Second-trimester diagnosis of osteogenesis imperfecta associated with schizencephaly by sonography

Abstract

Osteogenesis imperfecta is a congenital connective tissue disorder characterized with multiple bone fractures, short limbs, membranous calvarium with wormian bones, and sometimes blue sclerae. Osteogenesis imperfecta is rarely accompanied by other major malformations. Although associations with microcephaly, congenital heart defects or anencephaly have been reported previously, association with schizencephaly was not found on literature review. We report a case of osteogenesis imperfecta associated with schizencephaly diagnosed at 21 weeks of gestation using 2-dimensional ultrasound. The present case shows that prenatal ultrasonographic examination is a very important tool to detect such intrauterine abnormalities in which, management of pregnancy would be changed significantly compared to normal pregnancies.