Case Report and Clinical Management of a Case of Osteogenesis Imperfecta Detected in the Prenatal Period  

作　　者：Amina Chaieb Oumayma Ben Rejeb Samar Knaz Yasmine Ben Ali Syrine Chelly Safia Ernez Mouna Derouiche Amina Chaieb;Oumayma Ben Rejeb;Samar Knaz;Yasmine Ben Ali;Syrine Chelly;Safia Ernez;Mouna Derouiche(Department of Gynecology and Obstetrics, Farhat Hached University Hospital, Sousse, Tunisia;Faculty of Medicine Ibn Al Jazzar, University of Sousse, Sousse, Tunisia)

机构地区：[1]Department of Gynecology and Obstetrics, Farhat Hached University Hospital, Sousse, Tunisia [2]Faculty of Medicine Ibn Al Jazzar, University of Sousse, Sousse, Tunisia

出　　处：《Open Journal of Obstetrics and Gynecology》2024年第7期996-1002,共7页妇产科期刊（英文）

摘　　要：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.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.

关 键 词：Osteogenesis Imperfecta Ultrasound Screening Antenatal Diagnosis 

分 类 号：R71[医药卫生—妇产科学]