Symptoms of ectodermal dysplasia according to Freire-Maia and Pinheiro

Ectodermal dysplasia (ED) is a congenital syndrome of developmental disorders in tissues derived from the ectoderm. The inheritance of ED may be autosomal dominant or recessive. The distinctive features of this syndrome involve the skin and appendages, dentition, eye, ear, adrenal glands, nervous system and facial part of the skull. Over 200 forms of this disease are described, about 120 include symptoms located in the oral cavity and dentition. One of the several classifications, by Freire-Maia and Pinheiro, is based on the presence of four leading clinical symptoms: hair disorders, dental anomalies, nail disorders and dyshidrosis. ED needs multidisciplinary treatment because of the multitude and variety of its symptoms

Effect of Tooth Agenesis on Mandibular Morphology and Position

Congenital missing teeth (OMIM #106600) is the most common dental abnormality. The aim of the study was to evaluate the effects of tooth agenesis on the total mandibular length, length of the mandibular body and alveolar process, and the mandibular anteroposterior position. The material was obtained from the Department of Orthodontics, Medical University of Warsaw. The study group included 116 patients aged 9–18 years with a congenital absence of at least two permanent tooth buds in the maxilla and/or mandible (mean: 6.2 teeth missing/patient). All patients were Caucasians: 68 (59%) females and 48 (41%) males. The control group included 115 patients without tooth agenesis matched with the age and gender of the study group. A cephalometric analysis was performed, and it was focused on assessing anteroposterior mandibular measurements. This assessment was based on 17 measurements (12 linear and 5 angular). Statistical analysis of the cephalometric measurements between the study group and the control group showed significant changes regarding selected mandibular measurements. Tooth agenesis does not affect the total length of the mandible and the length of the mandibular body, but it might reduce the length of the mandibular arch length and result in a more retrusive mandibular position

Application of Artificial Intelligence (AI) in a Cephalometric Analysis: A Narrative Review

In recent years, the application of artificial intelligence (AI) has become more and more widespread in medicine and dentistry. It may contribute to improved quality of health care as diagnostic methods are getting more accurate and diagnostic errors are rarer in daily medical practice. The aim of this paper was to present data from the literature on the effectiveness of AI in orthodontic diagnostics based on the analysis of lateral cephalometric radiographs. A review of the literature from 2009 to 2023 has been performed using PubMed, Medline, Scopus and Dentistry & Oral Sciences Source databases. The accuracy of determining cephalometric landmarks using widely available commercial AI-based software and advanced AI algorithms was presented and discussed. Most AI algorithms used for the automated positioning of landmarks on cephalometric radiographs had relatively high accuracy. At the same time, the effectiveness of using AI in cephalometry varies depending on the algorithm or the application type, which has to be accounted for during the interpretation of the results. In conclusion, artificial intelligence is a promising tool that facilitates the identification of cephalometric landmarks in everyday clinical practice, may support orthodontic treatment planning for less experienced clinicians and shorten radiological examination in orthodontics. In the future, AI algorithms used for the automated localisation of cephalometric landmarks may be more accurate than manual analysis

Novel Candidate Genes for Non-Syndromic Tooth Agenesis Identified Using Targeted Next-Generation Sequencing

Non-syndromic tooth agenesis (ns-TA) is one of the most common dental anomalies characterized by the congenital absence of at least one permanent tooth (excluding third molars). Regarding the essential role of genetic factors in ns-TA aetiology, the present study aimed to identify novel pathogenic variants underlying hypodontia and oligodontia. In a group of 65 ns-TA patients and 127 healthy individuals from the genetically homogenous Polish population, the coding sequences of 423 candidate genes were screened using targeted next-generation sequencing. Pathogenic and likely pathogenic variants were identified in 37 (56.92%) patients, including eight nucleotide alternations of genes not previously implicated in ns-TA (CHD7, CREBBP, EVC, LEF1, ROR2, TBX22 and TP63). However, since only single variants were detected, future research is required to confirm and fully understand their role in the aetiology of ns-TA. Additionally, our results support the importance of already known ns-TA candidate genes (AXIN2, EDA, EDAR, IRF6, LAMA3, LRP6, MSX1, PAX9 and WNT10A) and provide additional evidence that ns-TA might be an oligogenic condition involving the cumulative effect of rare variants in two or more distinct genes

Dentofacial characteristics of children and adolescents with foetal alcohol spectrum disorders: a comparison with matched controls

Abstract Background Foetal alcohol spectrum disorders (FASD) include somatic and neurological developmental disturbances after prenatal alcohol exposure, including facial anomalies. However, the knowledge of the orthodontic skeletal and dental cephalometric relations in this group is limited. The aim of the study was to assess the dentofacial characteristics of children and adolescents with FASD and to compare them with a matched control group. Methods The study group comprised all available children and adolescents diagnosed with FASD (> 7 years of age) in whom good quality cephalograms were available. The control group comprised non-syndromic, orthodontically untreated children with normal occlusion and skeletal relations matched with age and gender. Cephalometric analysis included eighteen linear and angular measurements. The general linear model for repeated measures regarding age, gender and the type of FASD was applied. Results The group with FASD included 35 individuals (21 girls and 14 boys) aged 7–18 years including 21 with foetal alcohol syndrome. The mean age in the study and the control group was 12.8 years (SD, range 3.2, 7.1–18.1) and 13.0 (SD, range 2.9, 9.1–18.1), respectively. Statistically significant differences between the groups were found in 15 out of 18 of the cephalometric measurements (83%). In children with FASD the mandible was more retrusive, the incisors were more proclined and the mandibular incisors and the lips were more protruded when compared with controls. There was no significant evidence of an influence of age, gender or FASD type. Conclusions Dentofacial characteristics of children and adolescents with FASD significantly differ from controls. Early orthodontic diagnosis and prophylaxis should play a part of the interdisciplinary care of patients in this group