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

Osteogenesis imperfecta is considered a rare genetic condition which characterized by bone fragility. In 85% of cases, it caused mutations in COL1A1 and COL1A2 genes are essential to produce type I collagen. We report the case female neonate delivered 27-year-old women at San Bartolomé Teaching Hospital with family history clavicle fracture. A prenatal control ultrasound was performed mother 29 weeks. fetus altered morphology multiple fractures found. Therefore, diagnosis osteogenesis performed. The born respiratory distress syndrome an acyanotic congenital heart disease. she remained NICU until her death. highlight importance diagnosis, counseling multidisciplinary evaluation this pathologies new probably pathogenic variant gene detected exomic sequencing amniotic fluid.