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Hypodontia

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https://www.readbyqxmd.com/read/29178640/expanding-the-mutational-spectrum-in-johanson-blizzard-syndrome-identification-of-whole-exon-deletions-and-duplications-in-the-ubr1-gene-by-multiplex-ligation-dependent-probe-amplification-analysis
#1
Maja Sukalo, Eva Schäflein, Ina Schanze, David B Everman, Nima Rezaei, Jesús Argente, Isabel Lorda-Sanchez, Charu Deshpande, Tsutomu Takahashi, Alexander Kleger, Martin Zenker
BACKGROUND: Johanson-Blizzard syndrome (JBS, MIM #243800) is a very rare autosomal recessive disorder characterized by exocrine pancreatic insufficiency, nasal wing hypoplasia, hypodontia, and other abnormalities. JBS is caused by mutations of the UBR1 gene (MIM *605981), encoding a ubiquitin ligase of the N-end rule pathway. METHODS: Molecular findings in a total of 65 unrelated patients with a clinical diagnosis of JBS who were previously screened for UBR1 mutations by Sanger sequencing were reviewed and cases lacking a disease-causing UBR1 mutation on either one or both alleles were included in this study...
November 2017: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/29167708/tooth-abnormalities-in-individuals-with-unilateral-alveolar-clefts-a-comparison-between-sides-using-cone-beam-computed-tomography
#2
Bruno-Torres Bezerra, John-Nadson-Andrade Pinho, Luiz-Carlos-Ferreira da Silva
Background: Tooth abnormalities are most often present in individuals with oral clefts than general population, and lead to a long-term impact on facial anatomy and self-esteem. The purpose of this study was to compare the proportion of dental anomalies between the cleft side and non-cleft side in individuals with non-syndromic unilateral alveolar clefts (AC). Material and Methods: Twenty cone beam computed tomography (CBCT) scans were converted into three-dimensional (3D) virtual models...
October 2017: Journal of Clinical and Experimental Dentistry
https://www.readbyqxmd.com/read/29147600/osteoglophonic-dysplasia-phenotypic-and-radiological-clues
#3
Shwetha Kuthiroly, Dhanya Yesodharan, Aneesh Ghosh, Kenneth E White, Sheela Nampoothiri
Osteoglophonic dysplasia (OD) is an extremely rare, skeletal dysplasia with an autosomal dominant mode of inheritance. Rhizomelic dwarfism, craniosynostosis, impacted teeth, hypodontia or anodontia, and multiple nonossifying bone lesions are the salient features of this condition. We report a 14-year-old girl with clinical and radiological features consistent with OD. She presented with disproportionate short stature, craniosynostosis, a prominent supraorbital ridge, delayed teeth eruption, hypodontia, and multiple nonossifying bone lesions in the femur, tibia, and fibula...
December 2017: Journal of Pediatric Genetics
https://www.readbyqxmd.com/read/29080079/obeservations-on-association-between-third-molar-agenesis-and-craniofacial-morphology
#4
Yi Huang, Yinqiu Yan, Jing Cao, Bingjie Xie, Xueling Xiao, Mengqi Luo, Ding Bai, Xianglong Han
OBJECTIVE: This study was designed to examine the relationship between third molar agenesis and skeletal morphology in the Chinese population. MATERIALS AND METHODS: A total of 1043 patients' records were analyzed with panoramic radiographs and cephalograms. Congenitally missing third molars were assessed with respect to gender, jaw, and side, and assessed in various types of facial morphology. Linear, angular, and proportional cephalometric measurements were analyzed and compared among the samples...
November 2017: Journal of Orofacial Orthopedics, Fortschritte der Kieferorthopädie
https://www.readbyqxmd.com/read/29064544/width-of-dental-arches-in-patients-with-maxillary-midline-diastema
#5
Anna Sękowska, Renata Chałas, Izabella Dunin-Wilczyńska
AIM: The aims of the study were following: 1. Examine the width of the dental arches of patients with maxillary midline diastema and comparison with control group. 2. Investigate the impact of the width of upper dental arch to the width of diastema. MATERIAL AND METHODS: Diagnostic orthodontic plaster models of 102 patients with permanent dentition were studied. Patients were divided into two groups: study group with diastema and control group without diastema. Patients with severe malocclusion, craniofacial diseases, hypodontia and mikrodontia of teeth and patients with periodontal disease were excluded...
October 24, 2017: Folia Morphologica (Warsz)
https://www.readbyqxmd.com/read/29034420/prevalence-of-dental-agenesis-in-a-sample-of-italian-orthodontic-patients-an-epidemiological-study
#6
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
#7
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/29016739/association-between-severity-of-hypodontia-and-cephalometric-skeletal-patterns-a-retrospective-study
#8
Waleed Taju, Martyn Sherriff, Dirk Bister, Sophia Shah
Objective: To assess if severity of hypodontia is related to a specific skeletal pattern. Study design: Lateral cephalometric radiographs and dental panoramic tomographs of 182 hypodontia patients were analysed. The severity of hypodontia was recorded and the sample was divided into groups with mild (n = 71), moderate (n = 56) and severe (n = 55) hypodontia. According to ethnicity, the sample was further subdivided into White Caucasians, African-British, and Arabian/Indian subgroups...
July 11, 2017: European Journal of Orthodontics
https://www.readbyqxmd.com/read/28992378/grem2-nucleotide-variants-and-the-risk-of-tooth-agenesis
#9
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/28933802/invesigation-of-prevalence-of-dental-anomalies-by-using-digital-panoramic-radiographs
#10
Nebiha Hilal Bilge, Selin Yeşiltepe, Kübra Törenek Ağırman, Fatma Çağlayan, Osman Murat Bilge
BACKGROUND: This study was performed to evaluate the prevalence of all types and subtypes of dental anomalies among 6 to 40 year-old patients by using panoramic radiographs. MATERIALS AND METHODS: This cross-sectional study was conducted by analyzing digital panoramic radiographs of 1200 patients admitted to our clinic in 2014. Dental anomalies were examined under 5 types and 16 subtypes. Dental anomalies were divided into five types: (a) number (including hypodontia, oligodontia and hyperdontia); (b) size (including microdontia and macrodontia); (c) structure (including amelogenesis imperfecta, dentinogenesis imperfecta and dentin dysplasia); (d) position (including transposition, ectopia, displacement, impaction and inversion); (e) shape (including fusion-gemination, dilaceration and taurodontism); RESULTS: The prevalence of dental anomalies diagnosed by panoramic radiographs was 39...
September 21, 2017: Folia Morphologica (Warsz)
https://www.readbyqxmd.com/read/28917830/al-awadi-raas-rothschild-syndrome-with-dental-anomalies-and-a-novel-wnt7a-mutation
#11
Piranit Nik Kantaputra, Seema Kapoor, Prashant Verma, Massupa Kaewgahya, Katsushige Kawasaki, Atsushi Ohazama, James R Ketudat Cairns
Al-Awadi-Raas-Rothschild syndrome (AARRS; OMIM 276820) is a very rare autosomal recessive limb malformation syndrome caused by WNT7A mutations. AARRS is characterized by various degrees of limb aplasia and hypoplasia. Normal intelligence and malformations of urogenital system are frequent findings. Complete loss of WNT7A function has been shown to cause AARRS, however, its partial loss leads to the milder malformation, Fuhrmann syndrome. An Indian boy affected with AARRS is reported. A novel homozygous base substitution mutation c...
September 14, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28883592/maternal-smoking-during-pregnancy-is-associated-with-offspring-hypodontia
#12
(no author information available yet)
'...maternal smoking during pregnancy is a risk factor for having a child with hypodontia.'
September 8, 2017: British Dental Journal
https://www.readbyqxmd.com/read/28877528/x-linked-hypohidrotic-ectodermal-dysplasia-new-features-and-a-novel-eda-gene-mutation
#13
Salvatore Savasta, Giorgia Carlone, Riccardo Castagnoli, Francesca Chiappe, Francesco Bassanese, Roberta Piras, Vincenzo Salpietro, Valeria Brazzelli, Alberto Verrotti, Gian L Marseglia
We described a 5-year-old male with hypodontia, hypohidrosis, and facial dysmorphisms characterized by a depressed nasal bridge, maxillary hypoplasia, and protuberant lips. Chromosomal analysis revealed a normal 46,XY male karyotype. Due to the presence of clinical features of hypohidrotic ectodermal dysplasia (HED), the EDA gene, located at Xq12q13.1, of the patient and his family was sequenced. Analysis of the proband's sequence revealed a missense mutation (T to A transversion) in hemizygosity state at nucleotide position 158 in exon 1 of the EDA gene, which changes codon 53 from leucine to histidine, while heterozygosity at this position was detected in the slightly affected mother; moreover, this mutation was not found in the publically available Human Gene Mutation Database...
2017: Cytogenetic and Genome Research
https://www.readbyqxmd.com/read/28875142/van-der-woude-syndrome-presenting-as-a-single-median-lower-lip-pit-with-associated-dental-orofacial-and-limb-deformities-a-rare-case-report
#14
Sunil Richardson, Rakshit Vijay Khandeparker
Although it is a rare developmental malformation, van der Woude syndrome is the most common form of syndromic orofacial clefting, accounting for approximately 2% of all cleft cases. The lower lip pits with or without a cleft lip or palate is characteristic of the syndrome. Findings, such as hypodontia, limb deformities, popliteal webs, ankylogossia, ankyloblepheron, and genitourinary and cardiovascular abnormalities, are rarely associated with the syndrome. This paper reports a rare case of van der Woude syndrome in a 10-year-old male patient with a single median lower lip pit and a repaired bilateral cleft lip and cleft palate that were associated with microstomia, hypodontia, and clubbing of the left foot with syndactyly of the second to fifth lesser toes of the same foot...
August 2017: Journal of the Korean Association of Oral and Maxillofacial Surgeons
https://www.readbyqxmd.com/read/28875069/mutation-detection-and-prenatal-diagnosis-of-xlhed-pedigree
#15
Yao Lin, Wei Yin, Zhuan Bian
BACKGROUND: The phenotypic characters of X -linked Hypohidrotic Ectodermal Dysplasia (XLHED) are the dysplasia of epithelial- and mesenchymal-derived organs. Ectodysplasin (EDA) is the causative gene of XLHED. METHODS: The current study reported a large Chinese XLHED pedigree. The genomic DNA of adult and fetus was extracted from peripheral blood and shed chorion cell respectively. The nucleotide variation in EDA gene was screened through direct sequencing the coding sequence...
2017: PeerJ
https://www.readbyqxmd.com/read/28869085/success-rates-and-complications-of-autologous-onlay-bone-grafts-and-sinus-lifts-in-patients-with-congenital-hypodontia-and-after-trauma
#16
J Breeze, J Patel, M S Dover, R W Williams
Autogenous bone remains the gold standard for augmentation of the alveolar ridge in congenital hypodontia and appreciable post-traumatic deformity. This generally reflects the volume of material required for such defects and the osteogenic potential of the grafts. Morbidity at the donor site and success rates may lead to autogenous grafts being superseded by xenografts or alloplastic materials in the future, but we know of little evidence to confirm this. All patients having augmentation of the alveolar ridge or sinus lift to enable subsequent placement of implants between 01 January 2009 and 31 December 2016 were identified from a prospectively-gathered database held at the Queen Elizabeth Hospital, Birmingham...
August 28, 2017: British Journal of Oral & Maxillofacial Surgery
https://www.readbyqxmd.com/read/28862593/prosthetic-rehabilitation-in-a-pediatric-patient-with-hypohidrotic-ectodermal-dysplasia-a-case-report
#17
Luís Eduardo Lavigne Paranhos Quintanilha, Luís Eduardo Carneiro-Campos, Lívia Azeredo Alves Antunes, Leonardo Santos Antunes, Claudio Pinheiro Fernandes, Fernanda Volpe Abreu
Hypohidrotic ectodermal dysplasia (HED) is a rare ectodermal disease with a systemic expression. Oral abnormalities are common and may include hypodontia and shape irregularities in the primary and permanent dentitions. Rehabilitation of the dental arches in pediatric patients with HED is a challenge because HED is a multifactorial disease that demands a complicated treatment approach and most dentists have limited experience or training in the necessary treatment. In addition, pediatric patients often lack the patience or ability to cooperate with complex prosthetic treatment...
September 2017: General Dentistry
https://www.readbyqxmd.com/read/28853514/-effect-of-maternal-health-and-prenatal-environmental-exposure-factors-on-tooth-development
#18
Wan Mian, Zhou Xuedong, Zheng Liwei
Odontogenesis is a consequence of a complex series of reciprocal signal interactions between odontogenic epithelium and neural crest-derived odontotgenic mesenchyme. These interactions result from a complex interplay of genetic and environmental factors. Given that a fetus develops in the mother, maternal health and environmental exposures have a great influence on tooth development. In this review, we focused on the key issues in the developmental defects of teeth induced by various types of maternal environmental factors, including environmental endocrine disruptors, joint action of two or more chemical exposures, and maternal health status...
August 1, 2017: Hua Xi Kou Qiang Yi Xue za Zhi, Huaxi Kouqiang Yixue Zazhi, West China Journal of Stomatology
https://www.readbyqxmd.com/read/28845899/pfeiffer-syndrome-oral-healthcare-management-and-description-of-new-dental-findings-in-a-craniosynostosis
#19
Yazan Hassona, Abeer Al-Hadidi, Thaer Abu Ghlassi, Hanin El Dali, Crispian Scully
Pfeiffer syndrome is a rare fibroblast growth factor receptor-related craniosynostosis with variable clinical presentations. We describe new dental findings of hypodontia, microdontia, dilacerations, and radicular dentin dysplasia in a 19-year-old girl, and discuss the oral health management.
August 28, 2017: Special Care in Dentistry
https://www.readbyqxmd.com/read/28840044/cosmetic-remodeling-of-the-smile-combining-composite-resin-and-ceramics-over-teeth-and-implants
#20
Leonardo Fernandes da Cunha, Ubiracy Gaião, Rafael Coutinho Silva, Carla Castiglia Gonzaga, Gisele Maria Correr
The aim of this paper is to describe a restorative approach to the cosmetic remodeling of the teeth of a young adult patient with right maxillary lateral hypodontia and left lateral microdontia. A conservative restorative management was proposed to improve smile esthetics by combining direct composite resins and ceramics. Initially, periodontal therapy and dental bleaching were performed. Subsequently, direct composite resins were applied to the central incisors and canines to reestablish the sizes and shapes of these teeth...
2017: Case Reports in Dentistry
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