OSTEOGENESIS IMPERFECTA A DIFFICULT PRENATAL DIAGNOSIS: ABOUT A CASE

The Osteogenesis imperfecta (OI) is a rare genetic disorder characterized by bone fragility and osteopenia. It combines skeletal signs of varying severity (mainly fractures, hyperlaxity of the ligament, imperfect dentinogenesis and bone deformities), and inconstant extra skeletal signs (such as blue sclerotics, deafness and vascular fragility). In antenatal, the diagnosis is generally evoked in the face of the observation of multiple fractures or curvature of the long bones. We report in this work the case of a patient followed in our hospital for suspected achondroplasia from the age of 18 weeks with at birth the diagnosis of osteogenesis imperfecta, we recall the data from the literature on this pathology and we emphasize the value of monitoring pregnancies and prenatal diagnosis for better management at birth.