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Case Report: A prenatal diagnosis of osteogenesis imperfecta in a patient with a novel pathogenic variant in COL1A2 [version 1; peer review: 1 approved, 1 approved with reservations]

Peláez Chomba, Melissa Sindy ; Vásquez Gómez, Guillermo Raúl ; Sullcahuaman Allende, Yasser Ciro ; Mendoza Fernández, Julio Cesar ; Purizaca Rosillo, Nelson David ; Zevallos, Alejandra ; Cruzate Cabrejos, Vicente Leandro

F1000 research, 2023, Vol.12, p.603 [Periódico revisado por pares]

F1000 Research Ltd

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  • Título:
    Case Report: A prenatal diagnosis of osteogenesis imperfecta in a patient with a novel pathogenic variant in COL1A2 [version 1; peer review: 1 approved, 1 approved with reservations]
  • Autor: Peláez Chomba, Melissa Sindy ; Vásquez Gómez, Guillermo Raúl ; Sullcahuaman Allende, Yasser Ciro ; Mendoza Fernández, Julio Cesar ; Purizaca Rosillo, Nelson David ; Zevallos, Alejandra ; Cruzate Cabrejos, Vicente Leandro
  • Assuntos: eng ; newborn ; Osteogenesis imperfecta ; prenatal diagnosis
  • É parte de: F1000 research, 2023, Vol.12, p.603
  • Descrição: Osteogenesis imperfecta is considered a rare genetic condition which is characterized by bone fragility. In 85% of cases, it is caused by mutations in COL1A1 and  COL1A2 genes which are essential to produce type I collagen. We report the case of a female neonate delivered to a 27-year-old women at San Bartolomé Teaching Hospital with a family history of clavicle fracture. A prenatal control with ultrasound was performed to the mother at 29 weeks. A fetus with altered morphology and multiple fractures was found. Therefore, a prenatal diagnosis of osteogenesis imperfecta was performed. The neonate was born with a respiratory distress syndrome and an acyanotic congenital heart disease. Therefore, she remained in NICU until her death. We highlight the importance of prenatal diagnosis, genetic counseling and a multidisciplinary evaluation in this type of pathologies and report a new probably pathogenic variant in the COL1A2 gene detected by exomic sequencing in amniotic fluid.
  • Editor: F1000 Research Ltd
  • Idioma: Inglês
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  • Realização: ABCD-USP USP   Logos de Redes Sociais: Freepik

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