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Osteogenesis imperfecta type XVII: expansion of the phenotype
BackgroundBiallelic variants in SPARC are extremely rare, and have been reported in only a few cases of autosomal recessive osteogenesis imperfecta...
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Early Life Management of Osteogenesis Imperfecta
Purpose of ReviewThis review aims to provide a review of the multidisciplinary management of infants with osteogenesis imperfecta (OI) during the...
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Demographics and medical burden of osteogenesis imperfecta: a nationwide database analysis
SummaryThe epidemiological data on osteogenesis imperfecta (OI) in Asia is limited. This study, representing the first comprehensive epidemiological...
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Osteogenesis imperfecta
Osteogenesis imperfecta (OI) describes a group of rare diseases which are associated with an increased tendency to bone fractures. In addition to the...
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Pathogenic mechanisms of osteogenesis imperfecta, evidence for classification
Osteogenesis imperfecta (OI) is a connective tissue disorder affecting the skeleton and other organs, which has multiple genetic patterns, numerous...
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Current situation of osteogenesis imperfecta in Spain: results from a Delphi study
BackgroundOsteogenesis imperfecta (OI) is a rare disease characterized by low bone mass and bone fragility, associated with an increased risk of...
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Standardized growth charts for children with osteogenesis imperfecta
BackgroundOsteogenesis imperfecta (OI) is associated with short stature, which is mild, severe and moderate in OI types I, III and IV, respectively....
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Surgical treatment of scoliosis in patients with osteogenesis imperfecta: a single institution case series
BackgroundOsteogenesis imperfecta (OI) is a connective tissue disorder characterized by skeletal deformities, bone fragility, and spinal...
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Osteoid osteoma appearing after bony fracture in a girl with osteogenesis imperfecta
Osteoid osteoma (OO) is a common, benign bone tumor. However, there are no case reports of OO associated with osteogenesis imperfecta (OI), or...
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Project SATURN– a real-world evidence data collaboration with existing European datasets in Osteogenesis Imperfecta to support future therapies
Regulatory marketing authorisation is not enough to ensure patient access to new medicinal products. Health Technology Assessment bodies may require...
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Surgical outcomes for spinal deformity in osteogenesis imperfecta
Study designIRB approved retrospective review of the the SHOnet (Shriners Health Outcomes Network).
ObjectivesOsteogenesis imperfecta (OI) is the...
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Transition from Pediatric to Adult Health Care in Osteogenesis Imperfecta
PurposeHere, we review issues regarding the transition from pediatric to adult-focused health care for individuals with osteogenesis imperfecta (OI).
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Echocardiographic abnormalities and joint hypermobility in Chinese patients with Osteogenesis imperfecta
BackgroundVery little is known about the characteristics of echocardiographic abnormalities and joint hypermobility in Chinese patients with...
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The patient-related factors in revision procedures on tibia of patients with osteogenesis imperfecta treated with the Peter-Williams nail
ObjectiveTo investigate the patient-related factors that affect the revision rate for the tibia in patients with osteogenesis imperfecta treated with...
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Fixation techniques in lower extremity correction osteotomies and fractures in mild-to-severe osteogenesis imperfecta patients: evaluation of the results and complications
IntroductionOsteogenesis imperfecta is a genetic disorder leading to multiple fractures and deformities. Intramedullary rods have been used in the...
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The IMPACT Survey: the economic impact of osteogenesis imperfecta in adults
BackgroundThe IMPACT survey aimed to elucidate the humanistic, clinical and economic burden of osteogenesis imperfecta (OI) on individuals with OI,...
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Anthropometrics of Polish children with osteogenesis imperfecta: a single-centre retrospective cohort study
BackgroundOsteogenesis imperfecta (OI) causes a number of abnormalities in somatic development. The predominant symptoms are reduced bone mass and an...
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Access to care among patients with osteogenesis imperfecta during the COVID-19 pandemic
SummaryIn a cross-sectional study assessing the experiences of individuals with osteogenesis imperfecta accessing care during the COVID-19 pandemic,...
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Keratoconus tomographic indices in osteogenesis imperfecta
PurposeOsteogenesis imperfecta (OI) is a rare inherited disease affecting collagen-rich tissues. Ocular complications have been reported such as thin...
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Short-term effects of Mediterranean diet on nutritional status in adults affected by Osteogenesis Imperfecta: a pilot study
BackgroundOsteogenesis Imperfecta (OI) is a heterogeneous group of connective tissue disorders, characterized by varying degrees of skeletal...
