PRENATAL-DIAGNOSIS OF OSTEOGENESIS IMPERFECTA CONGENITA BY ULTRASONOGRAPHY

As well as being a rare connective tissue disorder, osteogenesis imper fecta congenita (OIC) is also the most severe form of osteogenesis imp erfecta (OI). We report a case that was diagnosed by sonography in a f etus at 22 weeks of gestation, The diagnosis was confirmed by postnata l radiography and autopsy. The prenatal sonographic findings were: sho rt bowed femurs with fractures and thin skull with unusual clarity of intracranial structures. The postnatal radiography showed crumbled lon g bones and beaded ribs compatible with multiple fractures, similar to the prenatal sonographic findings. The major findings on autopsy were deformed skull and ribs and asymmetric deformity of the four extremit ies. The microscopic findings of the skeleton, including skull, verteb rae, ribs and long bones, revealed normal cartilagenous development bu t abnormal bone formation. The pathologic features of the skeleton wer e compatible with osteogenesis imperfecta type II, iel OIC. Fractures and bone deformities are the cardinal symptoms of OIC which make intra uterine diagnosis possible. It should be differentiated from other typ es of OI (I, III and IV), as their prognoses are different. As OIC is lethal, the option of pregnancy termination should be offered at the t ime it is diagnosed. In tile present report, termination by extraovula r induction was performed immediately after OIC was noted on sonograph y.