Osteogenesis imperfecta type V in a mother and baby pair: First case report of pregnancy and delivery

Abstract Background Osteogenesis imperfecta (OI) is a rare condition with limited data on fetal and maternal impact for almost all subtypes. OI type V is a very rare, autosomal dominant, inherited subtype of OI. The care of pregnant women with OI is managed by an interdisciplinary team, and fetal diagnosis is possible through amniocentesis, which may assist in delivery planning. Case This report is the first to describe a case of maternal and fetal OI type V. We detail maternal and fetal management during pregnancy and delivery planning. While no major complications occurred during pregnancy or delivery, the neonate developed multiple fractures in the first few months of life. Conclusion Our case shows favourable maternal and pregnancy outcomes with OI type V and emphasizes the importance of fetal diagnosis.