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Malocclusion genetics

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https://www.readbyqxmd.com/read/29739092/satb2-associated-syndrome-a-case-report-of-a-de-novo-nonsense-mutation-in-satb2-from-china-and-review-of-literature
#1
Hong-Yan Lv, Rui-Jiang Zheng, Qiu-Li Wang, Peng-Shun Ren, Lin-Hong Jin, Xiu-Ling Gu, Lian-Xiang Li
BACKGROUND: To study the clinical and genetic features from a Chinese child with SATB2-associated syndrome (SAS) and review of literature. METHODS: The girl, 2 years 3 months old, is admitted to the Department of Pediatric Rehabilitation in our hospital. This patient has mental retardation, language development disorder, cleft palate II0, micrognathia, malocclusion, irritability and bilateral oblique palpebral fissure as a clinical manifestation and is treated for 3 months...
April 1, 2018: Clinical Laboratory
https://www.readbyqxmd.com/read/29725259/expanding-the-oro-dental-and-mutational-spectra-of-kabuki-syndrome-and-expression-of-kmt2d-and-kdm6a-in-human-tooth-germs
#2
Thantrira Porntaveetus, Mushriq F Abid, Thanakorn Theerapanon, Chalurmpon Srichomthong, Atsushi Ohazama, Katsushige Kawasaki, Maiko Kawasaki, Kanya Suphapeetiporn, Paul T Sharpe, Vorasuk Shotelersuk
Kabuki syndrome is a rare genetic disorder characterized by distinct dysmorphic facial features, intellectual disability, and multiple developmental abnormalities. Despite more than 350 documented cases, the oro-dental spectrum associated with kabuki syndrome and expression of KMT2D (histone-lysine N-methyltransferase 2D) or KDM6A (lysine-specific demethylase 6A) genes in tooth development have not been well defined. Here, we report seven unrelated Thai patients with Kabuki syndrome having congenital absence of teeth, malocclusion, high-arched palate, micrognathia, and deviated tooth shape and size...
2018: International Journal of Biological Sciences
https://www.readbyqxmd.com/read/29655410/non-orthodontic-intervention-and-non-nutritive-sucking-behaviours-a-literature-review
#3
REVIEW
Liyana Tanny, Boyen Huang, Noel Ye Naung, Geoffrey Currie
Anterior open bite (AOB) is one of the most complex malocclusions to manage. AOB is caused by either by skeletal, genetic or environmental factors. Numerous treatment options are currently utilised to manage AOB. These vary from non-invasive behavioural shaping to orthodontic and surgical interventions. This paper reviews the available orthodontic and non-orthodontic interventions used in the management of AOB. The literature review was carried out using the PubMed search engine from the first of January 2000 to the first of June 2017...
April 2018: Kaohsiung Journal of Medical Sciences
https://www.readbyqxmd.com/read/29364376/-maxillary-lateral-incisor-partial-anodontia-sequence-a-clinical-entity-with-epigenetic-origin
#4
Alberto Consolaro, Maurício Almeida Cardoso, Renata Bianco Consolaro
The relationship between maxillary lateral incisor anodontia and the palatal displacement of unerupted maxillary canines cannot be considered as a multiple tooth abnormality with defined genetic etiology in order to be regarded as a "syndrome". Neither were the involved genes identified and located in the human genome, nor was it presumed on which chromosome the responsible gene would be located. The palatal maxillary canine displacement in cases of partial anodontia of the maxillary lateral incisor is potentially associated with environmental changes caused by its absence in its place of formation and eruption, which would characterize an epigenetic etiology...
November 2017: Dental Press Journal of Orthodontics
https://www.readbyqxmd.com/read/29358133/third-molar-agenesis-as-a-potential-marker-for-craniofacial-deformities
#5
Clarissa Christina Avelar Fernandez, Christiane Vasconcellos Cruz Alves Pereira, Ronir Raggio Luiz, Italo M Faraco, Mary L Marazita, Maria Arnaudo, Flavia M de Carvalho, Fernando E Poletta, Juan C Mereb, Eduardo E Castilla, Iêda M Orioli, Marcelo de Castro Costa, Alexandre Rezende Vieira
The identification of clinical patterns of tooth agenesis in individuals born with craniofacial deformities may be a useful tool for risk determination of these defects. We hypothesize that specific craniofacial deformities are associated with third molar agenesis. OBJECTIVE: The aim of this study was to identify if third molar agenesis could have a relation with other craniofacial structure alterations, such as cleft lip and palate, skeletal malocclusion, or specific growth patterns in humans...
April 2018: Archives of Oral Biology
https://www.readbyqxmd.com/read/29290679/heredity-genetics-and-orthodontics-how-much-has-this-research-really-helped
#6
James K Hartsfield, George Jeryn Jacob, Lorri Ann Morford
Uncovering the genetic factors that correlate with a clinical deviation of previously unknown etiology helps to diminish the unknown variation influencing the phenotype. Clinical studies, particularly those that consider the effects of an appliance or treatment regimen on growth, need to be a part of these types of genetic investigations in the future. While the day-to-day utilization of "testing" for genetic factors is not ready for practice yet, genetic testing for monogenic traits such as Primary Failure of Eruption (PFE) and Class III malocclusion is showing more promise as knowledge and technology advances...
December 2017: Seminars in Orthodontics
https://www.readbyqxmd.com/read/29156093/functional-and-molecular-outcomes-of-the-human-masticatory-muscles
#7
REVIEW
G Isola, G P Anastasi, G Matarese, R C Williams, G Cutroneo, P Bracco, M G Piancino
The masticatory muscles achieve a broad range of different activities such as chewing, sucking, swallowing, and speech. In order to accomplish these duties, masticatory muscles have a unique and heterogeneous structure and fiber composition, enabling them to produce their strength and contraction speed largely dependent on their motor units and myosin proteins that can change in response to genetic and environmental factors. Human masticatory muscles express unique myosin isoforms, including a combination of thick fibers, expressing myosin light chains (MyLC) and myosin class I and II heavy chains (MyHC) -IIA, -IIX, α-cardiac, embryonic and neonatal and thin fibers, respectively...
November 20, 2017: Oral Diseases
https://www.readbyqxmd.com/read/28874636/growth-and-development-of-dentofacial-complex-influenced-by-genetic-and-environmental-factors-using-monozygotic-twins
#8
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
#9
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
#10
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
#11
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
#12
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
#13
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
#14
REVIEW
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...
July 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
#15
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...
July 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
#16
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
#17
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
#18
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
#19
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
#20
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
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