Malocclusion genetics

OBJECTIVE: To determine whether the gonial angle on digital panoramic radiographs is associated with vitamin D receptor ( VDR ) Taql polymorphism. METHODS: Genomic DNA samples were collected from the buccal mucosa of patients aged 26-43 years. TaqMan assay for single nucleotide polymorphism genotyping was used to detect the genotype of Taql polymorphism. The gonial angle was measured bilaterally on panoramic radiography. The normal gonial angle was fixed as 121...

Skeletal Class III malocclusion possess a difficult challenge to treat for clinicians. They are multifactorial and include genetic and environmental factors. Early intervention of Class III needs orthopedic correction, whereas, in adults, orthodontic camouflage can be done to treat mild cases while severe skeletal discrepancies demand orthognathic surgery along with orthodontic therapy. In this case report, a case of mandibular prognathism with Bilateral Sagittal Split Osteotomy (BSSO) setback was presented...

BACKGROUND: Cystathionine beta synthase deficiency (causing classical homocystinuria) has been associated with high-arched palates and crowded teeth, but little has been said about other oral health complications. Other homocystinurias ( e.g. , the remethylation defects) also have had little reported in terms of oral health. Individuals with the homocystinurias have been described as having bone density issues which can correlate with oral health. Moreover, elevations in homocysteine have a theoretical impact on tooth health and the paucity of clinical reports of oral health issues in homocystinuria may be the consequence of lack of attention by the medical community...

Depending on how severe it is, malocclusion, which may involve misaligned teeth, jaws, or a combination of the two, can hurt a person's overall facial aesthetics. The maxillary molar develops before the mandibular molar in class II malocclusion, which affects 15% of the population in the United States. With a retrusive mandible, patients typically have a convex profile. The goal of this study is to classify the skeletal and dental variability present in class II malocclusion, to reduce heterogeneity, present the current clinical treatment strategies, to summarize the previously published findings of genetic analysis, discuss these findings and their constraints, and finally, propose a comprehensive roadmap to facilitate investigations aimed at determining the genetic bases of malocclusion development using a variety of genomic approaches...

<b/>The maxillofacial region has multiple functions such as breathing, language, and facial expressions. Children's maxillofacial development is a complex and long process, which is affected by many factors such as genetics, diseases, bad habits and trauma. Early detection, early diagnosis, and early treatment are important concepts in children's maxillofacial management. Digital technology medicine is an emerging technology based on medical imaging and anatomy that has emerged in recent years. The application of this technology in the field of clinical medicine will undoubtedly bring great benefits to children's maxillofacial management...

UNLABELLED: Hypodontia is an inherited condition involving the absence of one to six teeth. The permanent dentition is the most frequently affected; however, it may also affect the primary dentition. A congenitally missing tooth (CMT) is the most common dental abnormality, with the missing mandibular second premolar, maxillary lateral incisor, maxillary second premolar, and mandibular central incisor accounting for 90% of CMT in hypodontia studies. The etiology of CMT has been attributed to environmental and genetic contributing factors, with the latter having a strong influence...

UNLABELLED: Maxillary bone contraction is caused by genetics or ambiental factors and is often accompanied by dental crowding, with the possibility of canine inclusion, crossbite, class II and III malocclusion, temporomandibular joint disorder, and obstructive sleep apnea (OSAS). Transverse maxillary deficits, in which the maxillary growth is unusually modest, are frequently treated with maxillary expansion. The purpose of this study is to compare the dental and skeletal effects of different types of expanders, particularly the Leaf Expander, rapid and slow dental-anchored or skeletal-anchored maxillary expanders...

Fetal Alcohol Spectrum Disorder (FASD) arises from maternal consumption of alcohol during pregnancy affecting 2%-5% of the Western population. In Xenopus laevis studies, we showed that alcohol exposure during early gastrulation reduces retinoic acid (RA) levels at this critical embryonic stage inducing craniofacial malformations associated with Fetal Alcohol Syndrome. A genetic mouse model that induces a transient RA deficiency in the node during gastrulation is described. These mice recapitulate the phenotypes characteristic of prenatal alcohol exposure (PAE) suggesting a molecular etiology for the craniofacial malformations seen in children with FASD...

Pycnodysostosis is a skeletal dysplasia characterized by short stature, generalized osteosclerosis, acro-osteolysis, and recognizable facial features. Oral manifestations are commonly described and include a high-arched palate with dental crowding and malocclusion, hypoplastic enamel, and retained deciduous teeth with impacted permanent teeth, and there is an increased risk of developing osteomyelitis of the jaw. We report here the history of a 9-year-old male with the typical facial and skeletal phenotype of pycnodysostosis but novel oral features...

Aymé-Gripp syndrome is an autosomal dominant multisystem disorder. The major clinical features of this syndrome include congenital cataracts, sensorineural hearing loss, intellectual disability, and a distinctive flat facial appearance. MAF has been identified as a causative gene of the syndrome, and heterozygous variants owing to impairment in glycogen synthase kinase 3 (GSK3)-mediated MAF phosphorylation shows related disorders. However, the underlying mechanisms of these types of disorders in affected individuals remain poorly understood...

INTRODUCTION: Skeletal abnormalities and malocclusions have varied features that impact populations globally, impairing aesthetics and lowering life quality. The prevalence of the Skeletal Class III disease is the lowest among all angle malocclusions, with varied prevalence across nations. Environmental, genetic, and societal factors play a role in its numerous etiologies. In this study, we conducted a thorough search across the published data relating to quantitative trait loci (QTL) and the genes associated with Class III progression in humans, discussed these findings and their limitations, and proposed future directions and strategies for studying this phenotype...

BACKGROUND: Skeletal class III malocclusion has a diverse and complicated aetiology involving environmental and genetic factors. It is critical to correctly classify and define this malocclusion to be diagnosed and treated on a clinically sound basis. Thus, this study aimed to provide reliable and detailed measurements in a large ethnically homogeneous sample of Chinese adults to generate an adequate phenotypic clustering model to identify and describe the skeletal variation present in skeletal class III malocclusion...

The aetiology of impacted canines is multi-factorial. Several theories have been proposed, such as lack of space, genetic predisposition, physical barriers like supernumerary teeth, odontomas and other conditions that interfere with the eruption pathway. One of the main complications that can be generated by impacted canines is the resorption of the root of the adjacent teeth. This case report examines the importance of interdisciplinary management of maxillary incisors with root resorption caused by impacted canines in a 13-year-old male patient...

INTRODUCTION: Ring chromosome 14 syndrome, or r(14), is a rare genetic disorder characterized by distinctive facial features, intractable epilepsy, delayed development, intellectual disability, and autism spectrum disorder. With less than 100 documented cases worldwide, the disease is not well known or fully studied. Furthermore, the literature offers little guidance to aid dentists in the management of these patients as r(14) remains undocumented in the dental literature. AIM: To investigate the manifestations and challenges faced by a group of subjects suffering from r(14), to raise awareness of this syndrome, and to provide tips and suggestions that dentists may find helpful to manage r(14) children effectively...

OBJECTIVE: This study aimed to evaluate whether sex and genetic polymorphisms impact the oral health-related quality of life (OHRQoL) preoperatively and the difference between preoperative and postoperative OHRQoL in skeletal Class III patients submitted to orthognathic surgery. MATERIALS AND METHODS: This longitudinal study consisted of ninety-nine patients with skeletal Class III malocclusion who required orthognathic surgery. The Oral Health Impact Profile-14 (OHIP-14) is a questionnaire used to assess the OHRQoL with a 5-point Likert-type scale, covering seven domains related to physical and psychosocial factors...

Skeletal deformities and malocclusions being heterogeneous traits, affect populations worldwide, resulting in compromised esthetics and function and reduced quality of life. Skeletal Class III prevalence is the least common of all angle malocclusion classes, with a frequency of 7.2%, while Class II prevalence is approximately 27% on average, varying in different countries and between ethnic groups. Orthodontic malocclusions and skeletal deformities have multiple etiologies, often affected and underlined by environmental, genetic and social aspects...

BACKGROUND: Genetics, environment, and ethnic factors are major contributors to the prevalence and variations of malocclusion. AIM: The aim of study was to determine the prevalence of interarch problems in school-aged children, 9 - 11 years, living in Tehran; and to describe the role of ethnicity, education, and economic status on them. METHODS: The present data were part of the Comprehensive Evaluation of Skeleto-Dental Anomalies (CESDA) study conducted in 2015 among children living in Tehran, Iran...

INTRODUCTION: Primary Failure of Eruption (PFE) is a rare condition affecting posterior teeth eruption resulting in a posterior open bite malocclusion. Differential diagnosis like ankylosis or mechanical eruption failure should be considered. For non-syndromic forms, mutations in PTH1R , and recently in KMT2C genes are the known etiologies. The aim of this work was to describe the variability of clinical presentations of PFE associated with pathogenic variants of PTHR1 . MATERIAL AND METHODS: Diagnosis of non-syndromic PFE has been suggested for three members of a single family...

OBJECTIVES: To identify etiologic variants and perform deep dental phenotyping in patients with amelogenesis imperfecta (AI). METHODS: Three patients of two unrelated families were evaluated. Genetic variants were investigated by exome and Sanger sequencing. An unerupted permanent third molar (AI1) from Patient1 and a deciduous first molar (AI2) from Patient2, along with three tooth-type matched controls for each were characterized. RESULTS: All three patients harboured biallelic pathogenic variants in FAM20A, indicating AI1G...

INTRODUCTION: The morphology of the human face varies broadly, with genetic and environmental factors determining these variations. Examining variations in the 3-dimensional (3D) craniomandibular morphology and identifying related factors (eg, sex differences) are important in orthodontic clinics. This study observed shape variations in the 3D facial morphology of Japanese adults showing skeletal Class 1 malocclusion and examined the association of sexual dimorphism with shape variations...