Results 81 to 90 of about 35,518 (257)

New Aspects of Genetic Basis, Classification and Treatment of Osteogenesis Imperfecta: Literature Review

Педиатрическая фармакология, 2015
Osteogenesis imperfecta is characterized by increased congenital brittleness of bones with a broad spectrum of clinical manifestations — from perinatal/lethal form and severe bone deformities to the mildest forms.
G. T. Yakhyayeva, L. S. Namazova-Baranova, T. V. Margieva   +2 more
doaj   +1 more source

Human interparietal bones: Examination of existing classification schemes and development of a graphic library depicting variations

The Anatomical Record, Volume 308, Issue 12, Page 3186-3196, December 2025.
Examples from the graphic library depicting morphologies of interparietal bones, ossicles at lambda, mendosal sutures, and intrasutural ossicles. Abstract Due to its complex ossification during development, the superior region of the human occipital bone is a frequent site of supernumerary bones known as interparietal bones.
Melissa D. Clarkson, Rhian R. Dunn, Joseph T. Hefner, Holly A. Long, Micayla C. Spiros   +4 more
wiley   +1 more source

Macroscopic Anisotropic Bone Material Properties in Children with Severe \u3cem\u3eOsteogenesis imperfecta\u3c/em\u3e [PDF]

, 2017
Children with severe osteogenesis imperfecta(OI) typically experience numerous fractures and progressive skeletal deformities over their lifetime. Recent studies proposed finite element models to assess fracture risk and guide clinicians in determining ...
Albert, Carolyne, Harris, Gerald, Jameson, John, Smith, Peter, Tarima, Sergey   +4 more
core   +1 more source

Diagnostic conundrums in antenatal presentation of a skeletal dysplasia with description of a heterozygous C-propeptide mutation in COL1A1 associated with a severe presentation of osteogenesis imperfecta [PDF]

, 2016
Prompt and accurate diagnosis of skeletal dysplasias can play a crucial role in ensuring appropriate counseling and management (both antenatal and postnatal).
Bonafe, Cole, Lindahl, Lu, McInerney-Leo, Pace, Sillence, Symoens, Takagi, Takagi, Van Dijk   +10 more
core   +1 more source

Osteogenesis Imperfecta [PDF]

Autopsy and Case Reports, 2018
Bruno Kusznir Vitturi, Amanda Frias, Fabiana Toledo Bueno Pereira, José Donato de Próspero, Caroline Queren Fernandes, Geanete Pozzan   +5 more
openaire   +4 more sources

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

Systematic Review on the Incidence of Bisphosphonate Related Osteonecrosis of the Jaw in Children Diagnosed with Osteogenesis Imperfecta

eJournal of Oral Maxillofacial Research, 2014
Objectives: To conduct a systematic review of epidemiological literature to determine the incidence of bisphosphonate related osteonecrosis of the jaw occurring either spontaneously or after dental surgery, in children and adolescents diagnosed with ...
Anusha Adeline Hennedige, Jap Jayasinghe, Janette Khajeh, Tatiana V. Macfarlane   +3 more
doaj   +1 more source

Development on the Proficiency of Diagnosis and Clinical Care for Rare Diseases in Young Physicians in China

Health Care Science, Volume 4, Issue 6, Page 414-423, December 2025.
This figure presents a six‐pillar conceptual framework detailing key strategies—including mentorship, specialized immersion, integration with curricula, continuous career development, and international collaboration—to enhance proficiency in rare disease diagnostics and clinical care among young physicians in China.
Ge Wu, Yongzhang Miao, Siyuan Fan, Wanru Duan, Junyan Qian, Dawei Wu, Eray Yihui Zhou, Zhongli Xu, Jing Xie, Mengchun Gong, Shuyang Zhang   +10 more
wiley   +1 more source

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

A novel MBTPS2 missense variant identifying keratosis follicularis spinulosa decalvans in a case of neonatal erythroderma

JDDG: Journal der Deutschen Dermatologischen Gesellschaft, EarlyView.
Edwin Cuperus, Michel van Geel, Virginie JM Verhoeven, Suzanne M Koudijs, Gerharda H Boerman, Angela M Tjiam, N Margreth van der Lugt, Suzanne GMA Pasmans   +7 more
wiley   +1 more source