Korean J Obstet Gynecol.  2003 Nov;46(11):2276-2282.

Osteogenesis Imperfecta in Pregnancy: A Case Report

• Chang HJ
• Kim HS
• Yang JI
• Ryu HS
• Oh KS

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.

Keyword

Osteogenesis imperfecta; Pregnancy; Type I collagen; Heredity

MeSH Terms

Collagen Type I
Connective Tissue
Fertilization
Genetic Counseling
Heredity
Humans
Mothers
Osteogenesis Imperfecta*
Osteogenesis*
Pregnancy*
Pregnancy, High-Risk
Prenatal Diagnosis
Collagen Type I