Results 61 to 70 of about 294 (134)

Combined Mutations of LTBP3 and COL5A1A in Geleophysic Dysplasia

Case Reports in Medicine, Volume 2026, Issue 1, 2026.
Geleophysic dysplasias (GDs) are uncommon genetically predisposed abnormalities that interfere with skeletal growth and formation. Several GD subtypes have different clinical manifestations. The current report presents the case of a 7‐year‐old Syrian boy with a medical history of repeated bone fractures and noticeable facial characteristics.
Adel Alsharei, Mohammad T. Batayneh, Firas Zraiqi, Yazan M. Al-Omari, Abdullah M. Al-Ali, Almu’atasim Khamees, Saleh A. Ba-shammakh, Aiman Al Sharei, Raed M. Al-Zoubi, Mazhar S. Al Zoubi, Semonti Nandi   +10 more
wiley   +1 more source

Monoradicular Primary Maxillary Left Second Molar: A Rare Root Morphology and Review of the Literature

Case Reports in Dentistry, Volume 2026, Issue 1, 2026.
Understanding the anatomical variations between primary and permanent dentitions and familiarity with the internal and external root morphology are essential for dental practitioners to distinguish root morphological anomalies. A search in dental literature reveals the occurrence of monoradicular molars in primary dentition; especially the ...
Basim Almulhim, Hannah Wesley
wiley   +1 more source

A review on non-syndromic tooth agenesis associated with PAX9 mutations

Japanese Dental Science Review, 2018
Summary: Tooth agenesis in the reduction of tooth number which includes hypodontia, oligodontia and anodontia is caused by disturbances and gene mutations that occur during odontogenesis.
Nurul Hasyiqin Fauzi, Yunita Dewi Ardini, Zarina Zainuddin, Widya Lestari   +3 more
doaj   +1 more source

Phenotypic and Genotypic Features of Thai Patients With Nonsyndromic Tooth Agenesis and WNT10A Variants

Frontiers in Physiology, 2020
Tooth agenesis is one of the most common orodental anomalies that demonstrate phenotypic and genotypic heterogeneity with a prevalence of 2.5%–7%. Mutations in WNT10A have been proposed to be the most common cause of nonsyndromic tooth agenesis (NSTA ...
Charinya Kanchanasevee, Kanokwan Sriwattanapong, Thanakorn Theerapanon, Sermporn Thaweesapphithak, Wanna Chetruengchai, Wanna Chetruengchai, Thantrira Porntaveetus, Vorasuk Shotelersuk, Vorasuk Shotelersuk   +8 more
doaj   +1 more source

Intrafamilial Phenotypic Variability and Dental Management of Ectodermal Dysplasia in Three Siblings: A Case Report

Case Reports in Dentistry, Volume 2026, Issue 1, 2026.
Ectodermal dysplasia (ED) is a heterogeneous group of inherited disorders affecting ectoderm‐derived structures, with dental anomalies representing a major clinical concern. This case report describes three siblings from a Tunisian family presenting marked intrafamilial phenotypic variability of ED.
Farah Chouchene, Fatma Masmoudi, Ahlem Baaziz, Andrea Scribante   +3 more
wiley   +1 more source

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

Case Reports in Dentistry, Volume 2026, Issue 1, 2026.
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.
Maria Amalia Cruz-Morera, Katherine Molina-Chaves, Adrian Gomez-Fernandez, Hannah Wesley   +3 more
wiley   +1 more source

Prevalence and Patterns of Five Dental Anomalies in Athletes in Qatar: A Panoramic Radiographic Study

International Journal of Dentistry, Volume 2026, Issue 1, 2026.
Objective This study investigated the prevalence of dental anomalies within the athlete population in Qatar using panoramic radiographs. Design This retrospective, cross‐sectional study was conducted at Aspetar Hospital in Qatar. Materials and Methods Digital panoramic radiographs of 5000 records of athletes attending dental department were ...
Atef Hashem, Dania Almasri, Karim Chamari, Montassar Tabben, Noof AlMabrd, Mohammed Alsaey, Hannah Wesley   +6 more
wiley   +1 more source

De Novo Missense Variant in TP63 Gene: Insights on Clinical and Molecular Investigations

The Journal of Gene Medicine, Volume 27, Issue 11, November 2025.
We report a heterozygous missense variant (c.184G〉C, p.Val62Leu) in exon 2 of the TP63 gene in a male patient with ectodermal dysplasia characterized by hypohidrosis, sparse hair, tooth agenesis, cleft lip/palate, hearing loss, and syndactyly. The variant was absent from public databases and unaffected relatives.
Jilong Chen, Xufeng Xi, Xiaoman Xu, Yao Lin   +3 more
wiley   +1 more source

Axenfeld–Rieger Syndrome: A Case Report and Brief Review [PDF]

Journal of South Asian Association of Pediatric Dentistry
Axenfeld–Rieger Syndrome (ARS) is a rare autosomal dominant genetic disorder with an overall incidence of 1:200,000 that has mainly ocular, periumbilical, and dental abnormalities like oligodontia/hypodontia, microdontia, and delayed eruption of ...
Amina Sultan, Simran Uppal, Akanksha Juneja   +2 more
doaj   +1 more source

oligodontia

Citation: 'oligodontia' in the IUPAC Compendium of Chemical Terminology, 5th ed.; International Union of Pure and Applied Chemistry; 2025. Online version 5.0.0, 2025. 10.1351/goldbook.11031 • License: The IUPAC Gold Book is licensed under Creative Commons Attribution-ShareAlike CC BY-SA 4.0 International for individual terms.
openaire   +1 more source