Fetal Skeletal Lethal Dysplasia: Case Report

Alexandre Mello Savoldi; Maria Auxiliadora Monteiro Villar; Heloisa Novaes Machado; Juan C. Llerena Júnior

doi:10.1055/s-0037-1603943

Revista Brasileira de Ginecologia e Obstetrícia / RBGO Gynecology and Obstetrics, Inhaltsverzeichnis

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

Authors

Alexandre Mello Savoldi

¹Center for Medical Genetics and Center for Rare Diseases, Instituto Nacional Fernandes Figueira (IFF), Fundação Oswaldo Cruz (Fiocruz), Rio de Janeiro, RJ, Brazil

²Latin American Collaborative Study of Congenital Malformations (ECLAMC), Hospital A05, Instituto Nacional Fernandes Figueira (IFF), Fiocruz, Rio de Janeiro, RJ, Brazil

³Reference Center for Osteogenesis Imperfecta (CROI), Instituto Nacional Fernandes Figueira (IFF), Fiocruz, Rio de Janeiro, RJ, Brazil
Maria Auxiliadora Monteiro Villar

¹Center for Medical Genetics and Center for Rare Diseases, Instituto Nacional Fernandes Figueira (IFF), Fundação Oswaldo Cruz (Fiocruz), Rio de Janeiro, RJ, Brazil

²Latin American Collaborative Study of Congenital Malformations (ECLAMC), Hospital A05, Instituto Nacional Fernandes Figueira (IFF), Fiocruz, Rio de Janeiro, RJ, Brazil

³Reference Center for Osteogenesis Imperfecta (CROI), Instituto Nacional Fernandes Figueira (IFF), Fiocruz, Rio de Janeiro, RJ, Brazil
Heloisa Novaes Machado

²Latin American Collaborative Study of Congenital Malformations (ECLAMC), Hospital A05, Instituto Nacional Fernandes Figueira (IFF), Fiocruz, Rio de Janeiro, RJ, Brazil

⁴Pathological Anatomy Service, Instituto Nacional Fernandes Figueira (IFF), Fundação Oswaldo Cruz (Fiocruz), Rio de Janeiro, RJ, Brasil
Juan C. Llerena Júnior

¹Center for Medical Genetics and Center for Rare Diseases, Instituto Nacional Fernandes Figueira (IFF), Fundação Oswaldo Cruz (Fiocruz), Rio de Janeiro, RJ, Brazil

²Latin American Collaborative Study of Congenital Malformations (ECLAMC), Hospital A05, Instituto Nacional Fernandes Figueira (IFF), Fiocruz, Rio de Janeiro, RJ, Brazil

³Reference Center for Osteogenesis Imperfecta (CROI), Instituto Nacional Fernandes Figueira (IFF), Fiocruz, Rio de Janeiro, RJ, Brazil

⁵Instituto Nacional de Genética Médica Populacional (Inagemp), Rio de Janeiro, RJ, Brazil

⁶Fundação Arthur Sá Erp, Faculdade de Medicina de Petrópolis, Rio de Janeiro, RJ, Brazil

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.

Keywords

pregnancy - skeletal dysplasia - osteogenesis imperfecta - prenatal period - genetic syndromes

Palavras-chave

gravidez - displasia esquelética - osteogênese imperfeita - período pré-natal - síndromes genéticas

Volltext

Referenzen

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