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https://www.readbyqxmd.com/read/29127258/homozygous-mutation-in-cep19-a-gene-mutated-in-morbid-obesity-in-bardet-biedl-syndrome-with-predominant-postaxial-polydactyly
#1
Esra Yıldız Bölükbaşı, Sara Mumtaz, Muhammad Afzal, Ute Woehlbier, Sajid Malik, Aslıhan Tolun
BACKGROUND: Bardet-Biedl syndrome (BBS) is a ciliopathy with extensive phenotypic variability and genetic heterogeneity. We aimed to discover the gene mutated in a consanguineous kindred with multiple cases of a BBS phenotype. METHODS: SNP genotype data were used for linkage analysis and exome sequencing to identify mutations. Modelling and in silico analysis were performed to predict mutation severity. RESULTS: Patients had postaxial polydactyly plus variable other clinical features including rod-cone dystrophy, obesity, intellectual disability, renal malformation, developmental delay, dental anomalies, speech disorder and enlarged fatty liver...
November 10, 2017: Journal of Medical Genetics
https://www.readbyqxmd.com/read/29121437/a-novel-pitx2-mutation-in-non-syndromic-oro-dental-anomalies
#2
Narin Intarak, Thanakorn Theerapanon, Chupong Ittiwut, Kanya Suphapeetiporn, Thantrira Porntaveetus, Vorasuk Shotelersuk
OBJECTIVE: To identify oro-dental characteristics and genetic etiology of a family affected with non-syndromic oro-dental anomalies. SUBJECTS AND METHODS: Physical and oral features were characterised. DNA was collected from an affected Thai family. Whole exome sequencing was employed to identify the pathogenic variants associated with inherited oro-dental anomalies. The presence of the identified mutation was confirmed by Sanger sequencing. RESULTS: We observed unique oro-dental manifestations including oligodontia, retained primary teeth, taurodont molars, peg-shaped maxillary central incisors, high attached frenum with nodule, and midline diastema in the proband and her mother...
November 9, 2017: Oral Diseases
https://www.readbyqxmd.com/read/29114927/genetic-study-of-non-syndromic-tooth-agenesis-through-the-screening-of-paired-box-9-msh-homeobox-1-axin-2-and-wnt-family-member-10a-genes-a-case-series
#3
Marwa Haddaji Mastouri, Peter De Coster, Aicha Zaghabani, Frej Jammali, Nabiha Raouahi, Amina Ben Salem, Ali Saad, Paul Coucke, Dorra H'mida Ben Brahim
Non-syndromic tooth agenesis (NSTA) is the most common developmental anomaly in humans. Several studies have been conducted on dental agenesis and numerous genes have been identified. However, the pathogenic mechanisms responsible for NSTA are not clearly understood. We studied a group of 28 patients with sporadic NSTA and nine patients with a family history of tooth agenesis. We focused on four genes - paired box 9 (PAX9), Wnt family member 10A (WNT10A), msh homeobox 1 (MSX1), and axin 2 (AXIN2) - using direct Sanger sequencing of the exons and intron-exon boundaries...
November 8, 2017: European Journal of Oral Sciences
https://www.readbyqxmd.com/read/29109753/agenesis-of-permanent-canines-rare-case-report
#4
Sumit Kumar Yadav, Achla Bharti Yadav, Neal Bharat Kedia, Abhinav Kumar Singh
Agenesis of permanent canines is a rare condition, and that of both maxillary and mandibular permanent canines is extremely rare. It may occur either isolated or in association with other dental anomalies. Reports of such cases are very scarce in the literature. Need for early diagnosis of such conditions should be emphasized because of functional, esthetic, and psychological problems which should be evaluated and treated appropriately. The present paper presents a report of bilaterally missing permanent maxillary and mandibular canines...
September 2017: Dental Research Journal
https://www.readbyqxmd.com/read/29109317/prevalence-of-dental-malocclusions-in-patients-admitted-to-the-department-of-orthodontics-school-of-dentistry-tabriz-in-2016
#5
Mohammad H Ahangar-Atashi, Fatemeh Dabaghi-Tabriz, Sina Ahangar-Atashi, Mahdi Rahbar
AIM: This study is aimed at investigating the prevalence of disorders among patients referred to Tabriz Dental School in 2016. MATERIALS AND METHODS: This research was conducted in a cross-section method and taken from all patients admitted during this period. Classification of dental occlusion in patients was based on Angle's definition, skeletal classification was based on Steiner's analysis, and overjet and overbite values and other patient-related information were imported from the records in the extractive sector and in specific forms...
November 1, 2017: Journal of Contemporary Dental Practice
https://www.readbyqxmd.com/read/29100920/4q25-microdeletion-encompassing-pitx2-a-patient-presenting-with-tetralogy-of-fallot-and-dental-anomalies-without-ocular-features
#6
P Vande Perre, C Zazo Seco, O Patat, L Bouneau, A Vigouroux, D Bourgeois, S El Hout, N Chassaing, P Calvas
Axenfeld-Rieger syndrome (ARS) is a heterogeneous clinical entity transmitted in an autosomal dominant manner. The main feature, Axenfeld-Rieger Anomaly (ARA), is a malformation of the anterior segment of the eye that can lead to glaucoma and impair vision. Extra-ocular defects have also been reported. Point mutations of FOXC1 and PITX2 are responsible for about 40% of the ARS cases. We describe the phenotype of a patient carrying a deletion encompassing the 4q25 locus containing PITX2 gene. This child presented with a congenital heart defect (Tetralogy of Fallot, TOF) and no signs of ARA...
October 31, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/29099695/algorithm-for-treatment-of-patients-with-mesial-occlusion-using-proprietary-orthodontic-device
#7
P Flis, V Filonenko, N Doroshenko
Early elimination of dentoalveolar apparatus orthodontic disorders is the dominant concept in the treatment technique. AIM: to present a sagittal anomalies treatment algorithm, of Class III particularly, in the transitional bite period by the proposed design of individual orthodontic devices with a movable ramp. The treatment algorithm consisted of several blocks: the motivation, the etiological factors establishment, the plan and treatment tactics creation basing on careful diagnosis, the stages of the active period of treatment and the patient management in the retention period...
October 2017: Georgian Medical News
https://www.readbyqxmd.com/read/29090126/multidisciplinary-management-of-a-fused-maxillary-central-incisor-moved-through-the-midpalatal-suture-a-case-report
#8
Hakan Bulut, Aylin Pasaoglu
Fusion of teeth is a developmental anomaly. It occurs at the stage of tooth formation, which determines the shape and size of the tooth crown, when one or more teeth fuse at the dentin level during the morphodifferentiation of the dental germs. Such teeth show macrodontia and may cause crowding, as well as esthetic and endodontic problems. In this article, we report a rare case of a maxillary central incisor fused to a supernumerary tooth showing labial and palatal talon cusps, which was orthodontically moved across the midpalatal suture...
November 2017: Korean Journal of Orthodontics
https://www.readbyqxmd.com/read/29059942/characterization-of-dental-pathologies-using-digital-panoramic-x-ray-images-based-on-texture-analysis
#9
Divya K Veena, Anand Jatti, Revan Joshi, Krishna S Deepu
Dental caries and the cysts of jaws are frequently occurring pathologies encountered in a dental practice. Imaging of these dental anomalies is done with radiographic examination. Panoramic radiography/ Orthopantomography (OPG) is a common modality to screen patients with an advantage of ease of imaging and reduced exposure to patients. The panoramic images obtained with this equipment are exploited by noise embedded during its acquisition making the detection of this dental caries difficult. Detection and characterization of dental caries and various other maxilla-facial pathologies can be achieved by the application of computer aided image processing algorithms applied on dental panoramic images...
July 2017: Conference Proceedings: Annual International Conference of the IEEE Engineering in Medicine and Biology Society
https://www.readbyqxmd.com/read/29043971/-what-are-the-treatment-needs-in-adults-an-evaluation-of-258-cases-by-the-iotn
#10
Sarah Gebeile-Chauty, William Birraux
INTRODUCTION: The aim of this epidemiological study was to evaluate the need for orthodontic treatment in a sample of adults living in France. MATERIALS AND METHODS: The indicator selected was the dental component, IOTN (index of orthodontic treatment need). RESULTS: Among the 258 adults evaluated, 37% of patients had a strong need and 21% had a moderate need; 29% of those aged 35 and under were in strong need for treatment compared with 47% of those over 35 years, with the need for treatment increasing with age...
September 2017: L' Orthodontie Française
https://www.readbyqxmd.com/read/29042740/arteriovenous-malformation-of-face
#11
Ashok Kumar, Meenu Mittal, Dhirendra Srivastava, Vipul Jaetli, Sunil Chaudhary
Arteriovenous malformations (AVMs) are rare congenital vascular malformations accounting only 1.5% of all vascular anomalies with 50% occurrence in the oral and maxillofacial region. It usually results from birth defects of the vasculature. A literature search revealed only few case reports of AVMs in the facial region. Lack of meticulous diagnosis, scarcity of knowledge, and paucity of literature can result in their exsanguinations leading to fatal hemorrhagic incidents after various dental procedures such as tooth extraction, surgical intervention, puncture wound, or blunt injury in involved area...
July 2017: Contemporary Clinical Dentistry
https://www.readbyqxmd.com/read/29042737/nance-horan-syndrome-a-rare-case-report
#12
Shambhu Sharma, Pankaj Datta, Janak Raj Sabharwal, Sonia Datta
Dentofacial anomalies may guide us to the diagnosis of many congenital and hereditary syndromes. A 9-year-old boy was diagnosed with Nance-Horan syndrome. This syndrome is an extremely rare X-linked genetic disorder which is entirely expressed in males with semi-dominant transmission which results from mutations occurring in male gametes. It is characterized by facial dysmorphism such as long face, prominent nose and mandibular prognathism, ocular abnormalities such as congenital cataract, microcornea, microphthalmia and strabismus, and dental anomalies including mulberry molars and screwdriver-shaped incisors...
July 2017: Contemporary Clinical Dentistry
https://www.readbyqxmd.com/read/29034420/prevalence-of-dental-agenesis-in-a-sample-of-italian-orthodontic-patients-an-epidemiological-study
#13
Antonio L T Gracco, Serena Zanatta, Filippo Forin Valvecchi, Denis Bignotti, Alessandro Perri, Francesco Baciliero
BACKGROUND: The congenital absence of one or more teeth is a dental anomaly that frequently occurs in the world's population with a wide variability of distribution. The aim of this study is to assess the current prevalence of dental agenesis in the permanent dentition (excluding third molars) using a sample of Italian orthodontic patients. METHODS: Panoramic radiographs of 4006 Caucasian children between 9 and 16 years of age (1865 males and 2141 females) performed over a 5-year period (from 2010 to 2015) were carefully examined to identify congenital missing teeth...
October 16, 2017: Progress in Orthodontics
https://www.readbyqxmd.com/read/29034274/prevalence-and-characteristics-of-developmental-dental-anomalies-in-iranian-orofacial-cleft-patients
#14
Shabnam Ajami, Hamidreza Pakshir, Hedyeh Samady
STATEMENT OF THE PROBLEM: Individuals with oral clefts exhibit considerably more dental anomalies than individuals without clefts. These problems could initially be among the symptoms of their disease and/or they may be the side effect of their treatments. Pushback palatoplasty could cause some interference during the development of teeth and result in tooth defects. PURPOSE: The study was performed to assess the prevalence and characteristics of developmental dental anomalies in orofacial cleft patients who attended Shiraz Orthodontics Research Center-Cleft Lip and Palate Clinic...
September 2017: Journal of Dentistry
https://www.readbyqxmd.com/read/29033484/congenital-malformation-and-autism-spectrum-disorder-insight-from-a-rat-model-of-autism-spectrum-disorder
#15
Rakesh K Ruhela, Phulen Sarma, Shringika Soni, Ajay Prakash, Bikash Medhi
AIMS AND OBJECTIVES: The primary aim was an evaluation of the pattern of gross congenital malformations in a rat model of autism spectrum disorder (ASD) and the secondary aim was characterization of the most common gross malformation observed. MATERIALS AND METHODS: In females, the late pro-oestrous phase was identified by vaginal smear cytology, and then, they were allowed to mate at 1:3 ratio (male: female). Pregnancy was confirmed by the presence of sperm plug in the vagina and presence of sperm in the vaginal smear...
May 2017: Indian Journal of Pharmacology
https://www.readbyqxmd.com/read/29020731/clinical-risk-factors-influencing-dental-developmental-disturbances-in-childhood-cancer-survivors
#16
Chung-Min Kang, Seung Min Hahn, Hyo Sun Kim, Chuhl Joo Lyu, Jae-Ho Lee, Jinae Lee, Jung Woo Han
Purpose: Although studies regarding dental developmental disturbances after childhood cancer treatment have increased, they have many limitations. Studies analyzing the significance of independent clinical risk factors with regard to the dental health status are also rare. We aimed to investigate the risk factors for dental developmental disturbances, particularly severe disturbances, in childhood cancer survivors (CCS). Materials and Methods: Oral examinations and retrospective reviews of medical and panoramic radiographs were performed for 196 CCS (mean age, 15...
October 10, 2017: Cancer Research and Treatment: Official Journal of Korean Cancer Association
https://www.readbyqxmd.com/read/28992378/grem2-nucleotide-variants-and-the-risk-of-tooth-agenesis
#17
Adrianna Mostowska, Barbara Biedziak, Małgorzata Zadurska, Agnieszka Bogdanowicz, Aneta Olszewska, Katarzyna Cieślińska, Ewa Firlej, Paweł P Jagodziński
OBJECTIVE: The etiology of tooth agenesis is multifactorial and still not fully understood. The aim of the study was to test whether variants of GREM2, encoding a BMP antagonist, are associated with the risk of this common dental anomaly in a Polish population. SUBJECTS AND METHODS: Direct sequencing of the GREM2 coding sequence including exon/intron boundaries was performed in 95 patients with both hypodontia and oligodontia. All identified GREM2 variants were then further tested in an independent group of patients (n=163) and controls (n=184)...
October 9, 2017: Oral Diseases
https://www.readbyqxmd.com/read/28978274/a-case-of-congenital-supernumerary-teeth-in-an-ovine-dental-pad
#18
Juan Alberto Corbera, Immaculada Morales, Sergio Martin, Alberto Arencibia, Carlos Gutierrez
A rare case of congenital supernumerary teeth, also known as hyperdontia, observed in a healthy 8-month-old female ewe is presented. The congenital defect consisted of the presence of 2 incisor teeth embedded in the lateral areas of the dental pad. The anomaly was found during a routine physical examination and no other congenital abnormalities were found in the patient. No prior congenital abnormalities had been seen in the herd and the study of possible associated teratogenic factors was inconclusive. To the authors' knowledge, this ovine odontogenic abnormality has not been described in the literature and appears to be an extraordinarily rare condition...
January 1, 2017: Journal of Veterinary Dentistry
https://www.readbyqxmd.com/read/28972279/axenfeld-rieger-syndrome
#19
REVIEW
Morteza Seifi, Michael A Walter
Axenfeld-Rieger syndrome (ARS) is a clinically and genetically heterogeneous group of developmental disorders affecting primarily the anterior segment of the eye, often leading to secondary glaucoma. Patients with ARS may also present with systemic changes including dental defects, mild craniofacial dysmorphism, and umbilical anomalies. ARS is inherited in an autosomal dominant fashion; the underlying defect in 40% of patients is mutations in PITX2 or FOXC1. Here, an overview of the clinical spectrum of ARS is provided...
October 3, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28969278/expressional-analysis-of-msx1-human-revealed-its-role-in-sagittal-jaw-relationship
#20
Prateek Gupta, Thakur Prasad Chaturvedi, Vipul Sharma
INTRODUCTION: Abnormal skeletal jaw relationships is an important factor causing difficulty in speech, mastication, sleep and social interaction, thus affect the overall well being of an individual. AIM: The present study was an attempt to decipher the role of human MSX1 in terms of sagittal jaw relationship by employing Polymerase Chain Reaction (PCR) based analysis. MATERIALS AND METHODS: Ninety-eight case subjects belonging to North India with skeletal Class II and Class III jaw relationships were selected...
August 2017: Journal of Clinical and Diagnostic Research: JCDR
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