CC BY-NC-ND 4.0 · Rev Bras Ginecol Obstet 2017; 39(10): 576-582
DOI: 10.1055/s-0037-1603943
Case Report
Thieme Revinter Publicações Ltda Rio de Janeiro, Brazil

Fetal Skeletal Lethal Dysplasia: Case Report

Displasia Esquelética Letal Fetal: Relato de Caso
Alexandre Mello Savoldi
1   Center for Medical Genetics and Center for Rare Diseases, Instituto Nacional Fernandes Figueira (IFF), Fundação Oswaldo Cruz (Fiocruz), Rio de Janeiro, RJ, Brazil
2   Latin American Collaborative Study of Congenital Malformations (ECLAMC), Hospital A05, Instituto Nacional Fernandes Figueira (IFF), Fiocruz, Rio de Janeiro, RJ, Brazil
3   Reference Center for Osteogenesis Imperfecta (CROI), Instituto Nacional Fernandes Figueira (IFF), Fiocruz, Rio de Janeiro, RJ, Brazil
,
Maria Auxiliadora Monteiro Villar
1   Center for Medical Genetics and Center for Rare Diseases, Instituto Nacional Fernandes Figueira (IFF), Fundação Oswaldo Cruz (Fiocruz), Rio de Janeiro, RJ, Brazil
2   Latin American Collaborative Study of Congenital Malformations (ECLAMC), Hospital A05, Instituto Nacional Fernandes Figueira (IFF), Fiocruz, Rio de Janeiro, RJ, Brazil
3   Reference Center for Osteogenesis Imperfecta (CROI), Instituto Nacional Fernandes Figueira (IFF), Fiocruz, Rio de Janeiro, RJ, Brazil
,
Heloisa Novaes Machado
2   Latin American Collaborative Study of Congenital Malformations (ECLAMC), Hospital A05, Instituto Nacional Fernandes Figueira (IFF), Fiocruz, Rio de Janeiro, RJ, Brazil
4   Pathological Anatomy Service, Instituto Nacional Fernandes Figueira (IFF), Fundação Oswaldo Cruz (Fiocruz), Rio de Janeiro, RJ, Brasil
,
Juan C. Llerena Júnior
1   Center for Medical Genetics and Center for Rare Diseases, Instituto Nacional Fernandes Figueira (IFF), Fundação Oswaldo Cruz (Fiocruz), Rio de Janeiro, RJ, Brazil
2   Latin American Collaborative Study of Congenital Malformations (ECLAMC), Hospital A05, Instituto Nacional Fernandes Figueira (IFF), Fiocruz, Rio de Janeiro, RJ, Brazil
3   Reference Center for Osteogenesis Imperfecta (CROI), Instituto Nacional Fernandes Figueira (IFF), Fiocruz, Rio de Janeiro, RJ, Brazil
5   Instituto Nacional de Genética Médica Populacional (Inagemp), Rio de Janeiro, RJ, Brazil
6   Fundação Arthur Sá Erp, Faculdade de Medicina de Petrópolis, Rio de Janeiro, RJ, Brazil
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Weitere Informationen

Publikationsverlauf

13. Dezember 2016

04. April 2017

Publikationsdatum:
07. August 2017 (online)

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.

Resumo

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.

 
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