Results 1 to 10 of about 35,518 (257)
Bleeding assessment in a large cohort of patients with Osteogenesis Imperfecta [PDF]
Orphanet Journal of Rare DiseasesBackground Osteogenesis Imperfecta (OI) is characterised by bone fragility. Among several features, easy bruising and multiple case reports on haemorrhagic events have been reported.
Koert Gooijer +5 more
doaj +2 more sources
Journal of Indian Society of Pedodontics and Preventive Dentistry, 2006 Osteogenesis imperfecta is an inherited disorder of the connective tissue. The extreme bone fragility seen in patients suffering from osteogenesis imperfecta pose a series of problems with regard to behavior management and rendering of quality dental ...
Gupte Tejashri +4 more
doaj +2 more sources
Orphanet Journal of Rare Diseases, 2023 Background Osteogenesis imperfecta (OI) is a rare heritable connective tissue disorder primarily characterised by skeletal deformity and fragility, and an array of secondary features.
Maria Rapoport +12 more
doaj +1 more source
Children, 2023 Osteogenesis Imperfecta (OI) is a rare genetic disorder in Type I collagen characterized by bone fractures, fragility, and deformity. Current treatments are focused on decreasing fracture rates, improving bone strength, and improving overall global ...
Jill Flanagan +5 more
doaj +1 more source
Jornal de Pediatria, 2021 Objective: To describe postural balance, handgrip strength and mobility in children and adolescents with different types of osteogenesis imperfecta. Methods: Cross-sectional study.
Giovana Coêlho +3 more
doaj +1 more source
Indian Journal of Endocrinology and Metabolism, 2017 Osteogenesis imperfecta is a common heritable connective tissue disorder. Nearly ninety percent are due to Type I collagen mutations. Type I-IV are autosomal dominant, and Type VI-XIII are autosomal recessive. They are Graded 1-5 based on severity. Genomic testing is done by collagen analysis from fibroblasts.
Justin Easow Sam, Mala Dharmalingam
openaire +6 more sources
Osteogenesis imperfecta and potential therapies
Journal of Education, Health and Sport, 2022 Background: Osteogenesis imperfecta (OI) is a genetically determined disorder of connective tissue. In this article we reviewed epidemiology, types of OI, pathophysiology, symptoms and potential therapies.
Mateusz Fabis +6 more
doaj +1 more source
Frontiers in Cell and Developmental Biology, 2021 Osteogenesis imperfecta is a genetic disorder disrupting bone development and remodeling. The primary causes of osteogenesis imperfecta are pathogenic variants of collagen and collagen processing genes.
Christopher L. Schwebach +2 more
doaj +1 more source
Ear, Nose & Throat Journal, 2000 Osteogenesis imperfecta (OI), an inherited connective tissue disorder of remarkable clinical variability, is caused by a quantitative or qualitative defect in collagen synthesis and is characterised by bone fragility. The number of fractures and deformities, and the age at which they begin greatly influence the prognosis and the achievement of walking ...
E, Palacios, G, Valvassori
openaire +4 more sources
Fatigue in adults with Osteogenesis Imperfecta
BMC Musculoskeletal Disorders, 2020 Background Osteogenesis Imperfecta (OI) is characterized by bone fragility, and features such as blue sclerae, dentinogenesis imperfecta, hearing loss, ligamentous laxity and short stature can be present.
Arjan G. J. Harsevoort +6 more
doaj +1 more source