Taehan Sanbuinkwa Hakhoe chapchi; Korean journal of obstetrics and gynecology; 대한산부인과학회잡지
Osteogenesis imperfecta (01) 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 01, 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 01 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.
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