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Malocclusion genetics

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https://www.readbyqxmd.com/read/28874636/growth-and-development-of-dentofacial-complex-influenced-by-genetic-and-environmental-factors-using-monozygotic-twins
#1
K K Manjusha, K Jyothindrakumar, A Nishad, K Madhav Manoj
AIM: The purpose of this study was to determine the possible effects of genetic and environmental factors on dentofacial complex using monozygotic twins. MATERIALS AND METHODS: The study sample was made of 21 pairs of monozygotic twins (14 female pairs and seven male pairs) between 10 and 25 years. Pretreatment lateral cephalo-grams were used which were traced and digitized, and various landmarks to determine the anteroposterior and vertical proportions were marked...
September 1, 2017: Journal of Contemporary Dental Practice
https://www.readbyqxmd.com/read/28838757/a-genetic-heritage-the-same-yet-different-a-comparative-study-in-twins
#2
Catherine Mas, Laure Frapier
Since the 19th century, and in every field of medicine, monozygotic twins have been studied to assess the involvement of genetic and environmental factors in phenotypic expression. The phenotype/genotype relationship remains the leading problem in contemporary biology. In dentofacial orthopedics, this relationship is of relevance in the three-dimensional approach to the face, in both diagnosis and treatment. The present study of two monozygotic twins presenting skeletal class III malocclusions which were genetic yet different is a clear illustration of the interaction of genotype and epigenetic factors with environmental influences...
August 21, 2017: International Orthodontics
https://www.readbyqxmd.com/read/28829932/amelogenesis-imperfecta-case-study
#3
C Leevailoj, S Lawanrattanakul, K Mahatumarat
Amelogenesis imperfecta (AI) refers to a group of rare genetic disorders that involve tooth development and that are passed down through families as a dominant trait. This condition is characterized by abnormal enamel formation caused by gene mutations that alter the quality and/or quantity of enamel. This dental problem can impact both primary and permanent dentition, varies among affected individuals, and results in esthetic and functional problems. This condition caused the patient in the current case report to have a lack of confidence when speaking...
September 2017: Operative Dentistry
https://www.readbyqxmd.com/read/28761278/unilateral-condylar-hyperplasia-a-genetic-link-case-reports
#4
Monika Mahajan
Unilateral condylar hyperplasia is an uncommon condition with unknown etiology which causes overdevelopment of condyle leading to facial asymmetry, mandibular deviation, malocclusion, and articulation dysfunction. Two Indian families with unilateral condylar hyperplasia are presented where the similar abnormality was also detected in one of their parents. The condylar hyperplasia in these two families indicates that mandibular condylar hyperplasia could be genetic in origin.
January 2017: National Journal of Maxillofacial Surgery
https://www.readbyqxmd.com/read/28702065/achondroplasia-with-multiple-supplemental-supernumerary-teeth-and-multiple-talon-cusps-a-rare-case-report
#5
Jayam Raviraj, Venkata Suman, Dirasantchu Suresh, K Kartik
Achondroplasia is the most common cause of dwarfism, which is inherited as an autosomal dominant disorder, caused by genetic mutation in fibroblast growth factor 3, leading to defective maturation of chondrocytes. It is known to be associated with various oral and dental manifestations such as delayed dental development, midfacial hypoplasia and constricted maxilla with a relatively large mandible, resulting in skeletal/dental Class III malocclusion, posterior crossbite, anterior reverse jet and anterior overbite...
May 2017: Dental Research Journal
https://www.readbyqxmd.com/read/28640125/targeted-sequencing-in-fgf-fgfr-genes-and-association-analysis-of-variants-for-mandibular-prognathism
#6
Xueyan Xiong, Shuyuan Li, Ying Cai, Fengshan Chen
To identify variants of the genes in fibroblast growth factors/fibroblast growth factor receptors (FGF/FGFR) signal pathway that predispose to mandibular prognathism (MP) in the general Chinese population systematically.Targeted sequencing of the FGF/FGFR genes was conducted in 176 MP individuals and 155 class I malocclusion controls. The associations of common and rare variants with MP as a categorical phenotype and also continuous malocclusion phenotypes generated by principal component (PC) analysis were analyzed...
June 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28570402/genetic-factors-involved-in-mandibular-prognathism
#7
Anna Doraczynska-Kowalik, Kamil H Nelke, Wojciech Pawlak, Maria M Sasiadek, Hanna Gerber
Mandibular prognathism is defined as an abnormal forward projection of the mandible beyond the standard relation to the cranial base and it is usually categorized as both a skeletal Class III pattern and Angle Class III malocclusion. The etiology of mandibular prognathism is still uncertain, with various genetic, epigenetic, and environmental factors possibly involved. However, many reports on its coexistence in both twins and segregation in families suggest the importance of genetic influences. A multifactorial and polygenic background with a threshold for expression or an autosomal dominant mode with incomplete penetrance and variable expressivity are the most probable inheritance patterns...
May 31, 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/28538070/one-stage-treatment-for-adult-patients-with-crouzonoid-appearance-by-orthognathic-and-face-contouring-surgery
#8
Byung Jun Kim, Hahn Sol Bae, Yoonho Lee
Crouzon syndrome is a rare genetic disorder with autosomal-dominant inheritance that shows a triad of hallmark characteristics: craniosynostosis, exophthalmos, and midface retrusion. General treatment protocol for patients with Crouzon syndrome has already been established, but there is no standard treatment strategy for adult patients with Crouzonoid appearance. The authors present clinical patients of 1-stage orthognathic and face contouring surgery to achieve functional and aesthetic improvement.One-stage surgery was performed in adult patients with Crouzonoid appearance without a history of facial surgery...
May 19, 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/28538061/clinical-experience-of-treatment-of-facial-malformations-in-oto-palato-digital-syndrome-a-familial-patient
#9
Tomoe Kira-Koizumi, Nobuyuki Mitsukawa, Tadashi Morishita, Shinsuke Akita, Yoshitaka Kubota, Kaneshige Satoh
Oto-palato-digital syndrome type 1 (OPD1) is an X-linked recessive disorder comprising characteristic facial appearances and skeletal alterations. The authors report OPD1 in a mother and her 2 sons who had multiple common congenital anomalies. Both of the brothers were born with mild hearing impairment, frontal bossing with prominent supraorbital ridges, downslanting palpebral fissures, dental malocclusion, and palatal clefts. They underwent a series of aesthetic surgeries for their facial malformations with good cosmetic results...
June 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/28461877/thalassemia-review-features-dental-considerations-and-management
#10
REVIEW
Nawal Helmi, Mawahib Bashir, Ayesha Shireen, Iffat Mirza Ahmed
Thalassemia is a genetic disorder that involves abnormal haemoglobin formation. The two main categories of thalassemia are alpha and beta thalassemia that are then divided into further subcategories. While some mild forms of thalassemia might even go unnoticed and only cause mild anaemia and iron deficiency problems in patients, other more severe forms of thalassemia can even result in death. Individuals with thalassemia can get treatment according to the level of severity of their condition. The main oral manifestations of thalassemia are Class II malocclusion, maxillary protrusion, high caries index, severe gingivitis...
March 2017: Electronic Physician
https://www.readbyqxmd.com/read/28381371/condylar-geometry-variation-is-associated-with-enpp1-variant-in-a-population-of-patients-with-dento-facial-deformities
#11
Marion Constant, Romain Nicot, Alexandre R Vieira, Gwenael Raoul, James J Sciote, Joel Ferri
PURPOSE: Bone remodeling is essential in maintaining bone health. Considering that ENPP1 contributes to bone geometry and bone mineralization, the aim of our study was to analyze the association between single-nucleotide polymorphisms (SNPs) of ENPP1 and condylar remodeling. MATERIALS AND METHODS: A total of 156 patients undergoing orthodontic and maxillofacial surgery treatment for correction of malocclusion were included in this prospective study. Saliva samples from all subjects were used for DNA extraction and genotyping...
June 2017: Journal of Cranio-maxillo-facial Surgery
https://www.readbyqxmd.com/read/28364893/genetic-polymorphisms-underlying-the-skeletal-class-iii-phenotype
#12
Christiane Vasconcellos Cruz, Claudia Trindade Mattos, José Calasans Maia, José Mauro Granjeiro, Maria Fernanda Reis, José Nelson Mucha, Beatriz Vilella, Antonio Carlos Ruellas, Ronir Raggio Luiz, Marcelo Castro Costa, Alexandre Rezende Vieira
INTRODUCTION: Our goal was to verify the association between candidate polymorphisms and skeletal Class III malocclusion in a well-characterized homogeneous sample set. METHODS: Thirty-five single-nucleotide polymorphisms were studied from 10 candidate loci in 54 Class III subjects and 120 controls. Skeletal Class III characteristics included ANB angle less than 0°, SNB angle greater than 83° (mandibular prognathism), SNA angle less than 79° (maxillary deficiency), Class III molar relationship, and negative overjet...
April 2017: American Journal of Orthodontics and Dentofacial Orthopedics
https://www.readbyqxmd.com/read/28330575/clinical-management-of-the-homozygous-%C3%AE-thalassemia-with-unusual-mandibular-manifestation-of-hematopoiesis
#13
J A Ruiz-Roca, R E Oñate-Sánchez, I Urrutia-Rodríguez, A Martínez-Izquierdo, D Mengual-Pujante, F J Rodríguez-Lozano
Alpha (α)-thalassemias are the most common genetic disorder of hemoglobin (Hb) synthesis, affecting up to 5% of the world's population. These congenital hemolytic anemias induce extramedullary hematopoiesis, including the liver, spleen, sinuses, and the diploic spaces of the skull. Oral health problems in patients with thalassemias are mostly related to a varied degree of facial deformities, malocclusions, and/or dental arch dimensions. We present a case with a 49-year-old man, diagnosed with homozygous α thalassemia that came to the Faculty of Dentistry at the University of Murcia for a dental treatment...
February 2017: Journal of Stomatology, Oral and Maxillofacial Surgery
https://www.readbyqxmd.com/read/28316926/apert-syndrome-with-s252w-fgfr2-mutation-and-characterization-using-phenomizer-an-indian-case-report
#14
Fulesh Kunwar, Shikha Tewari, Sonal R Bakshi
Human genetic disease needs differential diagnosis to optimize clinical management, enable prenatal detection, and genetic counselling. The current methods of robust DNA sequencing also require next generation phenotyping to match with for better interpretation of genotypic and phenotypic heterogeneity commonly observed. We report use of human ontology based phenotypic characterization with Phenomizer that gives statistical score for possible diagnoses based on which, the gene mutation was studied. A case of craniosynostosis which refers to a group of syndromes characterized by a premature fusion of skull was studied...
January 2017: Journal of Oral Biology and Craniofacial Research
https://www.readbyqxmd.com/read/28257739/candidate-gene-analyses-of-3-dimensional-dentoalveolar-phenotypes-in-subjects-with-malocclusion
#15
Cole A Weaver, Steven F Miller, Clarissa S G da Fontoura, George L Wehby, Brad A Amendt, Nathan E Holton, Veeratrishul Allareddy, Thomas E Southard, Lina M Moreno Uribe
INTRODUCTION: Genetic studies of malocclusion etiology have identified 4 deleterious mutations in genes DUSP6,ARHGAP21, FGF23, and ADAMTS1 in familial Class III cases. Although these variants may have large impacts on Class III phenotypic expression, their low frequency (<1%) makes them unlikely to explain most malocclusions. Thus, much of the genetic variation underlying the dentofacial phenotypic variation associated with malocclusion remains unknown. In this study, we evaluated associations between common genetic variations in craniofacial candidate genes and 3-dimensional dentoalveolar phenotypes in patients with malocclusion...
March 2017: American Journal of Orthodontics and Dentofacial Orthopedics
https://www.readbyqxmd.com/read/28257225/dental-space-deficiency-syndrome-an-anthropological-perspective
#16
Colin S Richman
A new syndrome in dentistry, the dental space deficiency syndrome is proposed in this article. Signs and symptoms of this entity may include one or more of the following clinical dental features: tooth crowding, gingival recession, tooth impactions, rapid resorption of facial alveolar bony plates following premature tooth loss, dentally oriented sleep disorders, extended orthodontic treatment time, and malocclusion relapse following orthodontic therapy. These oral conditions, individually or collectively, seem to be associated with both genetic and functional factors...
March 2017: Compendium of Continuing Education in Dentistry
https://www.readbyqxmd.com/read/28251806/implications-of-vertebrate-craniodental-evo-devo-for-human-oral-health
#17
REVIEW
Julia C Boughner
Highly processed diets eaten by postindustrial modern human populations coincide with higher frequencies of third molar impaction, malocclusion, and temporomandibular joint disorders that affect millions of people worldwide each year. Current treatments address symptoms, not causes, because the multifactorial etiologies of these three concerns mask which factors incline certain people to malocclusion, impaction, and/or joint issues. Deep scientific curiosity about the origins of jaws and dentitions continues to yield rich insights about the developmental genetic mechanisms that underpin healthy craniodental morphogenesis and integration...
March 2, 2017: Journal of Experimental Zoology. Part B, Molecular and Developmental Evolution
https://www.readbyqxmd.com/read/27938658/-etiology-and-treatment-options-of-anterior-open-bite-in-growing-patients-a-narrative-review
#18
REVIEW
Alberto Caprioglio, Rosamaria Fastuca
INTRODUCTION: Anterior open bite represents a malocclusion that is still under study because of the still lacking evidence about etiology and best treatment options in growing subjects according to success rate and stability. Etiology involves the interaction of environmental factors such as prolonged sucking habits, mouth breathing, tongue or lip thrusting, tongue dimension, eruption disturbances with a genetically determined vertical facial growth pattern. The treatment options for the early treatment of anterior open bite are still controversial...
December 2016: L' Orthodontie Française
https://www.readbyqxmd.com/read/27895973/review-of-the-genetic-basis-of-jaw-malformations
#19
REVIEW
Mairaj K Ahmed, Xiaoqian Ye, Peter J Taub
Genetic etiologies for congenital anomalies of the facial skeleton, namely, the maxilla and mandible, are important to understand and recognize. Malocclusions occur when there exist any significant deviation from what is considered a normal relationship between the upper jaw (maxilla) and the lower jaw (mandible). They may be the result of anomalies of the teeth alone, the bones alone, or both. A number of genes play a role in the facial skeletal development and are regulated by a host of additional regulatory molecules...
December 2016: Journal of Pediatric Genetics
https://www.readbyqxmd.com/read/27821165/classification-and-characterization-of-class-iii-malocclusion-in-chinese-individuals
#20
COMPARATIVE STUDY
Cai Li, Ying Cai, Sihui Chen, Fengshan Chen
BACKGROUND: Class III malocclusion is a maxillofacial disorder that is characterised by a concave profile and can be attributed to both genetic inheritance and environmental factors. It is a clinical challenge due to our limited understanding of its aetiology. Revealing its prototypical diversity will contribute to our sequential exploration of the underlying aetiological information. The objective of this study was to characterize phenotypic variations of Class III malocclusion via a lateral cephalometric analysis in a community of Chinese individuals...
November 7, 2016: Head & Face Medicine
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