Results 11 to 20 of about 4,180 (225)

Pediatric Dental Management of a Patient With Infantile Osteopetrosis in Remission: A Clinical Case Report. [PDF]

Case Rep Dent
Background Osteopetrosis is a rare genetic disorder characterized by increased bone density due to defective osteoclast function. Its clinical presentation varies according to subtype, and oral manifestations are frequent, potentially serving as early indicators of the disease.
Cruz-Morera MA, Molina-Chaves K, Gomez-Fernandez A.   +2 more
europepmc   +2 more sources

Retinal Pigment Epitheliopathy due to Sub-Optimal Recycling of Vitamin A (RESORVA): A Novel RDH11 -Related Phenotype. [PDF]

Clin Genet
RDH11 is a minor isoenzyme that catalyses the oxidation of 11‐cis‐retinol to 11‐cis‐retinal in the retinal pigment epithelium, alongside RDH5 and RDH10. Biallelic null variants in RDH11 lead to upregulation of RDH5 and RDH10 (transcriptional adaptation), maintaining 11‐cis‐retinal bioavailability, but still causing Retinal Pigment Epitheliopathy due to
Stephenson KAJ, Shao Z, Tumber A, Tavares E, Ahmed K, Higginbotham EJ, Marshall CR, Maynes JT, Rajala A, Rajala RVS, Héon E, Vincent A.   +11 more
europepmc   +2 more sources

Delayed Dental Development in Children With Non-Syndromic Hypodontia: A Cross-Sectional Study Using a Machine Learning Approach to Dental Age Estimation. [PDF]

Orthod Craniofac Res
ABSTRACT Objectives To investigate the influence of non‐syndromic hypodontia on radiographic dental development and to estimate dental age in children with bilateral mandibular agenesis using a machine learning approach. Materials and Methods This retrospective cross‐sectional study included 626 children aged 6–15 years (311 with dental agenesis, 315 ...
Crosnier M, Decaup PH, Santos F, Cavare A.   +3 more
europepmc   +2 more sources

Multidisciplinary Management of Oligodontia [PDF]

Medical Journal Armed Forces India, 2008
Agenesis of one or more teeth is one of the most common of human developmental anomalies. The term oligodontia refers to congenital absence of many but not all teeth whereas the term hypodontia implies the absence of only a few teeth. In the permanent dentition, hypodontia has a prevalence of 1.6% to 9.6%, excluding agenesis of the third molars ...
S M, Londhe, M, Viswambaran, P, Kumar
openaire   +2 more sources

Novel PAX9 compound heterozygous variants in a Chinese family with non-syndromic oligodontia and genotype-phenotype analysis of PAX9 variants [PDF]

Journal of Applied Oral Science, 2023
Studies have reported that >91.9% of non-syndromic tooth agenesis cases are caused by seven pathogenic genes. Objective To report novel heterozygous PAX9 variants in a Chinese family with non-syndromic oligodontia and summarize the reported genotype ...
Jiabao REN, Ya ZHAO, Yunyun YUAN, Jing ZHANG, Yulin DING, Meikang LI, Yilin AN, Wenjing CHEN, Li ZHANG, Boyu LIU, Shushen ZHENG, Wenjing SHEN   +11 more
doaj   +1 more source

Solitary median maxillary central incisor in association with taurodontism and oligodontia: A case report

Clinical Case Reports, 2023
Key Clinical Message In this case report, we have highlighted the probability of coinciding multiple dental anomalies, such as SMMCI, taurodontism, and oligodontia.
Yasmin Sheikhhassani, Arash Sarrafzadeh, Soheila Jadidi   +2 more
doaj   +1 more source

Detection of a rare AXIN2 variant in an Iranian family with hypodontia and oligodontia [PDF]

Journal of Dental Research, Dental Clinics, Dental Prospects, 2022
Background. Hypodontia, or the absence of one or more teeth during tooth formation, is a highly prevalent dental anomaly. Nevertheless, the main causes are still unknown.
Shiva Safari, Asghar Ebadifar, Hossien Najmabadi, Koorosh Kamali, Seyedeh Sedigheh Abedini, Mohammad Mousavi   +5 more
doaj   +1 more source

Acromelia‐oligodontia syndrome [PDF]

Clinical Case Reports, 2017
Key Clinical Message This case report describes a patient with ankyloglossia, oligodontia, unilateral hypoplasia of the zygoma and mandible, along with bilateral distal reduction anomalies of his limbs without long bone abnormalities.
Jyothirmai Talasila, Ramaswamy Pachigolla, Kiranmai V. S. N. Yarlagadda, Ramu Vuppala, Karl‐Heinz Grzeschik, Sai Kiran K.V.S, Catherine M. Rose, Gary S. Gottesman, Zsolt Urban   +8 more
openaire   +2 more sources

Nonsyandromic oligodontia: A rare case report

Medical Journal of Dr. D.Y. Patil University, 2015
Dental agenesis is the most common developmental anomaly in humans, which can be either in the form of anodontia, oligodontia, or hypodontia. Oligodontia can occur either as an isolated finding or as part of a syndrome.
Mayank Chaturvedi, Jigar Thakkar, Rekha Thaddanee, Ajeet Kumar Khilnani   +3 more
doaj   +1 more source

Analyses of oligodontia phenotypes and genetic etiologies

International Journal of Oral Science, 2021
Oligodontia is the congenital absence of six or more teeth and comprises the more severe forms of tooth agenesis. Many genes have been implicated in the etiology of tooth agenesis, which is highly variable in its clinical presentation.
Mengqi Zhou, Hong Zhang, Heather Camhi, Figen Seymen, Mine Koruyucu, Yelda Kasimoglu, Jung-Wook Kim, Hera Kim-Berman, Ninna M. R. Yuson, Paul J. Benke, Yiqun Wu, Feng Wang, Yaqin Zhu, James P. Simmer, Jan C-C. Hu   +14 more
doaj   +1 more source