title: Prenatal diagnosis of osteogenesis imperfecta congenita by ultrasonography.
abstract: As well as being a rare connective tissue disorder, osteogenesis imperfecta congenita (OIC) is also the most severe form of osteogenesis imperfecta (OI). We report a case that was diagnosed by sonography in a fetus at 22 weeks of gestation. The diagnosis was confirmed by postnatal radiography and autopsy. The prenatal sonographic findings were: short bowed femurs with fractures and thin skull with unusual clarity of intracranial structures. The postnatal radiography showed crumbled long 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 extremities. The microscopic findings of the skeleton, including skull, vertebrae, ribs and long bones, revealed normal cartilagenous development but abnormal bone formation. The pathologic features of the skeleton were compatible with osteogenesis imperfecta type II, ie, OIC. Fractures and bone deformities are the cardinal symptoms of OIC which make intrauterine diagnosis possible. It should be differentiated from other types 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 time it is diagnosed. In the present report, termination by extraovular induction was performed immediately after OIC was noted on sonography.
authors.affiliation: Department of Obstetrics and Gynecology, Keelung Chang Gung Memorial Hospital, Taiwan ROC.
authors.forename: F P
authors.initials: FP
authors.lastname: Chen
authors.forename: L C
authors.initials: LC
authors.lastname: Chang
mesh_terms: D000028:Abortion, Induced; D000328:Adult; D005260:Female; D005315:Fetal Diseases / Q000000981:diagnostic imaging* / Q000473:pathology; D005865:Gestational Age; D006801:Humans; D008297:Male; D010013:Osteogenesis Imperfecta / Q000000981:diagnostic imaging* / Q000473:pathology; D011247:Pregnancy; D016216:Ultrasonography, Prenatal