Osteogenesis Imperfecta in Pregnancy: A Case Report.
- Author:
Hye Jin CHANG
1
;
Hang Soo KIM
;
Jeong In YANG
;
Hee Sug RYU
;
Ki Suk OH
Author Information
1. Department of Obstetrics and Gynecology, Ajou University School of Medicine, Suwon, Korea.
- Publication Type:Case Report
- Keywords:
Osteogenesis imperfecta;
Pregnancy;
Type I collagen;
Heredity
- MeSH:
Collagen Type I;
Connective Tissue;
Fertilization;
Genetic Counseling;
Heredity;
Humans;
Mothers;
Osteogenesis Imperfecta*;
Osteogenesis*;
Pregnancy*;
Pregnancy, High-Risk;
Prenatal Diagnosis
- From:Korean Journal of Obstetrics and Gynecology
2003;46(11):2276-2282
- CountryRepublic of Korea
- Language:Korean
-
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.
