TITLE:
Case Report and Clinical Management of a Case of Osteogenesis Imperfecta Detected in the Prenatal Period
AUTHORS:
Amina Chaieb, Oumayma Ben Rejeb, Samar Knaz, Yasmine Ben Ali, Syrine Chelly, Safia Ernez, Mouna Derouiche
KEYWORDS:
Osteogenesis Imperfecta, Ultrasound Screening, Antenatal Diagnosis
JOURNAL NAME:
Open Journal of Obstetrics and Gynecology,
Vol.14 No.7,
July
10,
2024
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.