Prenatal diagnosis of osteogenesis imperfecta type 2: case report

Caroline Mombaque dos Santos, Francisco Maximiliano Pancich Gallarreta, Wendel Mombaque dos Santos, Caroline Eckerdt Schroer, Edson Nunes de Morais


Aims: To describe a case of prenatal diagnosis of the lethal form of osteogenesis imperfecta.

Case description: A 26 year-old pregnant woman, black, married, housewife, previously healthy, in her third pregnancy, was referred with 29 weeks and five days of gestation to the Fetal Medicine Service of the University Hospital of Santa Maria, due to hypothesis of intrauterine growth restriction. Obstetric ultrasound, complemented by magnetic resonance, allowed the diagnosis of osteogenesis imperfecta type 2, with intrauterine growth restriction, fetal weight below the 3rd percentile and major bone deformities. The patient underwent a cesarean section at 33 weeks and four days of gestation. The newborn infant, weighting 1120 g, died due to respiratory failure immediately after birth.

Conclusions: Osteogenesis imperfecta is a connective tissue disease that courses with lethal and nonlethal forms, and prenatal diagnostic imaging enables family counseling regarding prognosis and programming the type of delivery. Reporting this case is important to the scientific community, in order to support the management of similar cases.


Osteogenesis imperfecta; Musculoskeletal abnormalities; Ultrasonography, prenatal; Magnetic resonance imaging.


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