Osteogenesis Imperfecta in Pregnancy: A Case Report / 대한산부인과학회잡지

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.