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https://www.readbyqxmd.com/read/28209013/identifying-aarskog-syndrome
#1
Anis Ahmed, Abdullah Mufeed, Ashir Kolikkal Ramachamparambathu, Umer Hasoon
Aarskog syndrome also known as Aarskog-Scott Syndrome, Facio-digito-genital Syndrome or Faciogenital Dysplasia is a rare, X-linked disorder predominantly affecting males, characterized by facial, skeletal and genital anomalies. This is a case report of a 15-year-old male patient who visited our college complaining of poor facial aesthetics. History revealed consanguinity and his sibling to be suffering from the same. A diagnosis of Aarskog syndrome was made based upon the detailed patient history, thorough clinical evaluation and identification of characteristic findings in radiographs...
December 2016: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/28203028/-unerupted-first-deciduous-molar-located-higher-to-the-first-premolar-a-case-report
#2
Y Zhan, H Liu
Tooth eruption is defined as the movement of a tooth from its site of development within the alveolar process to its functional position in the oral cavity. The process of tooth eruption can be divided into different phases: pre-eruptive bone stage, alveolar bone stage, mucosal stage, preocclusal stage, occlusal stage and maturation stage. Any disturbance in these phases can lead to eruptive anomalies. The incidence of unerupted teeth is usually higher among permanent teeth than among deciduous ones. Of the primary teeth reported as unerupted, second deciduous molars are the teeth most frequently involved, followed by primary central incisors...
February 18, 2017: Beijing da Xue Xue Bao. Yi Xue Ban, Journal of Peking University. Health Sciences
https://www.readbyqxmd.com/read/28174368/the-prevalence-of-major-types-of-occlusal-anomalies-among-saudi-middle-school-students
#3
Hosam Baeshen
INTRODUCTION: Malocclusion is the most common dental anomaly among children and adolescents. Accordingly, this study was conducted to investigate the prevalence of major types of occlusal anomalies in permanent dentition among Saudi Arabian middle school adolescent students seeking orthodontic treatment in Jeddah. MATERIALS AND METHODS: The sample comprised 150 males and 150 females with mean age of 14.25 (±1.09) for both males and females. Data were registered using the Bjork method...
February 1, 2017: Journal of Contemporary Dental Practice
https://www.readbyqxmd.com/read/28151491/clinical-and-molecular-consequences-of-disease-associated-de-novo-mutations-in-satb2
#4
Hemant Bengani, Mark Handley, Mohsan Alvi, Rita Ibitoye, Melissa Lees, Sally Ann Lynch, Wayne Lam, Madeleine Fannemel, Ann Nordgren, H Malmgren, M Kvarnung, Sarju Mehta, Shane McKee, Margo Whiteford, Fiona Stewart, Fiona Connell, Jill Clayton-Smith, Sahar Mansour, Shehla Mohammed, Alan Fryer, Jenny Morton, Detelina Grozeva, Tara Asam, David Moore, Alejandro Sifrim, Jeremy McRae, Matthew E Hurles, Helen V Firth, F Lucy Raymond, Usha Kini, Christoffer Nellåker, Ddd Study, David R FitzPatrick
PURPOSE: To characterize features associated with de novo mutations affecting SATB2 function in individuals ascertained on the basis of intellectual disability. METHODS: Twenty previously unreported individuals with 19 different SATB2 mutations (11 loss-of-function and 8 missense variants) were studied. Fibroblasts were used to measure mutant protein production. Subcellular localization and mobility of wild-type and mutant SATB2 were assessed using fluorescently tagged protein...
February 2, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28140477/coexistence-of-fusion-and-concrescence-of-primary-teeth-in-a-child-with-down-syndrome
#5
Akshara Singh, Hind Pal Bhatia, Naresh Sharma
Down syndrome is one of the most common congenital anomaly. It is most frequently caused by trisomy of chromosome 21. Other causes can be mosaicism and translocation. Such patients are commonly encountered in routine dental practice. This syndrome has wide range of medical and dental abnormalities. This paper presents a unique case of fusion and concrescence of retained primary teeth in a child with Down syndrome. The incidence of such anomalies is quite low in these cases. Thus, a better awareness of such conditions on part of a dental practitioner will aid in the provision of enhanced dental care to these patients...
January 31, 2017: Special Care in Dentistry
https://www.readbyqxmd.com/read/28139846/genotype-and-phenotype-in-12-additional-individuals-with-satb2-associated-syndrome
#6
Yuri A Zarate, Louisa Kalsner, Alice Basinger, Julie R Jones, Chumei Li, Marta Szybowska, Zhuo Luan Xu, Samantha Vergano, Aisling R Caffrey, Cruz Velasco Gonzalez, Holly Dubbs, Elaine Zackai, Francisca Millan, Aida Telegrafi, Berivan Baskin, Richard Person, Jennifer L Fish, David B Everman
SATB2-associated syndrome (SAS) is a multisystemic disorder caused by alterations of the SATB2 gene. We describe the phenotype and genotype of twelve individuals with 10 unique (de novo in 11 of 11 tested) pathogenic variants (1 splice site, 5 frameshift, 3 nonsense, 2 missense) in SATB2 and review all cases reported in the published literature caused by point alterations thus far. In the cohort here described, developmental delay with severe speech compromise, facial dysmorphism, and dental anomalies were present in all cases...
January 31, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28139484/prevalence-of-dental-anomalies-in-deciduous-dentition-and-its-association-with-succedaneous-dentition-a-cross-sectional-study-of-4180-south-indian-children
#7
G Shilpa, Niraj Gokhale, Sreekanth Kumar Mallineni, Sivakumar Nuvvula
OBJECTIVE: The objective of this study was to estimate the prevalence of dental anomalies in primary dentition of Indian population. MATERIALS AND METHODS: This cross-sectional study was conducted on 4180 children in the age of 2-6 years. Anomalies were classified based on Kreiborg criteria. The term "double tooth" was used to avoid misinterpretation between gemination. and fusion. Patients having radiographs were also examined for associated dental anomalies in permanent dentition...
January 2017: Journal of the Indian Society of Pedodontics and Preventive Dentistry
https://www.readbyqxmd.com/read/28139483/patterns-of-incisor-premolar-agenesis-combinations-a-retrospective-study
#8
Levent Demiriz, Ebru Hazar Bodrumlu, Furuzan Kokturk
BACKGROUND: Tooth agenesis is the most common dental anomaly which causes serious problems in humans. Many theories were asserted to explain the main etiologic factor of this anomaly, and genetic factors were considered as primary reasons. AIMS: The aim of the present study was to evaluate the relationship between incisor and premolar tooth agenesis and to reveal a considerable data about combinations of incisor-premolar agenesis and their frequency. SETTINGS AND DESIGN: According to inclusion and exclusion criterion, archived panoramic radiographs of nonsyndromic 6535 patients (4077 females and 2058 males) ranging in age from 7 to 18 years old were retrospectively examined to find the presence of tooth agenesis...
January 2017: Journal of the Indian Society of Pedodontics and Preventive Dentistry
https://www.readbyqxmd.com/read/28138106/teratogenicity-of-antiepileptic-drugs
#9
Betül Tekin Güveli, Rasim Özgür Rosti, Alper Güzeltaş, Elif Bahar Tuna, Dilek Ataklı, Serra Sencer, Ensar Yekeler, Hülya Kayserili, Ahmet Dirican, Nerses Bebek, Betül Baykan, Ayşen Gökyiğit, Candan Gürses
Objective: Antiepileptic drugs (AED) have chronic teratogenic effects, the most common of which are congenital heart disease, cleft lip/palate, urogenital and neural tube defects. The aim of our study is to examine teratogenic effects of AED and the correlation between these malformations and AED in single or multiple pregnancies. Methods: This is a retrospective study of malformations in children born to mothers currently followed up by our outpatient clinics who used or discontinued AED during their pregnancy...
February 28, 2017: Clinical Psychopharmacology and Neuroscience: the Official Scientific Journal of the Korean College of Neuropsychopharmacology
https://www.readbyqxmd.com/read/28125145/dental-anomalies-in-an-orthodontic-patient-population-with-maxillary-lateral-incisor-agenesis
#10
Mehmet Citak, Elif Bahar Cakici, Yasin Atakan Benkli, Fatih Cakici, Bircan Bektas, Suleyman Kutalmış Buyuk
Introduction: The purpose of this study was to evaluate the prevalence of dental anomalies in a subpopulation of orthodontic patients with agenesis of maxillary lateral incisors (MLI). Methods: The material of the present study included the records of the 1964 orthodontic patients. Panoramic radiographs and dental casts were used to analyze other associated eight dental anomalies, including agenesis of other teeth, dens invaginatus, dens evaginatus, peg shaped MLI, taurodontism, pulp stone, root dilaceration and maxillary canine impaction...
November 2016: Dental Press Journal of Orthodontics
https://www.readbyqxmd.com/read/28121195/dental-anomaly-patterns-associated-with-tooth-agenesis
#11
Su Ji Choi, Je Woo Lee, Ji Hyun Song
OBJECTIVE: The objective of this study is to evaluate the relationship between tooth agenesis and the occurrence of other dental anomalies in children and adolescents. MATERIAL AND METHODS: Panoramic radiographs of 195 subjects with tooth agenesis, except for the third molar, were retrospectively examined and compared with a non-agenesis control group of 600 subjects. Their ages ranged from 7 to 15 years. Panoramic and periapical radiographs were used to analyze the presence of other associated dental anomalies...
January 25, 2017: Acta Odontologica Scandinavica
https://www.readbyqxmd.com/read/28118519/oral-rehabilitation-with-implant-retained-overdenture-in-a-patient-with-down-syndrome
#12
Nuray Yilmaz Altintas, Serdar Kilic, Subutay Han Altintas
Down syndrome, known as trisomy 21, is the most common chromosomal disorder. The disorder affects mental and systemic development as well as oral structure, including dental anomalies, high susceptibility of periodontal disease, and poor quality of alveolar bone. This report presents a case of dental rehabilitation by means of dental implants of a patient with Down syndrome. Two titanium dental implants were placed in the maxilla, and three titanium dental implants were installed in the mandible. One implant was lost during the osseointegration period...
January 24, 2017: Journal of Prosthodontics: Official Journal of the American College of Prosthodontists
https://www.readbyqxmd.com/read/28105635/dental-and-extra-oral-clinical-features-in-41-patients-with-wnt10a-gene-mutations-a-multicentric-genotype-phenotype-study
#13
C Tardieu, S Jung, K Niederreither, M Prasad, S Hadj-Rabia, N Philip, A Mallet, E Consolino, E Sfeir, B Noueiri, N Chassaing, H Dollfus, M-C Manière, A Bloch-Zupan, F Clauss
WNT10A gene encodes a canonical wingless pathway signaling molecule involved in cell fate specification as well as morphogenetic patterning of the developing ectoderm, nervous system, skeleton, and tooth. In patients, WNT10A mutations are responsible for ectodermal-derived pathologies including isolated hypo-oligodontia, tricho-odonto-onycho-dermal dysplasia (TOODD) and Schöpf-Schulz-Passarge Syndrome (SSPS). Here we describe the dental, ectodermal, and extra-ectodermal phenotypic features of a cohort of 41 patients from 32 unrelated families...
January 20, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28098566/comprehensive-surgical-orthodontic-treatment-of-class-iii-malocclusion-in-cleft-patient-involving-minimally-invasive-surgery-case-report-and-literature-review
#14
Goran Stojkovic, Miodrag Stojkovic, Jasna Stojkovic, Dejan Nikolic, Zoran Stajcic
AIM: Surgical and orthodontic treatment of a teenage cleft patient. CASE REPORT: Authors describe the case of a 13 year old female cleft patient presented with class III malocclusion RESULT: The patient underwent comprehensive surgical secondary bone grafting and orthodontic treatment. Stable skeletal and occlusal class I relationship was achived and maintained in the post treatment observation period till the age of 16. DISCUSSION: Although several authors suggests primary gingivoperiosteoplasty, other advocates that such early intervention can cause later restrictions in maxillary growth...
December 19, 2016: Annali Italiani di Chirurgia
https://www.readbyqxmd.com/read/28076458/risk-of-developing-palatally-displaced-canines-in-patients-with-early-detectable-dental-anomalies-a-retrospective-cohort-study
#15
Daniela Gamba Garib, Melissa Lancia, Renata Mayumi Kato, Thais Marchini Oliveira, Lucimara Teixeira das Neves
Objective: To estimate the risk of PDC occurrence in children with dental anomalies identified early during mixed dentition. Material and Methods: The sample comprised 730 longitudinal orthodontic records from children (448 females and 282 males) with an initial mean age of 8.3 years (SD=1.36). The dental anomaly group (DA) included 263 records of patients with at least one dental anomaly identified in the initial or middle mixed dentition. The non-dental anomaly group (NDA) was composed of 467 records of patients with no dental anomalies...
November 2016: Journal of Applied Oral Science: Revista FOB
https://www.readbyqxmd.com/read/28061824/a-novel-nhs-mutation-causes-nance-horan-syndrome-in-a-chinese-family
#16
Qi Tian, Yunping Li, Rizwana Kousar, Hui Guo, Fenglan Peng, Yu Zheng, Xiaohua Yang, Zhigao Long, Runyi Tian, Kun Xia, Haiying Lin, Qian Pan
BACKGROUND: Nance-Horan Syndrome (NHS) (OMIM: 302350) is a rare X-linked developmental disorder characterized by bilateral congenital cataracts, with occasional dental anomalies, characteristic dysmorphic features, brachymetacarpia and mental retardation. Carrier females exhibit similar manifestations that are less severe than in affected males. METHODS: Here, we report a four-generation Chinese family with multiple affected individuals presenting Nance-Horan Syndrome...
January 7, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/28054790/fusion-of-a-maxillary-central-and-lateral-incisor-with-a-congenitally-missing-lateral-a-10-year-conservative-esthetic-approach
#17
Leslie Stone Hirsh, Peter M Greco, Jay B Laudenbach, Alan M Atlas
Dental fusion and agenesis present unique esthetic challenges for the dental team when discovered in a developing child. This article highlights treatment of a 9-year-old girl with fusion of a maxillary central and lateral incisor with a congenitally missing lateral over a 10-year period. The article defines the developmental anomalies, provides a review of treatment options for the clinical team, and highlights clinical management using a conservative, interdisciplinary approach to esthetic treatment.
January 2017: Compendium of Continuing Education in Dentistry
https://www.readbyqxmd.com/read/28052204/dental-anomalies-in-permanent-teeth-after-trauma-in-primary-dentition
#18
Elena Bardellini, Francesca Amadori, Stefania Pasini, Alessandra Majorana
OBJECTIVE: This retrospective study aims to evaluate the prevalence of dental anomalies in permanent teeth as a result of a trauma concerning the predecessor primary teeth. STUDY DESIGN: A total of 241 records of children (118 males and 123 females, mean age 3.62 ± 1.40) affected by trauma on primary teeth were analyzed. All patients were recalled to evaluate the status of the permanent successor teeth by clinical and radiographic investigations. RESULTS: Out of 241 patients, 106 patients (for a total of 179 traumatized primary teeth) presented at the recall...
2017: Journal of Clinical Pediatric Dentistry
https://www.readbyqxmd.com/read/28043400/dental-issues-in-lacrimo-auriculo-dento-digital-syndrome-an-autosomal-dominant-condition-with-clinical-and-genetic-variability
#19
M J Hajianpour, Hannah Bombei, Scott M Lieberman, Rachael Revell, Rachana Krishna, Robert Gregorsok, Simon Kao, Jeff M Milunsky
BACKGROUND AND OVERVIEW: Lacrimo-auriculo-dento-digital (LADD) syndrome is an autosomal dominant disorder with variable lacrimal and salivary gland hypoplasia and aplasia, auricular anomalies and hearing loss, dental defects and caries, and digital anomalies. CASE DESCRIPTION: The authors present the cases of 2 unrelated children with enamel defects and history of dry mouth leading to recurrent dental caries. The referring diagnoses were Sjögren disease and hypohidrotic ectodermal dysplasia, respectively...
March 2017: Journal of the American Dental Association
https://www.readbyqxmd.com/read/28028986/objectification-of-orthodontic-treatment-needs-does-the-classification-of-malocclusions-or-a-history-of-orthodontic-treatment-matter
#20
Anna Kozanecka, Michał Sarul, Beata Kawala, Joanna Antoszewska-Smith
BACKGROUND: Orthodontic classifications make it possible to give an accurate diagnosis but do not indicate an objective orthodontic treatment need. In order to evaluate the need for treatment, it is necessary to use such indicators as the IOTN. OBJECTIVES: The aim of the study was to find (i) relationships between individual diagnosis and objective recommendations for treatment and (ii) an answer to the question whether and which occlusal anomalies play an important role in the objectification of treatment needs...
November 2016: Advances in Clinical and Experimental Medicine: Official Organ Wroclaw Medical University
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