Osteogenesis imperfecta: An overview

M Balasubramanian - 2023 - uptodate.com
Osteogenesis imperfecta (OI) is a disease encompassing a group of disorders mainly
characterized by bone fragility and is the most common form of heritable bone fragility. There …

Osteogenesis imperfecta type VII: an autosomal recessive form of brittle bone disease

LM Ward, F Rauch, R Travers, G Chabot, EM Azouz… - Bone, 2002 - Elsevier
Osteogenesis imperfecta (OI) is a heritable disease of bone with low bone mass and bone
fragility. The disease is generally classified into four types based on clinical features and …

Osteogenesis imperfecta, an ever‐expanding conundrum

FH Glorieux, P Moffatt - Journal of bone and mineral research, 2013 - academic.oup.com
Osteogenesis imperfecta (OI), or brittle bone disease, a rare heritable connective tissue
disorder, was described more than a century ago.(1) Its hallmark, bone fragility, may cause …

[HTML][HTML] Brittle Bone Disease: A Case Report

T Luis, AC Gonçalves, E Rodrigues, M Mendes… - Cureus, 2022 - ncbi.nlm.nih.gov
Brittle Bone Disease: A Case Report - PMC Back to Top Skip to main content NIH NLM Logo
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation Search PMC …

Introduction to Osteogenesis Imperfecta

PH Byers, CF Rustad - Osteogenesis Imperfecta: A Case-Based Guide to …, 2020 - Springer
Osteogenesis imperfecta (OI), also known as brittle bone disease, is a set of genetically and
clinically heterogeneous conditions characterized by bone fragility, susceptibility to fractures …

Osteogenesis imperfecta: from bench to bedside

R Kocijan - Wiener Medizinische Wochenschrift, 2015 - Springer
Osteogenesis imperfecta (OI) is a group of rare, inherited disorders with genetic and clinical
diversities. With a prevalence of 1: 10,000–1: 20,000, OI is considered as an “orphan …

Osteogenesis imperfecta

P Arundel, NJ Bishop - Bone and development, 2010 - Springer
Osteogenesis imperfecta (OI) is a group of rare heritable disorders characterized by varying
degrees of low bone mass and bone fragility. Overall, OI has an estimated prevalence of …

The evolution of the nosology of osteogenesis imperfecta

M Chetty, IA Roomaney, P Beighton - Clinical Genetics, 2021 - Wiley Online Library
Osteogenesis imperfecta (OI) is a relatively common genetic skeletal disorder with an
estimated frequency of 1 in 20 000 worldwide. The manifestations are diverse and although …

Osteogenesis imperfecta: clinical diagnosis, nomenclature and severity assessment

FS Van Dijk, DO Sillence - … journal of medical genetics Part A, 2014 - Wiley Online Library
Recently, the genetic heterogeneity in osteogenesis imperfecta (OI), proposed in 1979 by
Sillence et al., has been confirmed with molecular genetic studies. At present, 17 genetic …

News in osteogenesis imperfecta: from research to clinical management

B Aubry-Rozier, S Unger, A Bregou… - Revue Médicale …, 2015 - europepmc.org
Osteogenesis imperfecta (OI) is a rare genetic disease. Today we are able to propose an
adapted and efficient management to the patients with this rare disorder (and their families) …