Neonatal osteogenesis imperfecta revealed by antenatal fractures: A case report

Osteogenesis imperfecta (OI) is a rare genetic disorder of connective tissue, primarily caused by mutations in the COL1A1 and COL1A2 genes encoding type I collagen. We describe a male neonate diagnosed with OI after presenting with multiple antenatal and postnatal fractures. Prenatal ultrasound revealed intrauterine growth restriction and long-bone deformities. Postnatal clinical and radiological evaluations demonstrated diffuse osteopenia and multiple diaphyseal fractures. Genetic analysis identified a heterozygous COL1A2 (p.Gly358Ser) mutation consistent with type II OI. The patient was treated with intravenous zoledronic acid and showed was well tolerated. This case highlights the diagnostic and therapeutic challenges associated with severe neonatal OI. Early recognition, genetic confirmation, and multidisciplinary management are essential to improving survival and quality of life. Novel approaches including anti-sclerostin antibodies, TGF-β inhibitors, and emerging gene-editing therapies offer promising perspectives for the future management of this condition.