Results 81 to 90 of about 32,840 (255)

A cephalometric method to diagnosis the craniovertebral junction abnormalities in osteogenesis imperfecta patients [PDF]

, 2015
Osteogenesis imperfecta (OI) is a hereditary bone fragility disorder that in most patients is caused by mutations affecting collagen type I. Their typical oral and craneofacial characteristics (Dentinogenesis imperfecta type I and class III malocclusion),
de Nova García, Joaquín, Feijóo, Gonzalo, Garcilazo, Mario, Gutiérrez Díez, María Pilar, Mourelle Martínez, Mª Rosa, Ortega Aranegui, Ricardo, Ríos Rodenas, Mercedes   +6 more
core   +2 more sources

The Natural History of Dermatosparaxis Ehlers Danlos Syndrome: An Adult Case Series

American Journal of Medical Genetics Part A, Volume 197, Issue 4, April 2025.
ABSTRACT Dermatosparaxis Ehlers Danlos syndrome (dEDS) is a very rare monogenic EDS that occurs due to biallelic pathogenic variants in ADAMTS2. Fifteen individuals with dEDS have been reported in the literature, with the oldest being 19 years at follow‐up.
C. Angwin, P. Byers, E. Dulfer, N. Ghali, Juliette Harris, I. Hausser, Abigail McElroy, G. Sobey, F. S. van Dijk   +8 more
wiley   +1 more source

Ventriculosubgaleal shunt placement for hydrocephalus in osteogenesis imperfecta with novel compound heterozygous CRTAP variants

Human Genome Variation
Osteogenesis imperfecta is characterized by frequent fractures, bone deformities, and other systemic symptoms. Severe osteogenesis imperfecta may progress to hydrocephalus; however, treatment strategies for this complication remain unclear.
Shintaro Nakamura, Kyosuke Ibi, Hiroyuki Tanaka, Hirokazu Takami, Keita Okada, Nao Takasugi, Motohiro Kato, Naoto Takahashi, Takanobu Inoue   +8 more
doaj   +1 more source

Phase angle and World Health Organization criteria for the assessment of nutritional status in children with osteogenesis imperfecta

Revista Paulista de Pediatria
Objective: To compare the phase angle of patients with osteogenesis imperfecta treated at a tertiary university hospital with patients in a control group of healthy children, and to assess the nutritional status of these patients through the body mass ...
Vicky Nogueira Pileggi, Antonio Rodolpho Hakime Scalize, José Simon Camelo Junior   +2 more
doaj   +1 more source

Pectus excavatum in osteogenesis imperfecta type I treated with Nuss procedure after pamidronate therapy

Journal of Pediatric Surgery Case Reports, 2021
Osteogenesis imperfecta is a genetic disorder caused by mutations in genes affecting type I collagen that is mostly found in bone, skin and tendons. In addition to bone fragility and increased risk of fractures, patients with osteogenesis imperfecta can ...
Nelimar Cruz Centeno, Victor N. Ortiz Justiniano   +1 more
doaj  

Morphophunctional features of blood mononuclear cells culture in patients with osteogenesis imperfecta: clinicodiagnostic observation

Бюллетень сибирской медицины, 2010
The use of intramedullary bioactive osteosynthesis combined with Ilizarov’s apparatus is promoting to correction of skeletal deformations and is allowing putting patients with osteogenesis imperfecta on their legs.
I. A. Khlusov, T. V. Saprina, K. A. Nechayev, M. V. Dvornichenko, N. M. Shevtsova, K. V. Zaytsev, A. V. Popkov   +6 more
doaj   +1 more source

Longitudinal analysis of the audiological phenotype in osteogenesis imperfecta : a follow-up study [PDF]

, 2018
Objective. This prospective study involved a longitudinal analysis of the progression of hearing thresholds in patients with osteogenesis imperfecta. Methods.
Dhooge, Ingeborg, Martens, Sarie, Swinnen, Freya   +2 more
core   +2 more sources

Outcomes following surgical management of patellar instability in hypermobile patients are favourable compared to non‐operative management in non‐hypermobile patients: A systematic review and meta‐analysis

Journal of Experimental Orthopaedics, Volume 12, Issue 2, April 2025.
Abstract Purpose To assess the outcomes of surgical management of patellar instability in hypermobile patients. Methods Three online databases (PubMed, MEDLINE and EMBASE) were searched from inception to 27 September 2024, to identify studies investigating the surgical management options for patellar instability in hypermobile patients. Data pertaining
Joshua Dworsky‐Fried, Benjamin Blackman, Dan Cohen, Devin Peterson, Olufemi R. Ayeni, Volker Musahl, Darren de SA   +6 more
wiley   +1 more source

Modern classification and molecular-genetic aspects of osteogenesis imperfecta

Вавиловский журнал генетики и селекции, 2020
Osteogenesis imperfecta (imperfect osteogenesis in the Russian literature) is the most common hereditary form of bone fragility, it is a genetically and clinically heterogeneous disease with a wide range of clinical severity, often leading to disability ...
A. R. Zaripova, R. I. Khusainova
doaj   +1 more source

Kuulmislangus osteogenesis imperfecta haigetel. Haigusjuht. Kirjanduse ülevaade [PDF]

, 2017
29 aasta vanune naispatsient pöördus erakorralisena TÜ Kliinikumi kõrvakliinikusse seoses mõlemapoolse äkk-kuulmisnõrkusega. Patsiendi ülevaatuse järel oli esmaseks diagnoosiks idiopaatiline äkk-kuulmislangus, mida iseloomustab teadmata põhjusega ägeda ...
Chetverikova, Evgenia, Kasenõmm, Priit, Lepplaan, Maret   +2 more
core   +2 more sources