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https://www.readbyqxmd.com/read/29683802/a-study-of-familial-char-syndrome-involving-the-tfap2b-gene-with-a-focus-on-facial-shape-characteristics
#1
Daniel Nyboe, Sven Kreiborg, Tron Darvann, Morten Dunø, Kamilla R Nissen, Hanne B Hove
In this case study, we investigate a child presenting with patent ductus arteriosus, short philtrum, duck-bill lips, strabismus, a flat nasal bridge, a broad forehead, low-set ears, hypertelorism, up-slanting palpebral fissures, almond-shaped eyes, and hypodontia, all leading to the clinical diagnosis of Char syndrome. Genetic analysis showed heterozygosity for the novel variant c.851T>C, p. Leu284Ser in the TFAP2B gene. Family analysis suggested that at least 20 members, extending six generations back, were affected...
April 20, 2018: Clinical Dysmorphology
https://www.readbyqxmd.com/read/29676859/a-novel-splicing-mutation-of-ectodysplasin-a-gene-responsible-for-hypohidrotic-ectodermal-dysplasia
#2
Guannan Liu, Xin Wang, Man Qin, Lisha Sun, Junxia Zhu
Hypohidrotic ectodermal dysplasia (HED) is characterized by hypohidrosis, hypodontia, sparse hair and characteristic facial features. This condition is caused by an ectodysplasin A (EDA) gene mutation. In this study, we examined two HED pedigrees and investigated the molecular genetics of the defect. Direct sequencing analysis revealed a previously unidentified mutation in the EDA splice donor site (c.526+1G>A). The function of the mutant EDA gene was predicted through online investigations and subsequently confirmed by splicing analysis in vitro...
April 20, 2018: Oral Diseases
https://www.readbyqxmd.com/read/29656806/is-social-media-the-way-to-empower-patients-to-share-their-experiences-of-dental-care
#3
Sophy K Barber, Yung Lam, Trevor M Hodge, Susan Pavitt
BACKGROUND: Social media present opportunities to understand patient experience and information needs. In this study, the authors use hypodontia as an example to explore social media use by dental patients and how this provides for understanding patient experience. METHODS: The cross-sectional survey design involved systematic search of 6 social media online environments with hypodontia-related terms. The authors categorized records by using a coding system for user, type and theme of post, and target audience...
April 12, 2018: Journal of the American Dental Association
https://www.readbyqxmd.com/read/29651058/google-or-your-dentist
#4
Trishala Lakhani
Assessment of information resources for people with hypodontia 2018; 4: 18001 http://dx.doi.org/10.1038/bdjopen.2018.1.
April 13, 2018: British Dental Journal
https://www.readbyqxmd.com/read/29628999/a-review-on-non-syndromic-tooth-agenesis-associated-with-pax9-mutations
#5
REVIEW
Nurul Hasyiqin Fauzi, Yunita Dewi Ardini, Zarina Zainuddin, Widya Lestari
Tooth agenesis in the reduction of tooth number which includes hypodontia, oligodontia and anodontia is caused by disturbances and gene mutations that occur during odontogenesis. To date, several genetic mutations that unlock the causes of non-syndromic tooth agenesis are being discovered; these have been associated with certain illnesses because tooth development involves the interaction of several genes for tooth epithelium and mesenchyme odontogenesis. Mutation of candidate genes PAX9 and MSX1 have been identified as the main causes of hypodontia and oligodontia; meanwhile, AXIN2 mutation is associated with anodontia...
February 2018: Japanese Dental Science Review
https://www.readbyqxmd.com/read/29618326/a-novel-homozygous-mutation-in-polr3a-gene-causing-4h-syndrome-a-case-report
#6
Vishal V Tewari, Ritu Mehta, C M Sreedhar, Kunal Tewari, Akbar Mohammad, Neerja Gupta, Sheffali Gulati, Madhulika Kabra
BACKGROUND: 4H syndrome is a congenital hypomyelinating leukodystrophy characterized by hypodontia, hypomyelination and hypogonadotropic hypogonadism belonging to the Pol III-related leukodystrophies which arise due to mutations in the POLR3A or POLR3B gene. The clinical presentation is of neurodevelopmental delay or regression with ataxia, dystonia, nystagmus, delayed deciduous dentition and abnormal order of eruption of teeth. MRI brain shows a characteristic hypomyelination pattern...
April 4, 2018: BMC Pediatrics
https://www.readbyqxmd.com/read/29616174/management-of-severely-atrophic-maxilla-in-ectrodactyly-ectodermal-dysplasia-cleft-syndrome
#7
Adi Rachmiel, Shahar Turgeman, Omri Emodi, Dror Aizenbud, Dekel Shilo
Background: Ectrodactyly ectodermal dysplasia-cleft syndrome is a rare genetic syndrome with an incidence of 1/90,000 live births, characterized by cleft lip and palate, severely hypoplastic maxilla, and hypodontia. Patients diagnosed with ectrodactyly ectodermal dysplasia-cleft syndrome suffer from a severely hypoplastic maxilla that is highly difficult to treat using traditional orthognathic methods. In this study, we propose using distraction osteogenesis to achieve a major advancement while maintaining good stability and minimal relapse...
February 2018: Plastic and Reconstructive Surgery. Global Open
https://www.readbyqxmd.com/read/29607094/assessment-of-information-resources-for-people-with-hypodontia
#8
Sophy Barber, Sue Pavitt, David Meads, Balvinder Khambay, Hilary Bekker
Aim: To assess the adequacy of patient information to support understanding and decision-making for people affected by hypodontia. Methods: 1) Questionnaire to understand the provision of patient information by dentists; 2) Systematic search to identify online open-access patient information; 3) Quality assessment of written patient information. Results: Questionnaire response rate was 49% (319/649); 91% examined and/or treated people with hypodontia...
2018: BDJ Open
https://www.readbyqxmd.com/read/29595867/aesthetic-satisfaction-in-lip-and-palate-clefts-a-comparative-study-between-secondary-and-tertiary-bone-grafting
#9
E Brauner, F De Angelis, S Jamshir, S Mezi, R C Tiroli, G Pompa, A Quarato, S Di Carlo
Lip and palate cleft represent one of the most frequently occurring congenital deformity, which includes dental anomalies, such as variation in tooth number and position. In case of hypodontia implant-prosthetic rehabilitation offers significant advantages in terms of function, aesthetics and quality of life and bone graft is usually needed. Secondary bone grafting, generally performed in the mixed dentition phase (years 8-11) seems to be the most successful method to allow for rehabilitation. It's often necessary to perform a tertiary bone grafting in adult age in order to achieve better bone quantity and quality before implant placement...
March 2018: La Clinica Terapeutica
https://www.readbyqxmd.com/read/29554450/secondary-dentition-characteristics-in-children-with-nonsyndromic-unilateral-cleft-lip-and-palate-a-retrospective-study
#10
Elaine Li Yen Tan, Meaw Charm Kuek, Hung Chew Wong, Serene Ai Kiang Ong, Mimi Yow
OBJECTIVE: Children with cleft lip and palate are reported to be commonly associated with higher prevalence of dental anomalies such as hypodontia, supernumeraries, and abnormalities in tooth size, shape, and position. This study investigated the prevalence of dental anomalies in a longitudinal cohort of children with unilateral cleft lip and palate (UCLP). DESIGN: The study was a retrospective analysis of radiographs, study models, and treatment notes. PATIENTS: Sixty patients with repaired UCLP aged 13 years old with complete dental records dating from 5 years of age were included...
April 2018: Cleft Palate-craniofacial Journal
https://www.readbyqxmd.com/read/29533933/sanjad-sakati-syndrome-oral-health-care
#11
Yazan Hassona, Dina Taimeh, Lamis Rajab, Crispian Scully
OBJECTIVES: To describe the oro-facial manifestations and dental management in a girl with Sanjad Sakati syndrome. CLINICAL PRESENTATION AND INTERVENTION: Facial features included microcephaly, thin lips, beaked nose, low set ears, and a retrognathic mandible. Oral examination revealed oligodontia/hypodontia, small dental arches, high arched palate, and a deep overbite and increased overjet. Oral rehabilitation involved full coverage prosthetic crowns on upper central incisors, stainless steel crowns on lower molars, and removable partial prostheses to replace missing teeth...
March 13, 2018: Medical Principles and Practice: International Journal of the Kuwait University, Health Science Centre
https://www.readbyqxmd.com/read/29477862/the-brain-lung-thyroid-syndrome-blts-a-novel-deletion-in-chromosome-14q13-2-q21-1-expands-the-phenotype-to-humoral-immunodeficiency
#12
Beatriz Villafuerte, Daniel Natera-de Benito, Aidy González, María A Mori, María Palomares, Julián Nevado, Sixto García-Miñaur, Pablo Lapunzina, Luis I González-Granado, Luis M Allende, José C Moreno
Genetic defects of NKX2-1 are classically associated with hypothyroidism, benign chorea and neonatal respiratory distress. The purpose of this study was to identify the genetic pathogenesis of the "NKX2-1 triad" in a 10 year-old female presenting additional features barely described in the disorder. In the neonatal period, she presented with generalized hypotonia and respiratory distress, with later episodes of frequent wheezing. At 3 month-age developmental dysplasia of the hip was diagnosed and at 10 months, primary hypothyroidism was detected and treated...
February 22, 2018: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/29461745/the-current-evidence-on-retaining-or-prosthodontically-replacing-retained-deciduous-teeth-in-the-adult-hypodontia-patient-a-systematic-review
#13
D P Laverty, K Fairbrother, O Addison
BACKGROUND: This systematic review aims to evaluate the survival of retaining or replacing deciduous teeth in hypodontia patients with a variety of prosthetic tooth replacement options, to evaluate prognostic factors associated with retaining deciduous teeth, and report on patient based outcomes with these treatment modalities. METHODS: MEDLINE, The Cochrane Central Register of Controlled Trials and Science Direct databases were searched (01/1980 - 08/2017) for studies reporting outcomes associated with retaining or replacing deciduous teeth via prosthetic means in adult hypodontia patients...
February 20, 2018: Community Dental Health
https://www.readbyqxmd.com/read/29460531/telescopic-overdenture-on-natural-teeth-prosthetic-rehabilitation-on-ofd-syndromic-patient-and-a-review-on-available-literature
#14
G Minervini, A Romano, M Petruzzi, C Maio, R Serpico, A Lucchese, V Candotto, D Di Stasio
Orofaciodigital syndromes (OFD) are rare genetical disorders characterized by malformations of the mouth (oris), face (facies), hands and feet (digitus = finger, toe). It is still impossible to fully understand the whole spectrum of all dysfunctions due to OFD, since the expressions of the syndrome vary in each patient. There are various alterations, thoroughly described in literature that can affect the oral cavity such as dental caries, abnormal teeth, enamel hypoplasia, supernumerary teeth and dental agenesis...
January 2018: Journal of Biological Regulators and Homeostatic Agents
https://www.readbyqxmd.com/read/29460530/oral-facial-digital-syndrome-ofd-31-year-follow-up-management-and-monitoring
#15
G Minervini, A Romano, M Petruzzi, C Maio, R Serpico, D Di Stasio, A Lucchese
Orofaciodigital syndrome (OFD) is a group of hereditary disorders identified by malformations of the mouth (oris), face (facies), hands and feet (digitus=finger and toe). Although there are several different types reported in the literature, there is a great overlap in their clinical presentation. The full spectrum of all disorders due to OFD is not yet fully understood, since each patient shows variations in the expression of the syndrome. In the oral cavity, teeth are often affected by various alterations, such as dental caries, abnormal teeth, enamel hypoplasia, supernumerary teeth and dental agenesis...
January 2018: Journal of Biological Regulators and Homeostatic Agents
https://www.readbyqxmd.com/read/29429779/ataxia-with-hypodontia-a-unique-leukodystrophy
#16
Amanda D Currie, Swati A Karmarkar
No abstract text is available yet for this article.
December 27, 2017: Pediatric Neurology
https://www.readbyqxmd.com/read/29407495/identification-and-appraisal-of-outcome-measures-used-to-evaluate-hypodontia-care-a-systematic-review
#17
REVIEW
Sophy Barber, Hilary L Bekker, David Meads, Sue Pavitt, Balvinder Khambay
INTRODUCTION: Identification and appraisal of the outcome measures that have been used to evaluate hypodontia treatment and deliver services are essential for improving care. A lack of alignment between outcomes and patient values can limit the scope for patient-centered care. Our objectives were to identify and appraise the outcomes selected to evaluate hypodontia care. METHODS: Data sources included 10 electronic databases and grey literature, searched using terms for hypodontia and its treatment methods...
February 2018: American Journal of Orthodontics and Dentofacial Orthopedics
https://www.readbyqxmd.com/read/29388416/teeth-agenesis-evaluation-in-an-italian-sample-of-complete-unilateral-and-bilateral-cleft-lip-and-palate-patients
#18
Alberto DE Stefani, Giovanni Bruno, Paolo Balasso, Sergio Mazzoleni, Ugo Baciliero, Antonio Gracco
BACKGROUND: The aim of this study is to evaluate the prevalence and the distribution of teeth agenesis inside and outside the cleft area in an Italian population with a non-syndromic unilateral (UCLP) and bilateral (BCLP) cleft lip and palate. METHODS: 233 digital panoramic radiographs (151 females, 82 males) of patients between seven and fifteen years old were recruited from the maxillo-facial surgery clinic of the San Bortolo Hospital of Vicenza according with the following inclusion criteria: unilateral or bilateral cleft lip and palate, no other syndroms, no previous orthodontic treatment, no previous teeth extractions and good quality of digital panoramic radiographs...
January 31, 2018: Minerva Stomatologica
https://www.readbyqxmd.com/read/29380250/pre-maxillary-hypohyperdontia-a-report-of-two-cases
#19
L M Bowdin, S Wong, R P Anthonappa, N M King
BACKGROUND: Hypodontia and hyperdontia are considered to be at opposite ends of the dental development spectrum. Nevertheless, these anomalies may occur concomitantly (hypohyperdontia). CASE REPORT: This clinical report describes two case of hypohyperdontia occurring exclusively in the premaxillary region, and the difficulties associated with its diagnosis and management. Following 24 months of follow-up examinations, Case 1 developed a sequential supernumerary tooth in the tooth 35 region...
January 29, 2018: European Archives of Paediatric Dentistry: Official Journal of the European Academy of Paediatric Dentistry
https://www.readbyqxmd.com/read/29364501/wnt10b-mutations-associated-with-isolated-dental-anomalies
#20
P N Kantaputra, A Hutsadaloi, M Kaewgahya, W Intachai, R German, M Koparal, C Leethanakul, A Tolun, J R Ketudat Cairns
Isolated hypodontia is the most common human malformation. It is caused by heterozygous variants in various genes, with heterozygous WNT10A variants being the most common cause. WNT10A and WNT10B are paralogs that likely evolved from a common ancestral gene after its duplication. Recently, an association of WNT10B variants with oligodontia (severe tooth agenesis) has been reported. We performed mutational analysis in our cohort of 256 unrelated Thai families with various kinds of isolated dental anomalies. In 7 families afflicted with dental anomalies we detected 4 heterozygous missense variants in WNT10B...
May 2018: Clinical Genetics
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