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Malocclusion genetics

Farhin Ali Katge, Bhavesh Dahyabhai Rusawat, Pooja Ravindra Shivasharan, Devendra Pandurang Patil
Langer-Giedion syndrome is a very uncommon autosomal dominant genetic disorder caused by the deletion of chromosomal material. It is characterized by multiple bony exostosis, short stature, mental retardation, and typical facial features. The characteristic appearance of individuals includes sparse scalp hair, rounded nose, prominent philtral area and thin upper lip. Some cases with this condition have loose skin in childhood which typically resolves with age. Oral and dental manifestations include micrognathia, retrognathia, hypodontia, and malocclusion based on cephalometric analysis...
September 2016: Journal of Dentistry
E Dursun, E Savard, C Vargas, L Loison-Robert, H Cherifi, F Bdeoui, M-M Landru
OBJECTIVE: Amelogenesis imperfecta (AI) is a heterogenous genetic disorder that interferes with normal enamel formation in the absence of systemic disorders. The patients' main concerns are caries susceptibility, poor esthetics, and generalized sensitivity. There is a broad clinical spectrum, from discolorations to consequent enamel alterations. This case report describes the 15-year case study and the full-mouth rehabilitation of two siblings affected by a hypocalcified AI. Clinical Considerations: In these two patients, conservative care with stainless steel crowns and direct composite restorations was undertaken to restore function and esthetics and to reduce sensitivities in primary and mixed dentitions...
September 2, 2016: Operative Dentistry
Romain Nicot, Alexandre R Vieira, Gwénaël Raoul, Constance Delmotte, Alain Duhamel, Joël Ferri, James J Sciote
UNLABELLED: Dentofacial deformities are dys-morpho-functional disorders involving the temporomandibular joints (TMJ). Many authors have reported a TMJ improvement in dysfunctional subjects with malocclusion after orthodontic or combined orthodontic and surgical treatment particularly for the relief of pain. In particular, few studies have highlighted the demographic and clinical predictors of response to surgical treatment. To date, no genetic factor has yet been identified as a predictor of response to surgical treatment...
September 2016: Journal of Cranio-maxillo-facial Surgery
Fares Samra, Andrew R Bauder, Jordan W Swanson, Linton A Whitaker, Scott P Bartlett, Jesse A Taylor
BACKGROUND: Max Muenke included midface hypoplasia as part of the clinical syndrome caused by the Pro250Arg FGFR3 mutation that now bears his name. Murine models have demonstrated midface hypoplasia in homozygous recessive mice only, with heterozygotes having normal midfaces; as the majority of humans with the syndrome are heterozygotes, we investigated the incidence of midface hypoplasia in our institution's clinical cohort. METHODS: We retrospectively reviewed all patients with a genetic and clinical diagnosis of Muenke syndrome from 1990 to 2014...
September 2016: Journal of Plastic, Reconstructive & Aesthetic Surgery: JPRAS
Jillian Casey, Allan Jenkinson, Alex Magee, Sean Ennis, Ahmad Monavari, Andrew Green, Sally A Lynch, Ellen Crushell, Joanne Hughes
We report a female child from an Irish Traveller family presenting with severe intellectual disability, dysmorphic features, renal anomalies, dental caries and cyclical vomiting. Current health issues include global developmental delay, mild concentric left ventricular hypertrophy, dental malocclusion and caries and a single duplex left kidney. The proband and her mother also have multiple epiphyseal dysplasia. Whole-exome sequencing was performed to identify the underlying genetic cause. DNA from the proband was enriched with the Agilent Sure Select v5 Exon array and sequenced on an Illumina HiSeq...
October 2016: Clinical Dysmorphology
Jaime Toral-López, Luz M González-Huerta, Olga Messina Baas, Sergio A Cuevas-Covarrubias
Craniofrontonasal syndrome (CFNS) is a rare genetic entity with X-linked dominant inheritance. CFNS is due to mutations in the Ephrin-B1 (EFNB1) gene. It is characterized by brachycephaly, frontonasal dysplasia, palate/lip defects, dental malocclusion, short neck, split nails, syndactyly, toe and finger defects, and minor skeletal defects. Intelligence is usually unaffected. CFNS exhibits unexpected manifestations between males and females as the latter are more affected. Cellular or metabolic interference due to X inactivation explains the more severe phenotype in heterozygous females...
April 2016: Molecular Syndromology
Fulesh Kunwar, Vidhi Pandya, Sonal R Bakshi
The heterogeneous phenotype of known syndromes is a clinical challenge, and harmonized description using globally accepted ontology is desirable. This report attempts phenotypic analysis in a patient of constitutional mosaic trisomy 13 in mesoderm and ectoderm to make globally comparable clinical description. Phenotypic features (minor/major abnormalities) were recorded and matched with the Human Phenotype Ontology terms that were used to query web-based tool Phenomizer. We report here a case of 24-year-old girl born to non consanguineous parents with history of one abortion...
March 2016: Journal of Clinical and Diagnostic Research: JCDR
Chiara Leoni, Christopher T Gordon, Giacomo Della Marca, Valentina Giorgio, Roberta Onesimo, Francesca Perrino, Alessandro Cianfoni, Antonella Cerchiari, Jeanne Amiel, Giuseppe Zampino
Auriculo-Condylar Syndrome (ACS) is a craniofacial malformation syndrome characterized by external ear anomalies, hypoplasia of the mandibular condyle, temporomandibular joint abnormalities, micrognathia, and microstomia. Glossoptosis, masticatory abnormalities, orthodontic problems, and malocclusion occur in a majority of affected subjects. The clinical diagnosis is usually suggested by the pathognomonic ear appearance ("question mark ear"), consisting of a variable degree of clefting between the helix and earlobe...
June 2016: American Journal of Medical Genetics. Part A
Snigdha Pattanaik, Sumita Mishra
Class III malocclusion is one of the most difficult problems to treat in the mixed dentition. It has a multifactorial etiology involving both genetic and environmental causes. The dental and skeletal effects of maxillary protraction with a facemask are well documented in several studies. Although treatment in the late mixed or early permanent dentition can be successful, results are generally better in the deciduous or early mixed dentition. The following case shows early treatment of a young patient with severe sagittal and transverse discrepancy of the maxilla and mandible, using a facemask...
2016: Case Reports in Dentistry
Tomasz Jacek Zwierzchowski, Agnieszka Przedborska, Izabela Wilmańska, Jan W Raczkowski
INTRODUCTION: Rubinstein-Taybi syndrome is a rare genetic multisystem disorder comprising motor organ dysfunction, craniofacial dysmorphism and psychomotor retardation, frequently with the abnormalities of the thyroid gland. OBJECTIVE: Presentation of a case of a 19-year-old patient with Rubinstein-Taybi syndrome in whom serum TSH, fT3 and fT4 levels were assessed. CASE: Craniofacial abnormalities including: microcephaly, underdeveloped maxilla, micrognathia, high arched palate, malocclusion, down-slanting palpebral fissures, thick eyelashes and full eyebrows...
2015: Neuro Endocrinology Letters
M AlSarheed
BACKGROUND: Trisomy 21 (T21) is a genetic disorder stemming from a chromosomal abnormality and characterized by general and mental retardation. Depending on the population, T21 is known to affect 1 in every 600-2000 live births. The current literature provides a mixed view on the oral health status of T21 individuals. AIM: To establish the prevalence of dental caries, malocclusion, and trauma amongst children with T21 compared with non-T21 children in Riyadh, Saudi Arabia...
October 2015: Saudi Dental Journal
Alessandra Majorana, Elena Bardellini, Francesca Amadori, Giulio Conti, Antonella Polimeni
As most of the etiologic factors of malocclusion are of genetic origin and thus cannot be prevented, environmental causative factors have become the focus for correction. Early interception of oral habits may be an important step in order to prevent occlusal disturbances in children. The identification of an abnormal habit and the assessment of its potential immediate and long-term effects on the dentition and potentially on the craniofacial complex should be made at an early stage. This paper focuses on the most common oral habits influencing dentofacial growth in childhood and management of these habits in the developing dentition...
2015: Progress in Orthodontics
Brett J Bezak, Kevin A Arce, Adam Jacob, James Van Ess
PURPOSE: This case series examined preoperative findings and the surgical, anesthetic, and postoperative management of 6 patients with congenital myopathies (CMs) and congenital muscular dystrophies (CMDs) treated at a tertiary medical institution with orthognathic surgery over 15 years to describe pertinent considerations for performing orthognathic surgery in these complex patients. MATERIALS AND METHODS: According to the institutional review board-approved protocol, chart records were reviewed for all orthognathic surgical patients with a clinical, genetic, or muscle biopsy-proved diagnosis of CM or CMD...
March 2016: Journal of Oral and Maxillofacial Surgery
X Guan, Y Song, J Ott, Y Zhang, C Li, T Xin, Z Li, Y Gan, J Li, S Zhou, Y Zhou
Mandibular prognathism is a facial skeletal malocclusion. Until now, the genetic mechanism has been unclear. The goal of this study was to identify candidate genes or genomic regions directly associated with mandibular prognathism development, by employing whole genome sequencing. A large Chinese family was recruited, composed of 9 affected and 12 unaffected individuals, and the inheritance pattern of this family tends to be autosomal dominant. A single-nucleotide missense mutation in the ADAMTS1 gene (c. 742I>T) was found to segregate in the family, given that the affected individuals must be heterozygous for the mutation...
September 2015: Journal of Dental Research
Bento Sousa de Souza, Livia Monteiro Bichara, João Farias Guerreiro, Cátia Cardoso Abdo Quintão, David Normando
BACKGROUND: Indigenous people of the Xingu river present a similar tooth wear pattern, practise exclusive breast-feeding, no pacifier use, and have a large intertribal genetic distance. OBJECTIVE: To revisit the etiology of dental malocclusion features considering these population characteristics. DESIGN: Occlusion and facial features of five semi-isolated Amazon indigenous populations (n=351) were evaluated and compared to previously published data from urban Amazon people...
September 2015: Archives of Oral Biology
Joseph P Gyekis, Dean H Lang, David J Vandenbergh, Glenn S Gerhard, James W Griffith, Jeffery W Dodds, Zakaria K Shihabi, Mera K Tilley, David A Blizard
BACKGROUND AND AIM: Mortality is a highly complex trait influenced by a wide array of genetic factors. METHODS: We examined a population of 1200 mice that were F2 generation offspring of a 4-way reciprocal cross between C57BL6/J and DBA2/J strains. Animals were sacrificed at age 200, 500, or 800 days and genotyped at 96 markers. The 800 days old cohort, which were the survivors of a much larger breeding group, were examined for enriched frequency of alleles that benefit survival and depletion of alleles that reduce survival...
February 2016: Aging Clinical and Experimental Research
P David Polly
Our understanding of the evolution of the dentition has been transformed by advances in the developmental biology, genetics, and functional morphology of teeth, as well as the methods available for studying tooth form and function. The hierarchical complexity of dental developmental genetics combined with dynamic effects of cells and tissues during development allow for substantial, rapid, and potentially non-linear evolutionary changes. Studies of selection on tooth function in the wild and evolutionary functional comparisons both suggest that tooth function and adaptation to diets are the most important factors guiding the evolution of teeth, yet selection against random changes that produce malocclusions (selectional drift) may be an equally important factor in groups with tribosphenic dentitions...
May 2015: Odontology
Kíldane Maria Almeida Guedes, Alzira Maria D'Avila Nery Guimarães, Alliny de Souza Bastos, Karoline Guedes Mesquita Salviano, Neuza Josina Sales, Maria Luiza Dória Almeida, Ricardo Queiroz Gurgel
BACKGROUND: The high frequency of alterations of the stomatognathic system associated with premature birth may suggest that prematurity is an important risk factor in the development of this system. Prematurity has an incidence between 6-11% of births and is associated with factors such as genetic, maternal conditions (obstetric problems, nutritional status, infections) and antenatal care. In addition, undesirable situations, such as changes in enamel and the development of the skeletal structure, also appears to be associated with prematurity...
2015: BMC Pediatrics
L M Moreno Uribe, S F Miller
Malocclusions affect individuals worldwide, resulting in compromised function and esthetics. Understanding the etiological factors contributing to the variation in dentofacial morphology associated with malocclusions is the key to develop novel treatment approaches. Advances in dentofacial phenotyping, which is the comprehensive characterization of hard and soft tissue variation in the craniofacial complex, together with the acquisition of large-scale genomic data have started to unravel genetic mechanisms underlying facial variation...
April 2015: Orthodontics & Craniofacial Research
L R Iwasaki, D A Covell, S A Frazier-Bowers, S Kapila, S S Huja, J C Nickel
OBJECTIVE: To bring together orthodontic stakeholders from academics, industry, and private practice for a series of thematically focused workshops to explore and develop the transfer of novel approaches into clinical orthodontic practice. SETTING AND SAMPLE POPULATION: Twenty-seven invited speakers, eight poster presenters, and participants of the Consortium for Orthodontic Advances in Science and Technology (COAST) 2014 Innovators' Workshop at the Eaglewood Resort and Spa, Itasca, Illinois, September 11-14, 2014...
April 2015: Orthodontics & Craniofacial Research
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