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RCOG World Congress 2025
June 23 - 25, 2025 | ExCeL London, UK
EP.0483
Late Prenatal Diagnosis of Osteogenesis Imperfecta: A Case Report
Poster Presenter
Authors
Nesrine Souayeh, Haithem Aloui, Asma Zouaghi, Hadhami Rouis, Ikram Aribi, Chaouki Mbarki, Hajer Bettaieb
Affiliations
Ben Arous Regional Hospital, Deprtment of gynecology and Obstetrics, Ben Arous regional hospital, gynecology and obstetrics department, university on Tunis elmanar, faculty of medicine, Ben Arous, Department of Gynecology and Obstetrics of Tunis Maternity and Neonatology Center,, Ben Arous regional hospital, gynecology and obstetrics department,universityof Tunis elmanar, faculty of medicine, Ben Arous regional hospital, gynecology and obstetrics department, university of Tunis elmanar, faculty of medecine
Part of Topic
Fetal medicine
INTRODUCTION/BACKGROUND
Osteogenesis imperfecta (OI) is a rare genetic disorder characterized by bone fragility and
increased risk of fractures, most commonly resulting from mutations in the COL1A1 and
COL1A2 genes, which disrupt type I collagen synthesis (1). Early detection is crucial for
management and genetic counseling. Prenatal ultrasound is a key tool for identifying
skeletal anomalies suggestive of OI (1,2).