Osteogenesis imperfecta (OI) is a group of congenital and heritable bone disorders that currently affects at least 50,000 people in the United States. OI varies in severity from perinatally lethal to mild forms. The majority of cases is caused by a dominant mutation in type I collagen genes (COL1α1 and COL1α2), altering the quantity or quality of type I collagen. Although OI is typically characterized as a disease of the bone, it is perhaps more accurately described as a connective tissue disorder. Type I collagen is a major constituent of lung connective tissue. Respiratory insufficiency is the leading cause of death in patients with OI. Thus, it is important and necessary to understand the etiology of the restrictive pulmonary physiology in the OI population.
Osteogenesis Imperfecta
Osteogenesis imperfecta (OI) is a group of congenital and heritable bone disorders that currently affects at least 50,000 people in the United States. OI varies in severity from perinatally lethal to mild forms. The majority of cases is caused by a dominant mutation in type I collagen genes (COL1α1 and COL1α2), altering the quantity or quality of type I collagen. Although OI is typically characterized as a disease of the bone, it is perhaps more accurately described as a connective tissue disorder. Type I collagen is a major constituent of lung connective tissue. Respiratory insufficiency is the leading cause of death in patients with OI. Thus, it is important and necessary to understand the etiology of the restrictive pulmonary physiology in the OI population.
Cardiopulmonary Outcomes in Osteogenesis Imperfecta: BBD7708
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University of California Los Angeles, Los Angeles, California, United States, 90095
Kennedy Krieger Institute / Hugo W. Moser Research Institute, Baltimore, Maryland, United States, 21205
Hospital for Special Surgery, New York, New York, United States, 10021
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18 Years to
ALL
No
Baylor College of Medicine,
Vernon Sutton, MD, PRINCIPAL_INVESTIGATOR, Baylor College of Medicine
Kathleen Raggio, STUDY_CHAIR, Hospital for Special Surgery, New York
2026-09-01