Osteogenesis Imperfecta with Associated Ostium Secundum Atrial Septal Defect: A Case Report from North Central Nigeria

Le résumé fourni par la source

Abstract Osteogenesis imperfecta (OI) is a group of inherited disorders of connective tissue characterized by increased bone fragility. The disease can manifest in a range of severities, from mild cases with few fractures and minor skeletal deformities to severe forms that may result in stillbirth or birth with multiple fractures and other complications. We report a case of OI (probably type III) with concomitant ostium secundum atrial septal defect in an 8-day male neonate who had no family history of the disease from North Central Nigeria. The baby had progressive respiratory distress with hypoxia from the 2 nd day of life. He was managed conservatively, discharged after 7 days of hospitalization, and remained clinically stable on follow-up visits. This is to highlight the sporadic occurrence of Osteogenesis Imperfecta (OI), its co-occurrence with congenital heart disease, and the challenges in providing care.

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