The patient clinical journey and socioeconomic impact of osteogenesis imperfecta: a systematic scoping review

M Rapoport, MB Bober, C Raggio, LL Wekre… - Orphanet Journal of …, 2023 - Springer
Background Osteogenesis imperfecta (OI) is a rare heritable connective tissue disorder
primarily characterised by skeletal deformity and fragility, and an array of secondary …

Pain phenotypes in rare musculoskeletal and neuromuscular diseases

A Tucker-Bartley, J Lemme, A Gomez-Morad… - Neuroscience & …, 2021 - Elsevier
For patients diagnosed with a rare musculoskeletal or neuromuscular disease, pain may
transition from acute to chronic; the latter yielding additional challenges for both patients and …

Ocular characteristics and complications in patients with osteogenesis imperfecta: a systematic review

S Treurniet, P Burger, EAE Ghyczy… - Acta …, 2022 - Wiley Online Library
Purpose Osteogenesis imperfecta (OI) is a rare inherited heterogeneous connective tissue
disorder characterized by bone fragility, low bone mineral density, skeletal deformity and …

Sclerostin antibody reduces long bone fractures in the oim/oim model of osteogenesis imperfecta

M Cardinal, J Tys, T Roels, S Lafont, MS Ominsky… - Bone, 2019 - Elsevier
Osteogenesis imperfecta type III (OI) is a serious genetic condition with poor bone quality
and a high fracture rate in children. In a previous study, it was shown that a monoclonal …

COL1A1/2 Pathogenic Variants and Phenotype Characteristics in Ukrainian Osteogenesis Imperfecta Patients

L Zhytnik, K Maasalu, A Pashenko, S Khmyzov… - Frontiers in …, 2019 - frontiersin.org
Osteogenesis imperfecta (OI) is a hereditary bone disorder caused by defects of type I
collagen. Although up to 90% of patients harbor pathogenic variants in the COL1A1/2 gene …

Oral health-related quality of life in children with osteogenesis imperfecta

JM Cachia Mintoff, M Riddington, S Parekh - European Archives of …, 2022 - Springer
Purpose Osteogenesis imperfecta (OI) results from mutations in the genes involved in the
modification or biosynthesis of collagen. This study aimed to assess the oral health-related …

[PDF][PDF] Clinical Manifestations and Medical Imaging of Osteogenesis Imperfecta: Fetal Through Adulthood.

JS Weaver, JW Revels, JM Elifritz, B Whitlow… - Acta medica …, 2021 - researchgate.net
The aim of this paper is to describe the varying clinical and imaging manifestations of
Osteogenesis Imperfecta (OI) in the fetus, the child, and the adult. OI is a genetic disorder …

Дисплазия соединительной ткани

ТА Фомичева, АЛ Балашов - Университетский терапевтический …, 2020 - ojs3.gpmu.org
Аннотация Дисплазия соединительной ткани (ДСТ)-это гетерогенная группа
заболеваний многофакторной природы, обусловленная вовлечением в патогенез …

Osteogenesis Imperfecta: One Disease, Two or More Faces: A Case Report

AL Chhiba, FL Nakwa, K Thandrayen - Case Reports in Clinical Medicine, 2023 - scirp.org
Being such a rare condition in paediatrics, osteogenesis imperfecta (OI) is not a diagnosis
which is made often. It is however, a diagnosis necessitating early diagnosis and timeous …

[PDF][PDF] Osteogénesis imperfecta: revisión de la literatura actual

TCP Fernando, RTO Jefferson… - Revista Ecuatoriana …, 2019 - pediatriaecuador.org
La osteogénesis imperfecta (OI) abarca un grupo de enfermedades de origen genético,
caracterizadas por un aumento de la fragilidad ósea, debido a una alteración cualitativa y …