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Hypodontia

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https://www.readbyqxmd.com/read/28298625/periodontal-disease-and-fam20a-mutations
#1
Piranit Nik Kantaputra, Chotika Bongkochwilawan, Mark Lubinsky, Supansa Pata, Massupa Kaewgahya, Huei Jinn Tong, James R Ketudat Cairns, Yeliz Guven, Nipon Chaisrisookumporn
Enamel-renal-gingival syndrome (ERGS; OMIM #204690), a rare autosomal recessive disorder caused by mutations in FAM20A, is characterized by nephrocalcinosis, nephrolithiasis, amelogenesis imperfecta, hypoplastic type, gingival fibromatosis and other dental abnormalities, including hypodontia and unerupted teeth with large dental follicles. We report three patients and their families with findings suggestive of ERGS. Mutation analysis of FAM20A was performed in all patients and their family members. Patients with homozygous frameshift and compound heterozygous mutations in FAM20A had typical clinical findings along with periodontitis...
March 16, 2017: Journal of Human Genetics
https://www.readbyqxmd.com/read/28293528/intermediate-phenotype-between-adult-syndrome-and-eec-syndrome-caused-by-r243q-mutation-in-tp63
#2
Yuki Otsuki, Koichi Ueda, Chisei Satoh, Ryuta Maekawa, Koh-Ichiro Yoshiura, Sachiko Iseki
A patient who had ectrodactyly, dry skin, exfoliative dermatitis, and hypodontia with peg-shaped teeth, but not cleft lip and palate, is described. Ectrodactyly with a tooth anomaly is recognized in both acro-dermato-ungual-lacrimal-tooth (ADULT) syndrome and ectrodactyly-ectodermal dysplasia-cleft (EEC) syndrome. These 2 syndromes are caused by heterozygous mutations in the transcriptional factor gene p63. Mutation analysis of p63 gene showed a heterozygous mutation c.728G>A, p.Arg243Gln (previously referred to as R204Q) in the patient, but not in his parents...
December 2016: Plastic and Reconstructive Surgery. Global Open
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
#3
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/28249300/4h-leukodystrophy-a-brain-magnetic-resonance-imaging-scoring-system
#4
Suzanne Vrij-van den Bos, Janna A Hol, Roberta La Piana, Inga Harting, Adeline Vanderver, Frederik Barkhof, Ferdy Cayami, Wessel N van Wieringen, Petra J W Pouwels, Marjo S van der Knaap, Geneviève Bernard, Nicole I Wolf
4H (hypomyelination, hypodontia and hypogonadotropic hypogonadism) leukodystrophy (4H) is an autosomal recessive hypomyelinating white matter (WM) disorder with neurologic, dental, and endocrine abnormalities. The aim of this study was to develop and validate a magnetic resonance imaging (MRI) scoring system for 4H. A scoring system (0-54) was developed to quantify hypomyelination and atrophy of different brain regions. Pons diameter and bicaudate ratio were included as measures of cerebral and brainstem atrophy, and reference values were determined using controls...
March 1, 2017: Neuropediatrics
https://www.readbyqxmd.com/read/28220267/chimpanzee-down-syndrome-a-case-study-of-trisomy-22-in-a-captive-chimpanzee
#5
Satoshi Hirata, Hirohisa Hirai, Etsuko Nogami, Naruki Morimura, Toshifumi Udono
We report a case of chimpanzee trisomy 22 in a captive-born female. Because chromosome 22 in great apes is homologous to human chromosome 21, the present case is analogous to human trisomy 21, also called Down syndrome. The chimpanzee in the present case experienced retarded growth; infantile cataract and vision problems, including nystagmus, strabismus, and keratoconus; congenital atrial septal defect; and hypodontia. All of these symptoms are common in human Down syndrome. This case was the second reported case of trisomy 22 in the chimpanzee...
February 21, 2017: Primates; Journal of Primatology
https://www.readbyqxmd.com/read/28207178/dental-development-in-down-syndrome-and-healthy-children-a-comparative-study-using-the-demirjian-method
#6
M S van der Linden, S Vucic, D J F van Marrewijk, E M Ongkosuwito
OBJECTIVE: In children with Down syndrome, the timing of dental eruption is important for orthodontics treatment planning. Aim of this study was to determine whether tooth eruption and development of the dentition in children with Down syndrome are impaired. MATERIAL AND METHODS: Dental development was scored on orthopantomograms (OPTs) of 95 children with Down syndrome. The dental age was determined at the left mandibular side according to the Demirjian method and by converting the assigned scores to the dental maturity score...
February 16, 2017: Orthodontics & Craniofacial Research
https://www.readbyqxmd.com/read/28155232/pax9-gene-mutations-and-tooth-agenesis-a-review
#7
REVIEW
Ondřej Bonczek, Vladimir J Balcar, Omar Šerý
Paired box 9 (PAX9) is one of the best known transcription factors involved in the development of human dentition. Mutations in PAX9 gene could, therefore, seriously influence the number, position and morphology of the teeth in an affected individual. To date, over 50 mutations in the gene have been reported as associated with various types of dental agenesis (congenitally missing teeth, CMT) and other inherited dental defects or variations. The most common consequence of PAX9 gene mutation is the autosomal-dominant isolated (non-syndromic) oligodontia or hypodontia...
February 2, 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
#8
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/28118512/prosthodontic-rehabilitation-for-a-patient-with-down-syndrome-a-clinical-report
#9
Nasser M Alqahtani, Hussain D Alsayed, John A Levon, David T Brown
Patients with Down syndrome can present with a variety of oral manifestations such as hypodontia, periodontal disease, premature tooth loss, reduced salivary flow, crowding of teeth in both arches, and decreased occlusal vertical dimension. The intellectual ability of people with Down syndrome varies widely. They present with a mild-to-moderate intellectual disability that restricts their ability to communicate and adjust to their environment, which can add complexity in the overall dental treatment. There is little information in the literature regarding the prosthodontic rehabilitation for patients with Down syndrome in combination with dental implant placement...
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
#10
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/28097853/-clinical-and-molecular-study-in-a-family-with-autosomal-dominant-hypohidrotic-ectodermal-dysplasia
#11
Michele Callea, Francisco Cammarata-Scalisi, Colin E Willoughby, Sabrina R Giglio, Ilaria Sani, Sara Bargiacchi, Giovanna Traficante, Emanuele Bellacchio, Gianluca Tadini, Izzet Yavuz, Angela Galeotti, Gabriella Clarich
Hypohidrotic ectodermal dysplasia (HED) is a rare disease characterized by deficiency in development of structure derived from the ectoderm and is caused by mutations in the genes EDA, EDAR, or EDARADD. Phenotypes caused by mutations in these three may exhibit similar clinical features, explained by a common signaling pathway. Mutations in EDA gene cause X linked HED, which is the most common form. Mutations in EDAR and EDARADD genes cause autosomal dominant and recessive form of HED. The most striking clinical findings in HED are hypodontia, hypotrichosis and hypohidrosis that can lead to episodes of hyperthermia...
February 1, 2017: Archivos Argentinos de Pediatría
https://www.readbyqxmd.com/read/28091449/crouzon-syndrome-with-multiple-supernumerary-teeth
#12
G S Torun, A Akbulut
Crouzon syndrome (CS) is an autosomal dominant disorder characterized by craniofacial deformities caused by the early closure of cranial sutures. It is diagnosed by the presence of a flat sphenoid bone, protrusion of eyeballs (exophthalmos), and midfacial hypoplasia. Although hypodontia is usually present in cases with CS, supernumerary teeth are rarely seen. A 16-year-old male patient with CS was referred to our clinic. He had a high forehead, beaked nose, hypertelorism, palpebral ptosis, and asymmetrical orbits...
February 2017: Nigerian Journal of Clinical Practice
https://www.readbyqxmd.com/read/28040065/effects-of-pax9-and-msx1-gene-variants-to-hypodontia-tooth-size-and-the-type-of-congenitally-missing-teeth
#13
D Kirac, F Eraydin, T Avcilar, K Ulucan, F Özdemir, A I Guney, E Ç Kaspar, E Keshi, T Isbir
ooth agenesis, affecting up to 20% of human population, is one of the most common congenital disorder. The most frequent form of tooth agenesis is known as hypodontia, which is characterized by the absence of one to five permanent teeth excluding third molars. It was considered that hypodontia is especially related with gene mutations which play role in tooth formation. Additionally mutations in PAX9 and/or MSX1 have been identified as the defects responsible for missing permanent molars and second premolars...
November 30, 2016: Cellular and Molecular Biology
https://www.readbyqxmd.com/read/28027172/an-uncommon-occurrence-of-three-fourth-molars-concomitant-to-hypodontia-in-a-nonsyndromic-patient
#14
Ligia Buloto Schmitd, Agnes Assao, Gabriel Ramalho-Ferreira, Leonardo Perez Faverani, Denise Tostes Oliveira
Bilaterally mandibular and maxillary fourth molars, concomitant to hypodontia, are uncommon. These dental anomalies, called hypohyperdontia, are rare and etiology is not well defined. Several complications may occur as a consequence of supernumerary teeth, such as teeth impaction, resorption of adjacent teeth, and development of cysts and tumors. The authors present an uncommon occurrence of three-fourth molars concomitant to hypodontia and dentigerous cyst associated with impacted mandibular second and third molars in a nonsyndromic patient...
March 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/27994418/a-retrospective-cross-sectional-study-on-the-prevalence-of-hypodontia-in-a-target-population-of-al-jouf-province-saudi-arabia
#15
Arbaz Sajjad, Samia Subhani Sajjad, Nadeem Husain, Ahmed Maashi Al-Enezi
AIM: The purpose of this retrospective study was to determine the prevalence of hypodontia and to ascertain the need of interdisciplinary treatment for ensuing esthetic and functional problems in a target population of Al-Jouf Province, Saudi Arabia. SUBJECTS AND METHODS: Using a dental administration software tool, a total of 1267 patients who presented to the outpatient clinics of the Orthodontic and Prosthodontic Departments between March 2015 and January 2016 were identified...
October 2016: Contemporary Clinical Dentistry
https://www.readbyqxmd.com/read/27957258/prevalence-and-distribution-of-selected-dental-anomalies-among-saudi-children-in-abha-saudi-arabia
#16
Syed M Yassin
BACKGROUND: Dental anomalies are not an unusual finding in routine dental examination. The effect of dental anomalies can lead to functional, esthetic and occlusal problems. The Purpose of the study was to determine the prevalence and distribution of selected developmental dental anomalies in Saudi children. MATERIAL AND METHODS: The study was based on clinical examination and Panoramic radiographs of children who visited the Pediatric dentistry clinics at King Khalid University College of Dentistry, Saudi Arabia...
December 2016: Journal of Clinical and Experimental Dentistry
https://www.readbyqxmd.com/read/27951410/non-syndromic-severe-hypodontia-caused-by-a-novel-frameshift-insertion-mutation-in-the-homeobox-of-the-msx1-gene
#17
Mushriq F Abid, M A Simpson, Christos Petridis, M T Cobourne, P T Sharpe
OBJECTIVE: Inherited congenital anomalies in tooth number, particularly hypodontia are relatively common. Although substantial progress has been made that permits a better understanding of the causes of tooth agenesis, overall knowledge of the phenotype:genotype correlations in this anomaly are still lacking. The aim in this study was to identify the causal gene mutation(s) in a family of two sisters with severe hypodontia (oligodontia) including 2nd premolars and 1st and 3rd molars, using whole exome sequencing (WES)...
December 6, 2016: Archives of Oral Biology
https://www.readbyqxmd.com/read/27933446/permanent-tooth-agenesis-in-non-syndromic-robin-sequence-and-cleft-palate-prevalence-and-patterns
#18
Anneline de Smalen, Daan P F van Nunen, Ruurd R Hermus, Edwin M Ongkosuwito, Arjen J van Wijk, J Peter W Don Griot, Corstiaan C Breugem, Gem J C Kramer
OBJECTIVES: Partial tooth agenesis is frequently observed in Robin sequence. Tooth anomalies are increasingly considered as an extended phenotype of the cleft palate population. The study objective was to compare the prevalence and patterns of tooth agenesis in a group of patients with non-syndromic Robin sequence (ns-RS) and a group with non-syndromic cleft palate (ns-CP). MATERIALS AND METHODS: The panoramic radiographs of 115 ns-RS and 191 ns-CP patients were assessed for agenesis of the permanent dentition (excluding third molars) and the patterns recorded using the Tooth Agenesis Code...
December 9, 2016: Clinical Oral Investigations
https://www.readbyqxmd.com/read/27895972/genetic-basis-of-nonsyndromic-and-syndromic-tooth-agenesis
#19
REVIEW
Xiaoqian Ye, Ali B Attaie
Human dentition development is a long and complex process which involves a series of reciprocal and sequential interactions between the embryonic stomodeal epithelium and the underlying neural crest-derived mesenchyme. Despite environment disturbances, tooth development is predominantly genetically controlled. To date, more than 200 genes have been identified in tooth development. These genes implied in various signaling pathways such as the bone morphogenetic protein, fibroblast growth factor, sonic hedgehog homolog, ectodysplasin A, wingless-type MMTV integration site family (Wnt), and transform growth factor pathways...
December 2016: Journal of Pediatric Genetics
https://www.readbyqxmd.com/read/27895346/association-between-hypodontia-and-angles-malocclusion
#20
Batool Ali, Syed Sheeraz Hussain
This study was planned to determine the prevalence of hypodontia in permanent dentition and to test whether an association was present between hypodontia and Angle's malocclusion. The retrospective study was conducted at a tertiary care hospital, Karachi, and comprised record of all patients visiting the orthodontic clinics of the hospital from 2005 to 2015. Orthodontic records of 790(79%) subjects, including 189(23.9%) males and 601(76.1%) females, were reviewed. Their mean age was 17 ± 5.06 years. A tooth was considered missing if no evidence of tooth germ was observed on orthopantomograms and dental casts...
October 2016: JPMA. the Journal of the Pakistan Medical Association
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