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https://www.readbyqxmd.com/read/28422132/haploinsufficiency-for-ankrd11-flanking-genes-makes-the-difference-between-kbg-and-16q24-3-microdeletion-syndromes-12-new-cases
#1
Francesca Novara, Berardo Rinaldi, Sanjay M Sisodiya, Antonietta Coppola, Sabrina Giglio, Franco Stanzial, Francesco Benedicenti, Alan Donaldson, Joris Andrieux, Rachel Stapleton, Astrid Weber, Paolo Reho, Conny van Ravenswaaij-Arts, Wilhelmina S Kerstjens-Frederikse, Joris Robert Vermeesch, Koenraad Devriendt, Carlos A Bacino, Andrée Delahaye, S M Maas, Achille Iolascon, Orsetta Zuffardi
16q24 deletion involving the ANKRD11 gene, ranging from 137 kb to 2 Mb, have been associated with a microdeletion syndrome characterized by variable cognitive impairment, autism spectrum disorder, facial dysmorphisms with dental anomalies, brain abnormalities essentially affecting the corpus callosum and short stature. On the other hand, patients carrying either deletions encompassing solely ANKRD11 or its loss-of-function variants were reported in association with the KBG syndrome, characterized by a very similar phenotype, including mild-to-moderate intellectual disability, short stature and macrodontia of upper incisors, with inter and intrafamilial variability...
April 19, 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28396791/three-dimensional-representation-of-microdontia-of-the-maxillary-third-molar
#2
Toshiko Inoue, Makoto Saito, Fumio Nishimura, Takashi Miyazaki
Dentists and maxillofacial surgeons may occasionally encounter various dental anomalies in number, shape, size, eruption, etc. In particular, microdontia is relatively rare. Computed tomography during clinical dental examination is essential for early detection of these anomalies.
April 2017: Clinical Case Reports
https://www.readbyqxmd.com/read/28387468/sella-turcica-bridging-and-dental-anomalies-is-there-an-association
#3
Andrea Scribante, Maria Francesca Sfondrini, Marco Cassani, Danilo Fraticelli, Sergio Beccari, Paola Gandini
BACKGROUND: Sella turcica bridging (STB), or calcification of the interclinoid ligament of sella turcica, has been reported to be associated with some dental anomalies (palatal canine impaction and transposition). HYPOTHESIS OR AIM: The aim of the study was to find any association between canine impaction, hyperdontia or hypodontia and sellar dimensions or bridging. DESIGN: Lateral cephalometric radiographs from 78 patients with impacted canines, 68 with dental agenesis and 17 with hyperdontia were collected...
April 7, 2017: International Journal of Paediatric Dentistry
https://www.readbyqxmd.com/read/28387188/deep-sedation-technique-for-dental-rehabilitation-of-a-patient-with-klippel-feil-syndrome
#4
Halima Abukabbos, Michael Mahla, Abi O Adewumi
Klippel-Feil syndrome (KFS) is a congenital anomaly characterized by a defect in the formation or segmentation of the cervical vertebrae, resulting in their fusion. The clinical triad of the syndrome consists of short neck, low posterior hairline, and limited neck movement, although fewer than 50 percent of patients demonstrate all three clinical features. The short neck and its immobility and instability present a significant challenge for endotracheal intubation. The purpose of this paper is to describe the management of a 13-year-old patient with KFS, extensive dental caries, and restricted mouth opening using a deep sedation technique in the operating room, which allowed successful completion of dental treatment...
January 15, 2017: Journal of Dentistry for Children
https://www.readbyqxmd.com/read/28381879/tfap2b-mutation-and-dental-anomalies
#5
Natchaya Tanasubsinn, Rekwan Sittiwangkul, Yupada Pongprot, Katsushige Kawasaki, Atsushi Ohazama, Thanapat Sastraruji, Massupa Kaewgahya, Piranit Nik Kantaputra
Mutations inTFAP2B has been reported in patients with isolated patent ductus arteriosus (PDA) and Char syndrome. We performed mutation analysis of TFAP2B in 43 patients with isolated PDA, 7 patients with PDA with other congenital heart defects and 286 patients with isolated tooth agenesis with or without other dental anomalies. The heterozygous c.1006G>A mutation was identified in 20 individuals. Those mutation carriers consisted of 1 patient with term PDA (1/43), 16 patients with isolated tooth agenesis with or without other dental anomalies (16/286; 5...
April 6, 2017: Journal of Human Genetics
https://www.readbyqxmd.com/read/28348617/assessment-of-oral-health-related-quality-of-life-in-9-15-year-old-children-with-visual-impairment-in-uttarakhand-india
#6
Aditi Singh, Preeti Dhawan, Vivek Gaurav, Pradeep Rastogi, Shilpi Singh
BACKGROUND: To assess the prevalence of dental diseases among 9-15-year-old visually impaired children and find out its impact on their daily activities using the Child-Oral Impact on Daily Performance (C-OIDP) questionnaire in districts of Uttarakhand, India. MATERIALS AND METHODS: A total of 423 visually impaired institutionalized children between the age group of 9-15 years were included in the study. Stratified random sampling technique was used to obtain the study population...
January 2017: Dental Research Journal
https://www.readbyqxmd.com/read/28346501/a-tissue-specific-role-for-intraflagellar-transport-genes-during-craniofacial-development
#7
Elizabeth N Schock, Jaime N Struve, Ching-Fang Chang, Trevor J Williams, John Snedeker, Aria C Attia, Rolf W Stottmann, Samantha A Brugmann
Primary cilia are nearly ubiquitous, cellular projections that function to transduce molecular signals during development. Loss of functional primary cilia has a particularly profound effect on the developing craniofacial complex, causing several anomalies including craniosynostosis, micrognathia, midfacial dysplasia, cleft lip/palate and oral/dental defects. Development of the craniofacial complex is an intricate process that requires interactions between several different tissues including neural crest cells, neuroectoderm and surface ectoderm...
2017: PloS One
https://www.readbyqxmd.com/read/28326102/impacted-maxillary-canine-prevalence-and-its-association-with-other-dental-anomalies-in-a-mexican-population
#8
José Rubén Herrera-Atoche, María Del Rosario Agüayo-de-Pau, Mauricio Escoffié-Ramírez, Fernando Javier Aguilar-Ayala, Bertha Arelly Carrillo-Ávila, Marina Eduviges Rejón-Peraza
Objective. We quantified the prevalence of impacted maxillary canines (IMC) and their association with other dental anomalies (DAs). Materials and Methods. A retrospective study was done with 860 patients 12 to 39 years of age. The prevalence of IMC was calculated and compared by sex. The sample was divided into a control group and an impaction group, and the prevalence was calculated in both for a series of anomalies: agenesis, supernumerary teeth, shape anomalies of the upper laterals (microdontia, peg and barrel shape, and talon cusp), fusion, gemination, other impacted teeth, transposition, and amelogenesis imperfecta...
2017: International Journal of Dentistry
https://www.readbyqxmd.com/read/28321341/singleton-merten-syndrome-a-rare-cause-of-early-onset-aortic-stenosis
#9
Harshavardhan Ghadiam, Sudhir Mungee
Singleton Merten syndrome (SMS) is a rare autosomal dominant genetic disorder with variable expression. Its characteristic features include abnormal aortic calcification, abnormal ossification of extremities, and dental anomalies. We present a young man with dyspnea who was noted to have aortic stenosis in the background of glaucoma, psoriasis, dental anomalies, hand and foot deformities, Achilles tendinitis, osteopenia, and nephrolithiasis. The conglomeration of features led to the diagnosis of SMS. His mother had a very similar phenotype...
2017: Case Reports in Cardiology
https://www.readbyqxmd.com/read/28295540/v-atpases-containing-a3-subunit-play-a-direct-role-in-enamel-development-in-mice
#10
Lisa Johnson, Bernhard Ganss, Andrew Wang, Ralph A Zirngibl, Danielle E Johnson, Celeste Owen, Grace Bradley, Irina Voronov
Vacuolar H(+) -ATPases (V-ATPases) are ubiquitous multisubunit proton pumps responsible for organellar pH maintenance. Mutations in the a3 subunit of V-ATPases cause autosomal recessive osteopetrosis; a rare disease due to impaired bone resorption. Patients with osteopetrosis also display dental anomalies, such as enamel defects; however, it is not clear whether these enamel abnormalities are a direct consequence of the a3 mutations. We investigated enamel mineralization, spatiotemporal expression of enamel matrix proteins and the a3 protein during tooth development using an osteopetrotic mouse model with a R740S point mutation in the V-ATPase a3 subunit...
March 11, 2017: Journal of Cellular Biochemistry
https://www.readbyqxmd.com/read/28288294/a-retrospective-study-of-association-between-peg-shaped-maxillary-lateral-incisors-and-dental-anomalies
#11
Jae-Hwan Kim, Nam-Ki Choi, Seon-Mi Kim
OBJECTIVE: The purpose of this study was to investigate the prevalence of peg-shaped maxillary lateral incisors and the incidence of associated dental anomalies in children. STUDY DESIGN: We investigated the prevalence of peg-laterals and incidence of associated dental anomalies in 3,834 children aged 7-15 who visited the Department of Pediatric Dentistry from January 2010 to December 2015 and underwent panoramic radiographs. RESULTS: The prevalence of peg-laterals was 1...
2017: Journal of Clinical Pediatric Dentistry
https://www.readbyqxmd.com/read/28284207/dental-anomalies-prevalence-and-associations-between-them-in-a-large-sample-of-non-orthodontic-subjects-a-cross-sectional-study
#12
G Laganà, N Venza, A Borzabadi-Farahani, F Fabi, C Danesi, P Cozza
BACKGROUND: To analyze the prevalence and associations between dental anomalies detectable on panoramic radiographs in a sample of non-orthodontic growing subjects. METHODS: For this cross-sectional study, digital panoramic radiographs of 5005 subjects were initially screened from a single radiographic center in Rome. Inclusion criteria were: subjects who were aged 8-12 years, Caucasian, and had good diagnostic quality radiographs. Syndromic subjects, those with craniofacial malformation, or orthodontic patients were excluded and this led to a sample of 4706 subjects [mean (SD) age = 9...
March 11, 2017: BMC Oral Health
https://www.readbyqxmd.com/read/28274040/prevalence-of-colour-vision-anomalies-amongst-dental-professionals-and-its-effect-on-shade-matching-of-teeth
#13
Amrit Khosla, Anuj Paul Maini, Anuj Wangoo, Sukhman Singh, Damanpreet Kaur Mehar
INTRODUCTION: The success of a restoration is dependent on accurate shade matching of teeth leading to studies evaluating the factors affecting the perception of shades. Colour vision anomalies including colour blindness have been found to exist in the population and it has been thought to be a potential factor affecting the colour perception ability. AIM: The present study was done to evaluate the prevalence of colour vision anomalies and its effect on matching of shades of teeth...
January 2017: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/28253185/oral-health-considerations-in-a-patient-with-oligosymptomatic-ectrodactyly-ectodermal-dysplasia-cleft-syndrome
#14
Gaurav Sharma, Archna Nagpal
Ectrodactyly-ectodermal dysplasia-cleft (EEC) syndrome-a complex, pleiotropic disorder resulting in multiple congenital anomalies-has an unpredictable clinical expression and is typically manifested as an autosomal-dominant trait. This article presents a rare case of oligosymptomatic EEC syndrome in a 19-year-old man who exhibited atypical dental findings but no cleft lip or palate. This article is intended to create awareness about this rare syndrome and highlight the role of oral healthcare specialists in improving the quality of life for patients with EEC...
March 2017: General Dentistry
https://www.readbyqxmd.com/read/28253179/prevalence-of-pathologic-findings-in-the-floor-of-the-maxillary-sinuses-on-cone-beam-computed-tomography-images
#15
Aline Fernanda Almeida Da Silva, Gontran Rocha Torres Fróes, Wilton Mitsunari Takeshita, Juliana Batista Melo Da Fonte, Maria Fátima Batista De Melo, Saulo Leonardo Sousa Melo
This study evaluated pathologic findings in the floor of the maxillary sinuses on cone beam computed tomography (CBCT) images. CBCT scans of 500 subjects, mainly taken for dental implant planning, were evaluated. The pathologic findings in the 1000 maxillary sinuses (left and right) were categorized into 4 classes: mucosal thickening, mucous retention pseudocyst, partial opacification, and total opacification. Pathologic alterations were equally found in both sinuses (48.2% of right maxillary sinuses and 48...
March 2017: General Dentistry
https://www.readbyqxmd.com/read/28250421/ankrd11-variants-cause-variable-clinical-features-associated-with-kbg-syndrome-and-coffin-siris-like-syndrome
#16
Satoko Miyatake, Nobuhiko Okamoto, Zornitza Stark, Makoto Nabetani, Yoshinori Tsurusaki, Mitsuko Nakashima, Noriko Miyake, Takeshi Mizuguchi, Akira Ohtake, Hirotomo Saitsu, Naomichi Matsumoto
KBG syndrome (KBGS) is an autosomal dominant multiple congenital anomaly-intellectual disability syndrome, characterized by developmental delay with neurological involvements, macrodontia of the upper central incisors, characteristic facial dysmorphism and skeletal anomalies. Variants in ANKRD11 cause KBGS. We present five individuals from four families with ANKRD11 variants identified by whole-exome sequencing. Four of the five were clinically affected, and their diagnoses were varied. One was typical KBGS, two were Coffin-Siris syndrome-like (CSS), and one was intellectual disability with infantile spasms...
March 2, 2017: Journal of Human Genetics
https://www.readbyqxmd.com/read/28238524/development-of-a-database-to-record-orofacial-manifestations-in-patients-with-rare-diseases-a-status-report-from-the-romse-recording-of-orofacial-manifestations-in-people-with-rare-diseases-database
#17
M Hanisch, L Hanisch, K Benz, J Kleinheinz, J Jackowski
The aim of this working group was to establish a ROMSE (recording of orofacial manifestations in people with rare diseases) database to provide clinicians, patients, and their families with better information about these diseases. In 2011, we began to search the databases Orphanet, OMIM(®) (Online Mendelian Inheritance in Man(®)), and PubMed, for rare diseases with orofacial symptoms, and since 2013, the collected information has been incorporated into a web-based, freely accessible database. To date, 471 rare diseases with orofacial signs have been listed on ROMSE, and 10 main categories with 99 subcategories of signs such as different types of dental anomalies, changes in the oral mucosa, dysgnathia, and orofacial clefts, have been defined...
February 23, 2017: British Journal of Oral & Maxillofacial Surgery
https://www.readbyqxmd.com/read/28209013/identifying-aarskog-syndrome
#18
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
#19
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
#20
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
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