scientia Medica (Porto Alegre. Online) - Pontifícia Universidade Católica do Rio Grande do Sul (PUCRS)false
dc.title.none.fl_str_mv Prenatal diagnosis of osteogenesis imperfecta type 2: case report
Diagnóstico pré-natal da osteogênese imperfeita tipo 2: relato de caso
title Prenatal diagnosis of osteogenesis imperfecta type 2: case report
spellingShingle Prenatal diagnosis of osteogenesis imperfecta type 2: case report
dos Santos, Caroline Mombaque
Osteogenesis imperfecta
Musculoskeletal abnormalities
Ultrasonography
prenatal
Magnetic resonance imaging.
Osteogênese imperfeita
Anormalidades musculoesqueléticas
Ultrassonografia pré-natal
Imagem por ressonância magnética.l
Imagem por Ressonância Magnética.
Ciências da saúde
title_short Prenatal diagnosis of osteogenesis imperfecta type 2: case report
title_full Prenatal diagnosis of osteogenesis imperfecta type 2: case report
title_fullStr Prenatal diagnosis of osteogenesis imperfecta type 2: case report
title_full_unstemmed Prenatal diagnosis of osteogenesis imperfecta type 2: case report
title_sort Prenatal diagnosis of osteogenesis imperfecta type 2: case report
author dos Santos, Caroline Mombaque
author_facet dos Santos, Caroline Mombaque
Gallarreta, Francisco Maximiliano Pancich
Santos, Wendel Mombaque dos
Schroer, Caroline Eckerdt
de Morais, Edson Nunes
author_role author
author2 Gallarreta, Francisco Maximiliano Pancich
Santos, Wendel Mombaque dos
Schroer, Caroline Eckerdt
de Morais, Edson Nunes
author2_role author
author
author
author
dc.contributor.author.fl_str_mv dos Santos, Caroline Mombaque
Gallarreta, Francisco Maximiliano Pancich
Santos, Wendel Mombaque dos
Schroer, Caroline Eckerdt
de Morais, Edson Nunes
dc.subject.por.fl_str_mv Osteogenesis imperfecta
Musculoskeletal abnormalities
Ultrasonography
prenatal
Magnetic resonance imaging.
Osteogênese imperfeita
Anormalidades musculoesqueléticas
Ultrassonografia pré-natal
Imagem por ressonância magnética.l
Imagem por Ressonância Magnética.
Ciências da saúde
topic Osteogenesis imperfecta
Musculoskeletal abnormalities
Ultrasonography
prenatal
Magnetic resonance imaging.
Osteogênese imperfeita
Anormalidades musculoesqueléticas
Ultrassonografia pré-natal
Imagem por ressonância magnética.l
Imagem por Ressonância Magnética.
Ciências da saúde
description Aims: To describe a case of prenatal diagnosis of the lethal form of osteogenesis imperfecta.Case description: A 26 year-old pregnant woman, black, married, housewife, previously healthy, in her third pregnancy, was referred with 29 weeks and five days of gestation to the Fetal Medicine Service of the University Hospital of Santa Maria, due to hypothesis of intrauterine growth restriction. Obstetric ultrasound, complemented by magnetic resonance, allowed the diagnosis of osteogenesis imperfecta type 2, with intrauterine growth restriction, fetal weight below the 3rd percentile and major bone deformities. The patient underwent a cesarean section at 33 weeks and four days of gestation. The newborn infant, weighting 1120 g, died due to respiratory failure immediately after birth.Conclusions: Osteogenesis imperfecta is a connective tissue disease that courses with lethal and nonlethal forms, and prenatal diagnostic imaging enables family counseling regarding prognosis and programming the type of delivery. Reporting this case is important to the scientific community, in order to support the management of similar cases.
publishDate 2015
dc.date.none.fl_str_mv 2015-06-22
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/20066
10.15448/1980-6108.2015.1.20066
url https://revistaseletronicas.pucrs.br/scientiamedica/article/view/20066
identifier_str_mv 10.15448/1980-6108.2015.1.20066
dc.language.iso.fl_str_mv por
language por
dc.relation.none.fl_str_mv https://revistaseletronicas.pucrs.br/scientiamedica/article/view/20066/13180
dc.rights.driver.fl_str_mv Copyright (c) 2015 Scientia Medica
info:eu-repo/semantics/openAccess
rights_invalid_str_mv Copyright (c) 2015 Scientia Medica
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv 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. 25 No. 1 (2015); ID20066
Scientia Medica; v. 25 n. 1 (2015); ID20066
1980-6108
1806-5562
10.15448/1980-6108.2015.1
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_ 1809101750658924544

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