{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2024,7,18]],"date-time":"2024-07-18T19:40:03Z","timestamp":1721331603719},"reference-count":20,"publisher":"Federa\u00e7\u00e3o das Associa\u00e7\u00f5es de Ginecologia e Obstetr\u00edcia","issue":"10","license":[{"start":{"date-parts":[[2017,8,7]],"date-time":"2017-08-07T00:00:00Z","timestamp":1502064000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Rev Bras Ginecol Obstet"],"published-print":{"date-parts":[[2017,10]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>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.<\/jats:p>","DOI":"10.1055\/s-0037-1603943","type":"journal-article","created":{"date-parts":[[2017,8,7]],"date-time":"2017-08-07T22:42:27Z","timestamp":1502145747000},"page":"576-582","source":"Crossref","is-referenced-by-count":0,"title":["Fetal Skeletal Lethal Dysplasia: Case Report"],"prefix":"10.61622","volume":"39","author":[{"given":"Alexandre Mello","family":"Savoldi","sequence":"additional","affiliation":[{"name":"Center for Medical Genetics and Center for Rare Diseases, Instituto Nacional Fernandes Figueira (IFF), Funda\u00e7\u00e3o Oswaldo Cruz (Fiocruz), Rio de Janeiro, RJ, Brazil"},{"name":"Latin American Collaborative Study of Congenital Malformations (ECLAMC), Hospital A05, Instituto Nacional Fernandes Figueira (IFF), Fiocruz, Rio de Janeiro, RJ, Brazil"},{"name":"Reference Center for Osteogenesis Imperfecta (CROI), Instituto Nacional Fernandes Figueira (IFF), Fiocruz, Rio de Janeiro, RJ, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria Auxiliadora Monteiro","family":"Villar","sequence":"additional","affiliation":[{"name":"Center for Medical Genetics and Center for Rare Diseases, Instituto Nacional Fernandes Figueira (IFF), Funda\u00e7\u00e3o Oswaldo Cruz (Fiocruz), Rio de Janeiro, RJ, Brazil"},{"name":"Latin American Collaborative Study of Congenital Malformations (ECLAMC), Hospital A05, Instituto Nacional Fernandes Figueira (IFF), Fiocruz, Rio de Janeiro, RJ, Brazil"},{"name":"Reference Center for Osteogenesis Imperfecta (CROI), Instituto Nacional Fernandes Figueira (IFF), Fiocruz, Rio de Janeiro, RJ, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Heloisa Novaes","family":"Machado","sequence":"additional","affiliation":[{"name":"Latin American Collaborative Study of Congenital Malformations (ECLAMC), Hospital A05, Instituto Nacional Fernandes Figueira (IFF), Fiocruz, Rio de Janeiro, RJ, Brazil"},{"name":"Pathological Anatomy Service, Instituto Nacional Fernandes Figueira (IFF), Funda\u00e7\u00e3o Oswaldo Cruz (Fiocruz), Rio de Janeiro, RJ, Brasil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Juan C.","family":"Llerena J\u00fanior","sequence":"additional","affiliation":[{"name":"Center for Medical Genetics and Center for Rare Diseases, Instituto Nacional Fernandes Figueira (IFF), Funda\u00e7\u00e3o Oswaldo Cruz (Fiocruz), Rio de Janeiro, RJ, Brazil"},{"name":"Latin American Collaborative Study of Congenital Malformations (ECLAMC), Hospital A05, Instituto Nacional Fernandes Figueira (IFF), Fiocruz, Rio de Janeiro, RJ, Brazil"},{"name":"Reference Center for Osteogenesis Imperfecta (CROI), Instituto Nacional Fernandes Figueira (IFF), Fiocruz, Rio de Janeiro, RJ, Brazil"},{"name":"Instituto Nacional de Gen\u00e9tica M\u00e9dica Populacional (Inagemp), Rio de Janeiro, RJ, Brazil"},{"name":"Funda\u00e7\u00e3o Arthur S\u00e1 Erp, Faculdade de Medicina de Petr\u00f3polis, Rio de Janeiro, RJ, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"47794","published-online":{"date-parts":[[2017,8,7]]},"reference":[{"key":"ref1","first-page":"441","article-title":"Birth prevalence of skeletal dysplasias in the Italian Multicentric Monitoring System for Birth Defects","volume":"104","author":"G Camera","year":"1982","journal-title":"Prog Clin Biol Res"},{"issue":"01","key":"ref2","doi-asserted-by":"crossref","first-page":"49","DOI":"10.1002\/(SICI)1096-8628(19960102)61:1<49::AID-AJMG10>3.0.CO;2-W","article-title":"Epidemiology of osteochondrodysplasias: changing trends due to advances in 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