Universidad Peruana Cayetano Heredia

Case Report: A prenatal diagnosis of osteogenesis imperfecta in a patient with a novel pathogenic variant in COL1A2

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dc.contributor.author Peláez Chomba, Melissa Sindy
dc.contributor.author Vásquez Gómez, Guillermo Raúl
dc.contributor.author Sullcahuamán Allende, Yasser Ciro
dc.contributor.author Mendoza Fernández, Julio Cesar
dc.contributor.author Purizaca Rosillo, Nelson David
dc.contributor.author Zevallos, Alejandra
dc.contributor.author Cruzate Cabrejos, Vicente Leandro
dc.date.accessioned 2023-12-05T17:47:58Z
dc.date.available 2023-12-05T17:47:58Z
dc.date.issued 2023
dc.identifier.uri https://hdl.handle.net/20.500.12866/14615
dc.description.abstract 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. en_US
dc.language.iso eng
dc.publisher F1000 Research
dc.relation.ispartofseries F1000Research
dc.rights info:eu-repo/semantics/restrictedAccess
dc.rights.uri https://creativecommons.org/licenses/by-nc-nd/4.0/deed.es
dc.subject Osteogenesis imperfecta en_US
dc.subject Newborn en_US
dc.subject Prenatal diagnosis en_US
dc.subject.mesh Osteogénesis Imperfecta
dc.subject.mesh Recién Nacido
dc.subject.mesh Diagnóstico Prenatal
dc.title Case Report: A prenatal diagnosis of osteogenesis imperfecta in a patient with a novel pathogenic variant in COL1A2 en_US
dc.type info:eu-repo/semantics/article
dc.identifier.doi https://doi.org/10.12688/f1000research.131094.2
dc.relation.issn 2046-1402


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