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FETAL SKELETAL LETHAL DYSPLASIA: CASE REPORT
Displasia esquelética
Osteogênese imperfeita
Período pré-natal
Síndromes genéticas
Skeletal dysplasia
Osteogenesis imperfecta
Prenatal period
Genetic syndromes
Humans
Osteogenesis Imperfecta/diagnosis
Phenotype
Pregnancy
Author
Affilliation
Oswaldo Cruz Foundation. Fernandes Figueira Institute. Center for Medical Genetics and Center for Rare Diseases. Rio de Janeiro, RJ, Brazil / Oswaldo Cruz Foundation. Fernandes Figueira Institute. Latin American Collaborative Study of Congenital Malformations. Rio de Janeiro, RJ, Brazil / Oswaldo Cruz Foundation. Fernandes Figueira Institute. Reference Center for Osteogenesis Imperfecta. Rio de Janeiro, RJ, Brazil.
Oswaldo Cruz Foundation. Fernandes Figueira Institute. Center for Medical Genetics and Center for Rare Diseases. Rio de Janeiro, RJ, Brazil / Oswaldo Cruz Foundation. Fernandes Figueira Institute. Latin American Collaborative Study of Congenital Malformations. Rio de Janeiro, RJ, Brazil / Oswaldo Cruz Foundation. Fernandes Figueira Institute. Reference Center for Osteogenesis Imperfecta. Rio de Janeiro, RJ, Brazil.
Oswaldo Cruz Foundation. Fernandes Figueira Institute. Latin American Collaborative Study of Congenital Malformations. Rio de Janeiro, RJ, Brazil / Oswaldo Cruz Foundation. Fernandes Figueira Institute. Pathological Anatomy Service. Rio de Janeiro, RJ, Brasil.
Oswaldo Cruz Foundation. Fernandes Figueira Institute. Center for Medical Genetics and Center for Rare Diseases. Rio de Janeiro, RJ, Brazil / Oswaldo Cruz Foundation. Fernandes Figueira Institute. Latin American Collaborative Study of Congenital Malformations. Rio de Janeiro, RJ, Brazil / Oswaldo Cruz Foundation. Fernandes Figueira Institute. Reference Center for Osteogenesis Imperfecta. Rio de Janeiro, RJ, Brazil / Instituto Nacional de Genética Médica Populacional. Rio de Janeiro, RJ, Brazil / Fundação Arthur Sá Erp. Faculdade de Medicina de Petrópolis. Rio de Janeiro, RJ, Brazil.
Oswaldo Cruz Foundation. Fernandes Figueira Institute. Center for Medical Genetics and Center for Rare Diseases. Rio de Janeiro, RJ, Brazil / Oswaldo Cruz Foundation. Fernandes Figueira Institute. Latin American Collaborative Study of Congenital Malformations. Rio de Janeiro, RJ, Brazil / Oswaldo Cruz Foundation. Fernandes Figueira Institute. Reference Center for Osteogenesis Imperfecta. Rio de Janeiro, RJ, Brazil.
Oswaldo Cruz Foundation. Fernandes Figueira Institute. Latin American Collaborative Study of Congenital Malformations. Rio de Janeiro, RJ, Brazil / Oswaldo Cruz Foundation. Fernandes Figueira Institute. Pathological Anatomy Service. Rio de Janeiro, RJ, Brasil.
Oswaldo Cruz Foundation. Fernandes Figueira Institute. Center for Medical Genetics and Center for Rare Diseases. Rio de Janeiro, RJ, Brazil / Oswaldo Cruz Foundation. Fernandes Figueira Institute. Latin American Collaborative Study of Congenital Malformations. Rio de Janeiro, RJ, Brazil / Oswaldo Cruz Foundation. Fernandes Figueira Institute. Reference Center for Osteogenesis Imperfecta. Rio de Janeiro, RJ, Brazil / Instituto Nacional de Genética Médica Populacional. Rio de Janeiro, RJ, Brazil / Fundação Arthur Sá Erp. Faculdade de Medicina de Petrópolis. Rio de Janeiro, RJ, Brazil.
Abstract in Portuguese
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.
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.
Keywords in Portuguese
GravidezDisplasia esquelética
Osteogênese imperfeita
Período pré-natal
Síndromes genéticas
Keywords
PregnancySkeletal dysplasia
Osteogenesis imperfecta
Prenatal period
Genetic syndromes
Humans
Osteogenesis Imperfecta/diagnosis
Phenotype
Pregnancy
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