Results 31 to 40 of about 32,840 (255)
Challenges of total knee arthroplasty in osteogenesis imperfecta: case report and literature review
Journal of International Medical Research, 2022 The majority of adults with mild osteogenesis imperfecta report significant functional impairment due to musculoskeletal concerns. Knee osteoarthritis is common in these patients.
Pavel Sponer +2 more
doaj +1 more source
Micro-CT Characterization of Human Trabecular Bone in Osteogenesis Imperfecta [PDF]
, 2011 Osteogenesis imperfecta (OI) is a genetic syndrome affecting collagen synthesis and assembly. Its symptoms vary widely but commonly include bone fragility, reduced stature, and bone deformity.
Albert, Carolyne +4 more
core +2 more sources
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
Helical mutations in type I collagen that affect the processing of the amino-propeptide result in an Osteogenesis Imperfecta/Ehlers-Danlos Syndrome overlap syndrome [PDF]
, 2013 Background: Whereas mutations affecting the helical domain of type I procollagen classically cause Osteogenesis Imperfecta (OI), helical mutations near the amino (N)-proteinase cleavage site have been suggested to result in a mixed OI/Ehlers-Danlos ...
De Paepe, Anne +9 more
core +2 more sources
The Lancet, 2016 Osteogenesis imperfecta is a phenotypically and molecularly heterogeneous group of inherited connective tissue disorders that share similar skeletal abnormalities causing bone fragility and deformity. Previously, the disorder was thought to be an autosomal dominant bone dysplasia caused by defects in type I collagen, but in the past 10 years ...
FORLINO, ANTONELLA, Marini, Joan C.
openaire +3 more sources
Infraclavicular block and anesthesia management in two cases with Osteogenesis Imperfecta
Van Tıp Dergisi, 2017 Osteogenesis imperfecta, is a rare autosomal hereditary connective tissue disease. In these cases, extremely fragile bones, other organ and body system disorders are prominent.
Cahide Kahraman, Abdullah Kahraman
doaj +1 more source
Minimally invasive orthodontics: elastodontic therapy in a growing patient affected by Dentinogenesis Imperfecta [PDF]
, 2017 AIM: The aim of the study was to report the use of an elastodontic therapy in a growing patient affected by Dentinogenesis Imperfecta, second class malocclusion, deep bite and lower arch crowding from the deciduous dentition to permanent one. CASE
IERARDO, GAETANO +4 more
core +1 more source
Stomatološko liječenje kod osteogenesis imperfecta [PDF]
, 2017 Osteogenesis imperfecta is a very rare heterogeneous genetic disorder associated with the development of connective tissue resulting in fragile bones and frequent fractures.
Hrvoje Brkić, Ivana Savić Pavičin
core +2 more sources
Bleeding assessment in a large cohort of patients with Osteogenesis Imperfecta
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 +1 more source
Orphanet Journal of Rare Diseases, 2018 On the occasion of the 13th International Conference on Osteogenesis imperfecta in August 2017 an expert panel was convened to develop an international consensus paper regarding physical rehabilitation in children and adolescents with Osteogenesis ...
Brigitte Mueller +17 more
doaj +1 more source