Osteogenesis Imperfecta (OI) is a rare disorder of increased bone fragility characterized by fractures with minimal or absent trauma, dentinogenesis imperfecta (DI), and, in adult years, hearing loss. It is seen in both genders and all races. The clinical features of OI represent a continuum varying from perinatal lethality to individuals with severe skeletal deformities, mobility impairments, and very short stature to nearly asymptomatic individuals with a mild predisposition to fractures, normal stature, and normal lifespan. Fractures can occur in any bone, but are most common in the extremities. These disorders can be devastating and progressive and result in deformity, chronic pain, impaired function and loss of quality of life. The overall goal of this study is to answer specific question about the natural history of brittle bone diseases as defined by molecular etiology and to develop the foundation for prospective clinical studies.
Osteogenesis Imperfecta
Osteogenesis Imperfecta (OI) is a rare disorder of increased bone fragility characterized by fractures with minimal or absent trauma, dentinogenesis imperfecta (DI), and, in adult years, hearing loss. It is seen in both genders and all races. The clinical features of OI represent a continuum varying from perinatal lethality to individuals with severe skeletal deformities, mobility impairments, and very short stature to nearly asymptomatic individuals with a mild predisposition to fractures, normal stature, and normal lifespan. Fractures can occur in any bone, but are most common in the extremities. These disorders can be devastating and progressive and result in deformity, chronic pain, impaired function and loss of quality of life. The overall goal of this study is to answer specific question about the natural history of brittle bone diseases as defined by molecular etiology and to develop the foundation for prospective clinical studies.
BBD Longitudinal Study of Osteogenesis Imperfecta
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Phoenix Children's Hospital, Phoenix, Arizona, United States, 85016
University of California Los Angeles, Los Angeles, California, United States, 90095
AI Dupont Hospital for Children, Wilmington, Delaware, United States, 19803
Children's National Medical Center, Washington, District of Columbia, United States, 21205
University of South Florida, Tampa, Florida, United States, 33620
Kennedy Krieger Institute / Hugo W. Moser Research Institute, Baltimore, Maryland, United States, 21205
University of Nebraska Medical Center, Omaha, Nebraska, United States, 68198
Hospital for Special Surgery, New York, New York, United States, 10021
Oregon Health and Science University, Portland, Oregon, United States, 97239
Baylor College of Medicine, Houston, Texas, United States, 77030
Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.
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Baylor College of Medicine,
V. Reid Sutton, M.D., STUDY_CHAIR, Baylor College of Medicine
Frank Rauch, M.D., STUDY_CHAIR, McGill University
2026-12