Results 71 to 80 of about 15,328 (193)

Management of Osteogenesis Imperfecta Complicated by Severe Pneumonia in a Resource‐Limited Setting: A Case Report

Case Reports in Pediatrics, Volume 2026, Issue 1, 2026.
Introduction Osteogenesis imperfecta (OI) is a rare genetic disorder characterized by bone fragility, skeletal deformities, and multisystem involvement, with respiratory complications representing a major cause of morbidity and mortality. Intrinsic pulmonary abnormalities, restrictive physiology from scoliosis, and impaired secretion clearance increase
Bipesh Kumar Shah, Diwakar Koirala, Shilu Upreti, Megha Mahato, Bivek Mishra, Ramesh Sapkota, Dibya Raj Chaudhary, Nikhat Kaura   +7 more
wiley   +1 more source

Osteogenesis imperfecta and dentinogenesis imperfecta: associated disorders

, 2015
This paper presents a review of dentinogenesis imperfecta occurring in patients with osteogenesis imperfecta. The systemic manifestations and the oral aspects of dentinogenesis imperfecta in osteogenesis imperfecta are discussed, and an illustrative case
Tenuta, L. M. A., Vieira, A. L. F., Machado, M. A. D. M., Rios, D.   +3 more
core  

Dentinogenesis imperfecta type II: a case report

, 2021
Objetivo: Dentinogênese imperfeita (DI) tipo II é um distúrbio raro do desenvolvimento da dentina com herança autossômica dominante, afetando aspectos funcionais e estéticos das dentições decídua e permanente.
Cezário, Erika Storck, Leite, Daniel Alves, Morais, Bruno Carvalho Albeny, Americano, Gabriela Caldeira Andrade, Silva, Frederico Marques da, Bruno Carvalho Albeny Morais, Frederico Marques da Silva, Daniel Alves Leite, Erika Storck Cezário, Gabriela Caldeira Andrade Americano   +9 more
core   +1 more source

Dentinogénesis imperfecta tipo II: Reporte de un caso

Revista de Odontopediatria Latinoamericana, 2013
La Dentinogénesis Imperfecta es un desorden genético de carácter hereditario autosómico dominante, que se caracteriza por defectos en la dentina de ambas denticiones.
Magdalena-San Martín, Leonie-Lamothe, Paula-Drexler, Raúl-Casamayou   +3 more
doaj  

Expanding the Clinical Spectrum of Bruck Syndrome: A Case Report and Literature Review

Case Reports in Pediatrics, Volume 2026, Issue 1, 2026.
Background Bruck syndrome is a rare autosomal recessive disorder characterized by osteogenesis imperfecta–like bone fragility and congenital joint contractures. Clinical overlap with other connective tissue disorders makes early diagnosis challenging, and genetic testing remains essential.
Ansam Nafah, May Shihab, Reem Shihab, Lana M. Dweekat, Hala O. Abdallah, Andrea Scaramuzza   +5 more
wiley   +1 more source

A Novel Splice Variant in the COL1A1 Gene Leads to Exon 46 Skipping and Osteogenesis Imperfecta

Human Mutation, Volume 2026, Issue 1, 2026.
Background Osteogenesis imperfecta (OI) is a clinical and genetic disorder characterised by bone fragility, growth deficiency and skeletal deformity. Ninety per cent of OI cases are attributable to autosomal dominant variants in the COL1A1 and COL1A2 genes.
Yujun Zhang, Huibing Liu, Ailan Yin, Siping Liu, Wanfei Huang, Yi Zhang, Bei Jia, Stuart Scott   +7 more
wiley   +1 more source

Oral rehabilitation of a child with dentinogenesis imperfecta – case report [PDF]

, 2016
eport the clinic case of a 5-yearold boy with presenting yellow-gray teeth and generalized severe tooth crown wear. Case report: After clinical and radiographic examination, he was diagnosed with dentinogenesis imperfecta.
Rayen Milanao Drugowick, José Carlos Pettorossi Imparato, Kelly Maria Silva Moreira, Juliana Braga Reis, Cibele Aparecida Silva   +4 more
core   +1 more source

Dentinogenesis imperfecta type II: case report.

, 1996
A case of dentinogenesis imperfecta type II is described. The authors also present a brief literature review and focus on the difficulty in treating such cases.\ud ...
Modesto, A, Portella, W, Alves, A C, Vieira, A R   +3 more
core  

Dentinogenesis Imperfecta - Clinical Presentation and Management

, 2010
Dentinogenesis imperfecta (DI) is a hereditary condition which affects the development of dentine in both the primary and permanent dentitions. Three types of DI have been described in the literature. The presentation of DI is variable, depending on the
Harmeet Dhaliwal, Sarah McKaig
core   +1 more source

Treatment of anterior open bite in a patient with dentinogenesis imperfecta [PDF]

Tsujimoto Takayuki, Kurosaka Hiroshi, Yamashiro Takashi. Treatment of anterior open bite in a patient with dentinogenesis imperfecta. AJO-DO Clinical Companion 4, 303 (2024); https://doi.org/10.1016/j.xaor.2024.05.001.Dentinogenesis imperfecta (DGI) is a
Yamashiro, Takashi, Tsujimoto, Takayuki, Kurosaka, Hiroshi   +2 more
core   +2 more sources