Case Report and Clinical Management of a Case of Osteogenesis Imperfecta Detected in the Prenatal Period
Year: 2024
Type: article
Study design: Case Report
Abstract: Osteogenesis imperfecta is a hereditary disease characterized by bone fragility due to a defect in type I collagen synthesis. The diagnosis is typically suspected based on suggestive ultrasound findings and confirmed through genetic studies. We present a case of osteogenesis imperfecta suspected during obstetrical ultrasound at 19 weeks’ gestation, which was later confirmed radiographically through computed tomography. Due to the severity of the condition, therapeutic termination of pregnancy was indicated.
Institutions: Hôpital Farhat Hached, University of Sousse
Language: English
Subfield: Genetics
Domain: Life Sciences
Open Access status: diamond
OpenAlex ID: W4400515599