Author | Savoldi, Alexandre Mello | |
Author | Villar, Maria Auxiliadora Monteiro | |
Author | Machado, Heloisa Novaes | |
Author | Llerena Junior, Juan Clinton | |
Access date | 2020-02-17T17:51:47Z | |
Available date | 2020-02-17T17:51:47Z | |
Document date | 2017 | |
Citation | SAVOLDI, Alexandre Mello et al. Fetal Skeletal Lethal Dysplasia: Case Report. RBGO Gynecology and Obstetrics, v. 39, n. 10, p. 576-582, Oct. 2017. | pt_BR |
ISSN | 0100-7203 | pt_BR |
URI | https://www.arca.fiocruz.br/handle/icict/40014 | |
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). | pt_BR |
Abstract in Portuguese | 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. | pt_BR |
Language | por | pt_BR |
Publisher | Thieme Medical Publishers | pt_BR |
Rights | open access | pt_BR |
MeSH | Case Reports | pt_BR |
MeSH | Review | pt_BR |
MeSH | Adult | pt_BR |
MeSH | Fatal Outcome | pt_BR |
MeSH | Female | pt_BR |
MeSH | Fetal Diseases/diagnosis | pt_BR |
Subject in Portuguese | Gravidez | pt_BR |
Subject in Portuguese | Displasia esquelética | pt_BR |
Subject in Portuguese | Osteogênese imperfeita | pt_BR |
Subject in Portuguese | Período pré-natal | pt_BR |
Subject in Portuguese | Síndromes genéticas | pt_BR |
Title | Fetal Skeletal Lethal Dysplasia: Case Report | pt_BR |
Type | Article | pt_BR |
DOI | 10.1055/s-0037-1603943 | |
Abstract | 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. | pt_BR |
Affilliation | 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. | pt_BR |
Affilliation | 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. | pt_BR |
Affilliation | 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. | pt_BR |
Affilliation | 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. | pt_BR |
Subject | Pregnancy | pt_BR |
Subject | Skeletal dysplasia | pt_BR |
Subject | Osteogenesis imperfecta | pt_BR |
Subject | Prenatal period | pt_BR |
Subject | Genetic syndromes | pt_BR |
Subject | Humans | pt_BR |
Subject | Osteogenesis Imperfecta/diagnosis | pt_BR |
Subject | Phenotype | pt_BR |
Subject | Pregnancy | pt_BR |
e-ISSN | 1806-9339 | |