Osteogenesis Imperfecta in Pregnancy: A Case Report.

Chang, Hye Jin; Kim, Hang Soo; Yang, Jeong In; Ryu, Hee Sug; Oh, Ki Suk

Obstet Gynecol Sci > Volume 46(11); 2003 > Article

Case Report

Korean Journal of Obstetrics & Gynecology 2003;46(11):2276-2282.
Published online: November 1, 2003

Osteogenesis Imperfecta in Pregnancy: A Case Report.

Hye Jin Chang, Hang Soo Kim, Jeong In Yang, Hee Sug Ryu, Ki Suk Oh

Department of Obstetrics and Gynecology, Ajou University School of Medicine, Suwon, Korea.

Abstract

Osteogenesis imperfecta (OI) is an inherited disease of connective tissue disorder which represents a phenotypically heterogeneous group of conditions that results from a number of genetic defects in the synthesis of type I collagen. A pregnancy associated with osteogenesis imperfecta is considered a high risk pregnancy because the disease is associated with various metabolic and hematologic disorders, as well as well-recongnized skeletal abnormalities. In addition to the mother with OI, the offspring has about a 25% to 50% chance of being affected, therefore genetic counseling before conception and prenatal diagnosis should be offered to all affected mothers. Patients with OI present a series of problems and require a multidisciplinary approach in their management. We present a case of parturient with osteogenesis imperfecta with brief review of literature.

Keywords: Osteogenesis imperfecta; Pregnancy; Type I collagen; Heredity