Results 71 to 80 of about 35,518 (257)

Osteogenesis imperfecta and pregnancy: a case report

Journal of Medical Case Reports, 2019
Background Osteogenesis imperfecta is a rare connective tissue disorder of varying phenotypic presentations. In pregnancies complicated by osteogenesis imperfecta, there is an increased risk to both the mother and fetus.
Felix Chamunyonga, Kudzaishe Lloyd Masendeke, Bismark Mateveke   +2 more
doaj   +1 more source

Clinic Case of Rare Type VI Osteogenesis Imperfecta

Педиатрическая фармакология, 2019
Osteogenesis imperfect is genetically heterogeneous group of diseases which are characterized by bone brittleness and fractures. It was thought for a long time that this is happening due to mutations in collagen genes.
Olga N. Ignatovich, Leyla S. Namazova-Baranova, Tea V. Margieva, Natalia V. Zhurkova, Kirill V. Savostyanov, Alexander V. Pushkov   +5 more
doaj   +1 more source

Prevalence, Characteristics, and Predictive Factors of Dentoalveolar and Spreading Odontogenic Infections in Children Treated Under General Anaesthesia

International Journal of Paediatric Dentistry, Volume 36, Issue 1, Page 13-18, January 2026.
ABSTRACT Background Children receiving dental treatment under general anesthesia (GA) often have odontogenic infections (OIs). Early detection and treatment of patients at risk of OIs can improve oral health and prevent early tooth extractions. Aim To investigate the prevalence, characteristics, and predictive factors of OIs in children receiving ...
Annmari Hyppänen, Fanny Mussalo, Johanna Snäll, Heikki Alapulli, Eija Salmela   +4 more
wiley   +1 more source

A rare case of Osteogenesis Imperfecta Type III [PDF]

, 2014
Osteogenesis imperfecta (OI) the most common genetic cause of osteoporosis is a generalized disorder of connective tissue, characterized by increased bone fragility, low bone mass, recurrent fractures & numerous extra-osseous features with unusual ...
Nagaraj MV, Jehangir HM
core   +1 more source

Dental management of a child with a rare bone disorder: a case report with a six-year follow up

RGO: Revista Gaúcha de Odontologia, 2020
Osteogenesis imperfecta is a rare genetic disorder involving abnormal type I collagen composition that compromises bone and collagen-rich tissues. Individuals with Osteogenesis imperfecta exhibit oral and systemic abnormalities, including dentinogenesis ...
Suélen Alves TEIXEIRA, Mariana Oliveira GUIMARÃES, Natália Mendes De Matos CARDOSO, Raiane Machado MAIA, Natália Cristina Ruy CARNEIRO, Ana Cristina BORGES-OLIVEIRA   +5 more
doaj   +1 more source

Exonic Variation and Its Clinical Impact in 7221 Old Order Amish

American Journal of Medical Genetics Part A, Volume 197, Issue 12, December 2025.
ABSTRACT The Amish of Lancaster County, PA has been the focus of genetic studies for many years due to its demographic history and unique genetic makeup that includes a historical bottleneck event and subsequent genetic drift, resulting in a marked decrease in genetic diversity and increased frequency of some variants that have substantially shaped the
Braxton D. Mitchell, Ebuka Onyenobi, Joshua P. Lewis, Brady Gaynor, James A. Perry, Kristin Maloney, Jeffrey R. O'Connell, Jessica Tiner, Amber L. Beitelshees, Cristopher V. Van Hout, Patrick F. McArdle, Huichun Xu, Erik G. Puffenberger, Karlla W. Brigatti, Melanie Daue, Hilary B. Whitlatch, Anna Alkelai, Alejandro A. Schäffer, John Overton, Elizabeth A. Streeten, Toni I. Pollin, Alan R. Shuldiner   +21 more
wiley   +1 more source

Dentinogenesis imperfecta [PDF]

, 2018
Zusammenfassung: Unter Dentinogenesis imperfecta versteht man eine kongenitale Dysplasie des Dentins, die isoliert oder im Zusammenhang mit einer hereditären Allgemeinerkrankung wie der Osteogenesis imperfecta auftreten kann.
Schulte, J.M., van Waes, H.
core  

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

Early life functional transitions impact craniofacial morphology in osteogenesis imperfecta

The Anatomical Record, Volume 308, Issue 12, Page 3157-3174, December 2025.
Abstract Early life behaviors have a profound role in shaping adult craniofacial morphology. During early life, all mammals undergo the dynamic transition from suckling to mastication, a period coinciding with rapid cranial biomineralization. Osteogenesis imperfecta (OI), a genetic disorder that impacts the production of type I collagen, disrupts ...
Courtney A. Miller, Tanusha Emanuel, Rachel A. Menegaz   +2 more
wiley   +1 more source

SATURN: assessing the feasibility of utilising existing registries for real-world evidence data collection to meet patients, regulatory, health technology assessment and payer requirements

Orphanet Journal of Rare Diseases
Background SATURN (Systematic Accumulation of Treatment practices and Utilisation, Real world evidence, and Natural history data) for the rare condition osteogenesis imperfecta (OI) has the objective to create a common core dataset by utilising existing,
L. Sangiorgi, M. Boarini, M. Mordenti, V. Wang, I. Westerheim, R. T. Skarberg, M. Cavaller-Bellaubi, James Clancy, R. Pinedo-Villanueva, E. J. V. Lente, M. Marchetti   +10 more
doaj   +1 more source