Fetal Skeletal Lethal Dysplasia: Case Report

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...

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Autores principales: Savoldi, Alexandre Mello, Villar, Maria Auxiliadora Monteiro, Machado, Heloisa Novaes, Llerena Júnior, Juan C.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Thieme Revinter Publicações Ltda 2017
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10309383/
https://www.ncbi.nlm.nih.gov/pubmed/28783850
http://dx.doi.org/10.1055/s-0037-1603943
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author Savoldi, Alexandre Mello
Villar, Maria Auxiliadora Monteiro
Machado, Heloisa Novaes
Llerena Júnior, Juan C.
author_facet Savoldi, Alexandre Mello
Villar, Maria Auxiliadora Monteiro
Machado, Heloisa Novaes
Llerena Júnior, Juan C.
author_sort Savoldi, Alexandre Mello
collection PubMed
description 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.
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spelling pubmed-103093832023-07-27 Fetal Skeletal Lethal Dysplasia: Case Report Savoldi, Alexandre Mello Villar, Maria Auxiliadora Monteiro Machado, Heloisa Novaes Llerena Júnior, Juan C. Rev Bras Ginecol Obstet 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. Thieme Revinter Publicações Ltda 2017-08-07 2017-10 /pmc/articles/PMC10309383/ /pubmed/28783850 http://dx.doi.org/10.1055/s-0037-1603943 Text en https://creativecommons.org/licenses/by-nc-nd/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution-NonCommercial-NoDerivatives License, which permits unrestricted reproduction and distribution, for non-commercial purposes only; and use and reproduction, but not distribution, of adapted material for non-commercial purposes only, provided the original work is properly cited.
spellingShingle Savoldi, Alexandre Mello
Villar, Maria Auxiliadora Monteiro
Machado, Heloisa Novaes
Llerena Júnior, Juan C.
Fetal Skeletal Lethal Dysplasia: Case Report
title 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_short Fetal Skeletal Lethal Dysplasia: Case Report
title_sort fetal skeletal lethal dysplasia: case report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10309383/
https://www.ncbi.nlm.nih.gov/pubmed/28783850
http://dx.doi.org/10.1055/s-0037-1603943
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AT machadoheloisanovaes fetalskeletallethaldysplasiacasereport
AT llerenajuniorjuanc fetalskeletallethaldysplasiacasereport

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