Fetal Skeletal Lethal Dysplasia: Case Report Displasia Esquelética Letal Fetal: Relato de Caso

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...

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Published inRevista Brasileira de ginecologia e obstetrícia Vol. 39; no. 10; pp. 576 - 582
Main Authors Savoldi, Alexandre Mello, Villar, Maria Auxiliadora Monteiro, Machado, Heloisa Novaes, Llerena Júnior, Juan C.
Format Journal Article
LanguageEnglish
Portuguese
Published Federação Brasileira das Sociedades de Ginecologia e Obstetrícia 01.11.2017
Subjects
genetic syndromes
OBSTETRICS & GYNECOLOGY
osteogenesis imperfecta
pregnancy
prenatal period
skeletal dysplasia
síndromes genéticas
gravidez
pregnancy
prenatal period
displasia esquelética
osteogênese imperfeita
genetic syndromes
período pré-natal
osteogenesis imperfecta
skeletal dysplasia
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Summary: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.
ISSN:1806-9339
0100-7203
DOI:10.1055/s-0037-1603943