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1.
Clin Oral Investig ; 28(5): 297, 2024 May 03.
Artigo em Inglês | MEDLINE | ID: mdl-38700604

RESUMO

OBJECTIVE: This cross-sectional study investigated the association between fungiform papillae (FP) numbers and tooth number anomalies in children, considering variables related to hypodontia and hyperdontia. The aim was to explore this association while adjusting for age and sex differences. MATERIALS AND METHODS: A total of 144 children (aged 8-10) were categorized into hypodontia (n = 48), hyperdontia (n = 48), and control groups (n = 48). Clinical and radiographic diagnoses were used to classify tooth number anomalies. Hypodontia was categorized by number and location, while hyperdontia was categorized by number, shape, and location. FP were assessed using the Denver Papillae Protocol. Data analyses were performed using NCSS software, with p < 0.05 considered statistically significant. RESULTS: The hypodontia group (22.5 ± 8.4) exhibited significantly lower FP than the control group (30.4 ± 9.2) and the hyperdontia group (27.9 ± 7.8) (p < 0.0005, p = 0.003, respectively). No significant difference existed between the hyperdontia and control groups. FP numbers in hypodontia subgroups showed no significant differences based on teeth agenesis numbers or locations. Similarly, hyperdontia subgroup analyses revealed no significant differences in FP numbers based on supernumerary teeth shapes (supplemental, conical, tuberculoid, paramolar) or the numbers of supernumerary teeth. CONCLUSIONS: The lower FP numbers in children with hypodontia suggested an association between teeth and FP number. However, the non-significant difference in FP numbers with hyperdontia underscored the complexity of tooth development, warranting further investigations. CLINICAL RELEVANCE: Children with hypodontia may exhibit distinct FP numbers compared to those without tooth number anomalies.


Assuntos
Anodontia , Humanos , Feminino , Estudos Transversais , Masculino , Criança , Anodontia/epidemiologia , Anodontia/diagnóstico por imagem , Dente Supranumerário/diagnóstico por imagem , Dente Supranumerário/epidemiologia
2.
Orthod Craniofac Res ; 26(3): 320-330, 2023 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-36620911

RESUMO

We aimed to characterize the genetic basis and craniofacial and dental features of Finnish patients with Axenfeld-Rieger syndrome (ARS). Mutational analyses of seven patients in five families were performed by sequencing or comparative genomic hybridization. Phenotypic analysis was based on both clinical and radiographic examinations, as well as on medical data. Lateral cephalometric radiographs of five patients were analysed using Viewbox 3.1-Cephalometric Software. The cephalometric values were compared to Finnish population-standard values of the same age and gender. Two frameshift mutations and three whole gene deletions were detected in five families. Class III skeletal relationship with retrognathic maxilla and mildly retrognathic mandible were detected in all five patients studied. Significant differences compared with the control values were in SNA (P = .0014), ANB (P = .0043) and SNB angles (P = .013). Five patients had anterior crossbite. Six patients showed tooth agenesis. The average number of missing teeth (third molars excluded) was 9 (range 0-15). The tooth agenesis rate was 52% in maxilla and 26% in mandible. Maxillary central and lateral permanent incisors were most often missing (rate 71% equally) while no one lacked canines or first molars in mandible. Two patients had a supernumerary mandibular permanent incisor. Six patients had either taurodontic and/or single-rooted molars. Our results suggest that class III skeletal relationship with maxillary and mandibular retrognathism, anterior crossbite, maxillary incisor agenesis and taurodontic, even pyramidal, roots are common determinants of ARS caused by PITX2 mutations.


Assuntos
Anodontia , Má Oclusão , Humanos , Hibridização Genômica Comparativa , Anodontia/diagnóstico por imagem , Anodontia/genética , Mutação , Maxila
3.
Cleft Palate Craniofac J ; 60(2): 243-248, 2023 02.
Artigo em Inglês | MEDLINE | ID: mdl-34787023

RESUMO

Van der Woude syndrome (VWS) is a rare syndrome of genetic etiology, commonly occasioned by mutations in the IRF6 gene and that causes disorders in craniofacial development. VWS is characterized by the presence of paramedian fistulas in the lower lip and cleft lip and / or cleft palate. Although some dental phenotypes have been reported in this syndrome, multiple and rare hypodontias were not described. Through this case report, we present a case of Van der Woude Syndrome (VWS) with rare and multiple hypodontia in which clinical data and radiographic exams were evaluated. The patient presented hypodontia of eight permanent teeth (lateral incisors, second premolars and second molars). So, when the dentist recognizes multiple and/or rare hypodontias, for an accurate diagnosis, detailed examination of the lower lip is indicated, as well as a survey of the family history and referral for genetic counseling, since the syndrome presents high penetrance. The patient is expected to be rehabilitated to have a good quality of life. Rehabilitation in these cases requires alveolar bone graft, orthodontics and prosthesis to replace missing teeth.


Assuntos
Anodontia , Fenda Labial , Fissura Palatina , Humanos , Fenda Labial/genética , Fissura Palatina/genética , Anodontia/diagnóstico por imagem , Anodontia/genética , Qualidade de Vida , Fatores Reguladores de Interferon/genética
4.
Am J Orthod Dentofacial Orthop ; 163(2): 233-242, 2023 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-36400643

RESUMO

INTRODUCTION: The alveolar bone is an essential consideration when planning treatment for patients with tooth agenesis. This study evaluated the changes in the alveolar bone and adjacent teeth in patients with a congenitally missing mandibular lateral incisor using cone-beam computed tomography. METHODS: Twenty-three nonorthodontically treated adults with a unilateral congenitally missing mandibular lateral incisor were the missing group (M group). The control group (C group) consisted of 23 nonorthodontically treated adults with normal occlusion and no missing teeth. First, the difference in the arch perimeter between the groups was compared at the cementoenamel junction (CEJ) level and the root apex (RA) level. Next, the root divergence of the anterior teeth in the M group was observed. Finally, the alveolar bone thickness ratio was compared between the M and C groups at different vertical levels. RESULTS: The arch perimeter was significantly decreased in the M group at the CEJ and RA levels (P <0.05). Root divergence was observed adjacent to the missing site (P <0.0001). There were a reduction in total and cancellous cortical alveolar bone thickness (ABT) ratios at the 3-, 6-, and 9-mm positions (P <0.05). The buccal cortical ABT ratios decreased at the 3-and 6-mm positions. The lingual ABT ratio increased at the 9-mm position (P <0.05). CONCLUSIONS: The congenitally missing mandibular lateral incisor caused a reduction in the arch perimeter in the CEJ area and the RA area. The root divergences were observed in the teeth adjacent to the missing areas. A significant decrease in the buccal cortical bone and cancellous bone was observed in the missing area.


Assuntos
Anodontia , Incisivo , Adulto , Humanos , Incisivo/diagnóstico por imagem , Incisivo/anormalidades , Raiz Dentária , Anodontia/diagnóstico por imagem , Anodontia/terapia , Colo do Dente , Tomografia Computadorizada de Feixe Cônico , Maxila
5.
Am J Orthod Dentofacial Orthop ; 164(6): 805-812, 2023 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-37486279

RESUMO

INTRODUCTION: Oligodontia is a serious developmental dental anomaly that requires long-term multidisciplinary treatment, but its clinical characteristics are not well understood because it is rare. This study evaluated the mesiodistal angulation and developmental stages of unerupted mandibular second premolars (MnP2s) in orthodontic patients with nonsyndromic oligodontia. METHODS: Thirty-seven patients with oligodontia with at least 1 unerupted MnP2 in Demirjian's developmental stages between D and G were selected. Age- and sex-matched patients without tooth agenesis, excluding third molars, were selected as the control group. Mesiodistal angulation between the long axis of the available MnP2 and the mandibular plane was measured on panoramic radiographs. RESULTS: The MnP2 was significantly more distally angulated in the oligodontia group than in the control group. The developmental stage of the MnP2 in the oligodontia group was significantly delayed (1.04 ± 0.26 years; 95% confidence interval, 0.53-1.55 years). No correlation between the mesiodistal angulation and the developmental stage of the MnP2 was found in both groups. CONCLUSIONS: Significant distal angulation and delayed developmental stages of MnP2s were found in patients with nonsyndromic oligodontia compared with age- and sex-matched patients without agenesis of permanent teeth, excluding third molars. However, no significant correlation was found between them. Regardless of the severity of the distal angulation of MnP2, observing delayed dental development in each patient is important.


Assuntos
Anodontia , Humanos , Dente Pré-Molar/diagnóstico por imagem , Dente Pré-Molar/anormalidades , Anodontia/diagnóstico por imagem , Dente Serotino/diagnóstico por imagem , Radiografia Panorâmica , Mandíbula/diagnóstico por imagem
6.
BMC Oral Health ; 23(1): 776, 2023 10 21.
Artigo em Inglês | MEDLINE | ID: mdl-37865729

RESUMO

BACKGROUND: The aim of this study was to determine whether there is any association between molar incisor hypomineralization and developmental dental anomalies. METHODS: Two pediatric dentists evaluated panoramic radiographs of 429 children aged 8-14 years with molar incisor hypomineralization (study group) and 437 children without molar incisor hypomineralization (control group) in terms of developmental dental anomalies. Twelve different developmental dental anomalies were categorized into four types: size (microdontia, macrodontia); position (ectopic eruption of maxillary permanent first molars, infraocclusion of primary molars); shape (fusion, gemination, dilaceration, taurodontism, peg-shaped maxillary lateral incisors); and number (hypodontia, oligodontia, hyperdontia) anomalies. RESULTS: No significant difference was observed in the frequencies of developmental dental anomalies between the study and control groups in total, females, and males (p > 0.05). A statistically significant difference was found between the distribution of developmental size, position, shape, and number anomalies between the study and control groups (p = 0.024). The most common anomaly in both groups was hypodontia (6.3% and 5.9%, respectively). There was a significant difference between the study and control groups in terms of subtypes of shape anomaly in all children and females (p = 0.045 and p = 0.05, respectively). CONCLUSIONS: While a significant difference was observed between the distributions of types of developmental dental anomalies between individuals with and without molar incisor hypomineralization, there was no difference in terms of the frequency of developmental dental anomalies.


Assuntos
Anodontia , Hipoplasia do Esmalte Dentário , Hipomineralização Molar , Anormalidades Dentárias , Dente Supranumerário , Masculino , Criança , Feminino , Humanos , Anodontia/diagnóstico por imagem , Anodontia/epidemiologia , Estudos de Casos e Controles , Anormalidades Dentárias/complicações , Anormalidades Dentárias/diagnóstico por imagem , Anormalidades Dentárias/epidemiologia , Dente Molar/diagnóstico por imagem , Dente Molar/anormalidades , Prevalência , Hipoplasia do Esmalte Dentário/complicações , Hipoplasia do Esmalte Dentário/epidemiologia
7.
Hum Mol Genet ; 29(11): 1900-1921, 2020 07 21.
Artigo em Inglês | MEDLINE | ID: mdl-32196547

RESUMO

CTNND1 encodes the p120-catenin (p120) protein, which has a wide range of functions, including the maintenance of cell-cell junctions, regulation of the epithelial-mesenchymal transition and transcriptional signalling. Due to advances in next-generation sequencing, CTNND1 has been implicated in human diseases including cleft palate and blepharocheilodontic (BCD) syndrome albeit only recently. In this study, we identify eight novel protein-truncating variants, six de novo, in 13 participants from nine families presenting with craniofacial dysmorphisms including cleft palate and hypodontia, as well as congenital cardiac anomalies, limb dysmorphologies and neurodevelopmental disorders. Using conditional deletions in mice as well as CRISPR/Cas9 approaches to target CTNND1 in Xenopus, we identified a subset of phenotypes that can be linked to p120-catenin in epithelial integrity and turnover, and additional phenotypes that suggest mesenchymal roles of CTNND1. We propose that CTNND1 variants have a wider developmental role than previously described and that variations in this gene underlie not only cleft palate and BCD but may be expanded to a broader velocardiofacial-like syndrome.


Assuntos
Cateninas/genética , Fenda Labial/genética , Fissura Palatina/genética , Anormalidades Craniofaciais/genética , Ectrópio/genética , Cardiopatias Congênitas/genética , Anormalidades Dentárias/genética , Adolescente , Adulto , Animais , Anodontia/diagnóstico por imagem , Anodontia/genética , Anodontia/fisiopatologia , Criança , Pré-Escolar , Fenda Labial/diagnóstico por imagem , Fenda Labial/fisiopatologia , Fissura Palatina/diagnóstico por imagem , Fissura Palatina/fisiopatologia , Anormalidades Craniofaciais/diagnóstico por imagem , Anormalidades Craniofaciais/fisiopatologia , Modelos Animais de Doenças , Ectrópio/diagnóstico por imagem , Ectrópio/fisiopatologia , Feminino , Predisposição Genética para Doença , Cardiopatias Congênitas/diagnóstico por imagem , Cardiopatias Congênitas/fisiopatologia , Humanos , Masculino , Camundongos , Anormalidades Dentárias/diagnóstico por imagem , Anormalidades Dentárias/fisiopatologia , Xenopus , Adulto Jovem , delta Catenina
8.
Orthod Craniofac Res ; 25(3): 409-415, 2022 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-34837458

RESUMO

OBJECTIVE: The study aimed to investigate the effects of hypodontia on the sagittal and vertical dimensions of the jaws, dentition and the related soft tissue. MATERIALS AND METHODS: The hypodontia group included 111 patients whose growth was completed with one or more congenitally missing teeth (CMT). Sixty additional patients with skeletal and dental class I relationship, without CMT, and who completed growth, were included as the control group. The hypodontia group was divided into three subgroups according to the intermaxillary (maxillary or mandibular) location, intramaxillary (anterior or posterior) location and the severity of hypodontia (mild: 1-2 CMT or moderate: 3-6 CMT). Twenty-three measurements were performed on lateral cephalograms of the patients. The one-way and Kruskal-Wallis Analysis of Variance tests were used for the statistical analysis. The false discovery-rate analysis was applied for the multiple comparison adjustment. RESULTS: No significant difference was found in the skeletal measurements between all hypodontia subgroups and the control (P > .05). Upper incisors were found to be retroclined in the anterior hypodontia group. The upper lip was found to be protruded in the mandibulary hypodontia group compared to the control (P < .05). CONCLUSION: The mild-to-moderate hypodontia did not produce a significant skeletal effect. However, hypodontia can affect the incisors, especially when CMT is in the anterior region. Besides, the effects of severe hypodontia could not be evaluated due to the insufficient number of oligodontia patients.


Assuntos
Anodontia , Anodontia/diagnóstico por imagem , Cefalometria/métodos , Humanos , Incisivo , Mandíbula , Dimensão Vertical
9.
Clin Oral Investig ; 26(9): 5823-5832, 2022 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-35618960

RESUMO

OBJECTIVES: The study objective was to evaluate the tooth agenesis in German orthodontic patients with non-syndromic cleft lip and/or palate and Robin sequence compared to a control group without craniofacial disorder. MATERIALS/METHODS: A total of 108 panoramic radiographs were examined using the binary system of Tooth Agenesis Code (TAC) (excluding the third molar). Patients were divided into the craniofacial disorder group 1 (n = 43) and the healthy control group 2 (n = 65). Parameters such as skeletal class malformation, sex, localization of the cleft, craniofacial disorder, and interobserver reliability were assessed. RESULTS: Permanent tooth agenesis was observed in 44% of group 1 and 14% in group 2 with a statistically significant higher prevalence (p = 0.00162 (χ2)). Fourteen different TAC patterns were observed in group 1, ten of these occurring only once in separate patients. The distribution of the TAC codes in group 2 showed nine different possibilities of TAC code patterns; seven TACs were unique. In group 1, the most frequently absent teeth were the maxillary lateral incisor of the left side (30%); in group 2, the second premolar of the lower jaw on the right side (9%). Male patients with craniofacial disorder showed a higher percentage of tooth agenesis than female. CONCLUSION: The data presented here shows a statistically significant higher prevalence of tooth agenesis in German patients with non-syndromic craniofacial disorder. CLINICAL RELEVANCE: Radiographic evaluation enables the diagnosis of tooth agenesis. Recognizing early on the higher prevalence of tooth agenesis in patients exhibiting a craniofacial disorder is an important issue when developing long-term and comprehensive interdisciplinary treatment.


Assuntos
Anodontia , Fenda Labial , Fissura Palatina , Anodontia/diagnóstico por imagem , Anodontia/epidemiologia , Fenda Labial/epidemiologia , Fissura Palatina/diagnóstico por imagem , Fissura Palatina/epidemiologia , Feminino , Humanos , Masculino , Prevalência , Radiografia Panorâmica , Reprodutibilidade dos Testes , Estudos Retrospectivos
10.
Odontology ; 110(1): 183-192, 2022 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-34236541

RESUMO

Agenesis of two or more consecutive adjacent permanent teeth (consecutive tooth agenesis, CTA) is a serious manifestation of oligodontia requiring long-term, multi-disciplinary treatment. Therefore, the present study investigated the characteristics of the CTA pattern in orthodontic patients with non-syndromic oligodontia. Using panoramic radiographs, the number of agenetic permanent teeth excluding third molars in non-syndromic orthodontic patients was evaluated, and patients with six or more agenetic teeth (oligodontia group, n = 97) and with one to five agenetic teeth (hypodontia group, n = 107) were selected. The numbers of CTA including third molars in each quadrant and in each patient were compared between the groups. Each quadrant with CTA of patients was categorized into one of the following four types: (I) involves anterior teeth only; (II) involves posterior teeth only; (IIIA) includes anterior and posterior teeth; and (IIIB) separate in the anterior and posterior teeth. CTA in at least one quadrant was found in 91.8 and 4.7% of patients in the oligodontia and hypodontia groups, respectively. The highest frequency CTA patterns included agenesis of the first and second premolars and of the second and third molars in the oligodontia and hypodontia groups, respectively. In the oligodontia group, type IIIA was significantly more frequent in the maxillary than in the mandibular quadrant. Most oligodontia patients who visit orthodontic clinics have CTA. A rare but severe CTA pattern that continues from the anterior to posterior segments is more frequent in the maxillary than in the mandibular quadrant.


Assuntos
Anodontia , Anodontia/diagnóstico por imagem , Dente Pré-Molar/diagnóstico por imagem , Dentição Permanente , Humanos , Mandíbula , Prevalência , Radiografia Panorâmica
11.
Cleft Palate Craniofac J ; 59(5): 603-608, 2022 05.
Artigo em Inglês | MEDLINE | ID: mdl-34018409

RESUMO

OBJECTIVE: To assess the prevalence and patterns of hypodontia in nonsyndromic Pierre Robin sequence (PRS) and compare it with hypodontia in nonsyndromic isolated cleft palates and isolated cleft lips. DESIGN: Retrospective cohort study. SETTING: Alder Hey Children's Hospital, United Kingdom. PATIENTS: Patients with nonsyndromic PRS (group 1), isolated cleft palate (group 2), and isolated cleft lip (group 3). MAIN OUTCOME MEASURES: Hypodontia in the permanent dentition assessed from orthopantomographs. RESULTS: A total of 154 patients were included. Group 1 had the highest incidence of hypodontia with 47% having at least one tooth congenitally absent. Groups 2 and 3 had reduced rates of hypodontia with 27% and 19% of the groups missing teeth, respectively; 93% of cases of hypodontia in group 1 involved the absence of at least one second premolar. Of these patients, there was found to be bilateral agenesis of second premolars in 50% of cases. CONCLUSIONS: Patients with PRS and cleft palates are more likely to have hypodontia than those with isolated cleft palates or unilateral cleft lips. Patients with PRS have more severe hypodontia than those with isolated cleft palates or unilateral cleft lips. Bilateral agenesis of lower second premolars is a commonly seen pattern among patients with PRS. In this large UK study, a similar prevalence and pattern of hypodontia to other nonsyndromic PRS populations worldwide has been demonstrated.


Assuntos
Anodontia , Fenda Labial , Fissura Palatina , Síndrome de Pierre Robin , Anodontia/diagnóstico por imagem , Anodontia/epidemiologia , Anodontia/etiologia , Dente Pré-Molar/anormalidades , Criança , Fenda Labial/complicações , Fenda Labial/diagnóstico por imagem , Fenda Labial/epidemiologia , Fissura Palatina/complicações , Fissura Palatina/diagnóstico por imagem , Fissura Palatina/epidemiologia , Humanos , Síndrome de Pierre Robin/complicações , Síndrome de Pierre Robin/diagnóstico por imagem , Síndrome de Pierre Robin/epidemiologia , Estudos Retrospectivos
12.
BMC Oral Health ; 22(1): 468, 2022 11 05.
Artigo em Inglês | MEDLINE | ID: mdl-36335341

RESUMO

BACKGROUND: The association between dental anomalies has been studied, giving rise to the concept of Dental Anomaly Pattern (DAP). Tooth agenesis has been associated with alterations such as molar infracclusion, taurodontism and delayed dental development. The aim of this study was to evaluate the dental development pattern in patients with non-syndromic dental agenesis, in comparison with a control group. METHODS: Dental and chronological age was analysed in a sample size of 204 orthopantomographs divided into a study group (n = 104) and a control group (n = 100) with the Demirjian Method. Intra and intergroup differences in chronological and dental age, and the correlation between them were calculated by statistical analysis with a 95% confidence level (p < 0.05). RESULTS: Dental age exceeded chronological age both in the control group and in the study group. Statistically significant differences (p = 0.004) were found when comparing the difference between chronological and dental age in the study (-0.16 ± 1.12) and control group (-0.58 ± 0.90). Regarding sex and age intergroup differences, the results were only statistically significant in the girls' group (p = 0.017), and the age over 8 years old (p < 0.05). There were no significant differences in tooth development depending on the number of missing teeth or the affected tooth group, but there was a delay in the development of the homologous tooth contralateral to the absent one in 14.9% of patients. CONCLUSIONS: The difference between chronological and dental age in permanent dentition is significantly lower in Spanish children with non-syndromic agenesis compared to a control group, presenting a lower dental age than chronological age than children without non-syndromic agenesis.


Assuntos
Anodontia , Anormalidades Dentárias , Dente , Criança , Feminino , Humanos , Anodontia/diagnóstico por imagem , Anodontia/epidemiologia , Dentição Permanente , Radiografia Panorâmica , Anormalidades Dentárias/diagnóstico por imagem , Anormalidades Dentárias/epidemiologia , Odontopediatria
13.
J Pak Med Assoc ; 72(11): 2305-2307, 2022 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-37013309

RESUMO

Goldenhar syndrome (GS) is a rare congenital disorder. It arises from the first pharyngeal pouch, first branchial cleft, first and second branchial arches, and primordia of the temporal bone. It mainly involves abnormalities in the ear, mandibular, and maxillary arches, and is associated with variable clinical features such as skeletal, cardiac, and renal systems. The presence of extra teeth in the dental arch is called supernumerary teeth, and hypodontia refers to congenitally missing teeth. The occurrence of both these anomalies in the same patient is called concomitant hypohyperdontia. However, the GS itself is not very rare, though the presence of concomitant hypohyperdontia has not been reported. The purpose of the present case report is to describe the first case from Saudi Arabia with a characteristic combination of rare findings in a seven-year-old child with comprehensive oral rehabilitation.


Assuntos
Anodontia , Síndrome de Goldenhar , Dente Supranumerário , Humanos , Criança , Síndrome de Goldenhar/complicações , Síndrome de Goldenhar/diagnóstico , Anodontia/complicações , Anodontia/diagnóstico por imagem , Mandíbula , Dente Supranumerário/complicações , Dente Supranumerário/diagnóstico por imagem , Dente Supranumerário/cirurgia , Maxila
14.
Epidemiol Prev ; 46(5-6): 376-381, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-36628642

RESUMO

BACKGROUND: dental anomalies are a group of disorders characterized by alterations in tooth number, shape, size, structure, development, and timing of eruption due to genetic and environmental factors. OBJECTIVES: to identify the prevalence of dental anomalies in a large sample of non-orthodontic subjects. DESIGN: a retrospective chart review was conducted based on digital panoramic radiographs by two examiners who assessed the presence of displacement of the maxillary canines (DMC), impacted teeth (IT), tooth agenesis (TA), supernumerary/supplementary teeth (ST), and tooth transpositions (TT). SETTING AND PARTICIPANTS: radiographs of subjects aged between 8 and 18 years were analysed. A chi2 test was employed to assess possible associations between the number and type of dental anomalies and patients' gender. When an association was present, a binary logistic regression was conducted to calculate the odds ratio between the variables. The significance level was set at p<0.05. RESULTS: a total of 1,124 subjects (25.7%) showed at least one dental anomaly. DMC (12.1%) and IT (12%) were the most frequent dental anomalies. The most represented impacted teeth were the upper canine (9.2%) and the upper central incisor (1.3%). TA was detected in 296 radiographs (6.8%), with 134 showing two or more TA. The prevalence of ST and TT in the total sample was 2.2% and 0.7%, respectively. Associations were found between ST and IT, between TA and DMC, and between TA and IT. CONCLUSIONS: the results obtained encourage the radiographic investigation of dental anomalies at an early stage.


Assuntos
Anodontia , Anormalidades Dentárias , Dente Impactado , Dente Supranumerário , Humanos , Estudos Retrospectivos , Dente Impactado/diagnóstico por imagem , Dente Impactado/epidemiologia , Prevalência , Itália/epidemiologia , Anormalidades Dentárias/diagnóstico por imagem , Anormalidades Dentárias/epidemiologia , Anodontia/diagnóstico por imagem , Anodontia/epidemiologia , Dente Supranumerário/epidemiologia
15.
Clin Genet ; 99(5): 713-718, 2021 05.
Artigo em Inglês | MEDLINE | ID: mdl-33491183

RESUMO

POLR3A encodes the largest subunit of the DNA-dependent RNA polymerase III. Pathogenic variants in this gene are associated with dysregulation of tRNA production and other non-coding RNAs. POLR3A-related disorders include variable phenotypes. The genotype-phenotype correlation is still unclear. Phenotypic analysis and exome sequencing were performed in four affected siblings diagnosed clinically with hereditary spastic ataxia, two healthy siblings and their unaffected mother. All four affected siblings (ages 46-55) had similar clinical features of early childhood-onset hypodontia and adolescent-onset progressive spastic ataxia. None had progeria, gonadal dysfunction or dysmorphism. All affected individuals had biallelic POLR3A pathogenic variants composed by two cis-acting intronic splicing-altering variants, c.1909 + 22G > A and c.3337-11 T > C. The two healthy siblings had wild-type alleles. The mother and another unaffected sibling were heterozygous for the allele containing both variants. This is the first report addressing the clinical consequence associated with homozygosity for a unique pathogenic intronic allele in the POLR3A gene. This allele was previously reported in compound heterozygous combinations in patients with Wiedemann-Rautenstrauch syndrome, a severe progeroid POLR3A-associated phenotype. We show that homozygosity for this allele is associated with spastic ataxia with hypodontia, and not with progeroid features. These findings contribute to the characterization of genotype-phenotype correlation in POLR3A-related disorders.


Assuntos
Anodontia/genética , Deficiência Intelectual/genética , Íntrons/genética , Espasticidade Muscular/genética , Atrofia Óptica/genética , RNA Polimerase III/genética , Ataxias Espinocerebelares/genética , Alelos , Anodontia/complicações , Anodontia/diagnóstico por imagem , Anodontia/enzimologia , Análise Mutacional de DNA , Feminino , Mutação da Fase de Leitura , Humanos , Deficiência Intelectual/complicações , Deficiência Intelectual/diagnóstico por imagem , Deficiência Intelectual/enzimologia , Masculino , Pessoa de Meia-Idade , Espasticidade Muscular/complicações , Espasticidade Muscular/diagnóstico por imagem , Espasticidade Muscular/enzimologia , Atrofia Óptica/complicações , Atrofia Óptica/diagnóstico por imagem , Atrofia Óptica/enzimologia , Ataxias Espinocerebelares/complicações , Ataxias Espinocerebelares/diagnóstico por imagem , Ataxias Espinocerebelares/enzimologia
16.
Odontology ; 109(1): 201-209, 2021 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-32277302

RESUMO

The aim of this study was to reveal the correlations between bilateral agenesis of third molars (M3s) and skeletal morphology in Japanese male and female orthodontic patients. Sixty patients (30 males, 30 females), with bilateral agenesis of maxillary M3s and without agenesis of mandibular M3s (group U), and 60 patients (30 males, 30 females), with bilateral agenesis of mandibular M3s and without agenesis of maxillary M3s (group L), were selected as agenesis groups. Additionally, 60 patients (30 males, 30 females) with all four M3s were selected as the control group (group C). Patients in these three groups had no agenesis of teeth other than M3s. Lateral cephalograms of each patient were used to evaluate skeletal morphology of the maxilla and mandible. Two-way analysis of variance was used for statistical comparisons. Groups U and L had significantly smaller maxillary length and area than group C. Group U exhibited a significantly smaller lower facial height than group C. Males showed significantly larger maxillary length; total mandibular and mandibular body length; mandibular ramus height; SNB angle; maxillary area; and mandibular symphysis, corpus and ramus areas than females. Females had significantly larger lower facial height, gonial angle and ANB angle than males. Smaller maxillary length and area and lower facial height should be considered in planning orthodontic treatment for patients with bilateral agenesis of maxillary and mandibular M3s.


Assuntos
Anodontia , Dente Serotino , Anodontia/diagnóstico por imagem , Anodontia/epidemiologia , Cefalometria , Feminino , Humanos , Japão/epidemiologia , Masculino , Mandíbula/diagnóstico por imagem , Maxila/diagnóstico por imagem , Dente Serotino/diagnóstico por imagem
17.
Eur J Orthod ; 43(1): 25-28, 2021 01 29.
Artigo em Inglês | MEDLINE | ID: mdl-32006441

RESUMO

OBJECTIVES: To determine the prevalence and distribution of clinically missing permanent incisors, and the age at which they are detected, in school-aged children. METHODS: A total of 2573 children aged 4-13 underwent oral health screening on at least one occasion between 2001 and 2017. In order to define a threshold age, after which permanent incisor agenesis could be suspected clinically with reasonable certainty, children who had been seen for at least three consecutive years, with any clinically missing permanent incisor were selected (n = 19). The maximum age of detection among these children was chosen as the threshold age. Based on this, a total of 766 children at or above the threshold age were screened for a cross-sectional epidemiological survey. Chi-squared tests were used to compare the prevalence of clinically missing permanent incisors among boys and girls, comparing unilateral versus bilateral, and right- versus left-sided missing teeth. RESULTS: Roughly 2% of the sample presented with at least one clinically missing maxillary lateral incisor. This was bilateral in half of cases. Clinically missing mandibular incisors were found in 0.5% of children. Finally, the threshold age for clinical suspicion of maxillary lateral incisor agenesis was set at 11.5 years. Agenesis was confirmed in all of the children attending a follow-up radiographic visit. CONCLUSIONS: Approximately 1 in 50 children present with a clinically missing maxillary lateral incisor. The age at suspicion of maxillary lateral incisor agenesis can sometimes be several years after its expected eruption, perhaps due to significant variation in eruption times.


Assuntos
Anodontia , Incisivo , Anodontia/diagnóstico por imagem , Anodontia/epidemiologia , Criança , Pré-Escolar , Estudos Transversais , Feminino , Humanos , Masculino , Maxila , Prevalência , Erupção Dentária
18.
Eur J Orthod ; 43(4): 394-398, 2021 08 03.
Artigo em Inglês | MEDLINE | ID: mdl-33615332

RESUMO

BACKGROUND/OBJECTIVES: This retrospective study evaluated the prevalence of dental anomalies of number in different subphenotypes of isolated cleft palate. MATERIALS/METHODS: The sample comprised 26 individuals with submucous cleft palate (group S) and 68 individuals with complete cleft palate (group C) aged between 9 and 12 years from a single centre. Panoramic radiographs were evaluated regarding the presence of dental anomalies of number in permanent teeth. Intergroup comparison was performed using chi-square tests (P < 0.05). RESULTS: Tooth agenesis was found in 34.61 and 36.76 per cent of group S and group C, respectively. The most commonly missing teeth were the maxillary second premolar, maxillary lateral incisor, and mandibular second premolar. Supernumerary teeth were found in none and 1.47 per cent of the individuals with submucous and complete cleft palate, respectively. No statistically significant difference was found between groups for the frequency of tooth agenesis and supernumerary teeth. LIMITATIONS: Only dental anomalies of number were evaluated. CONCLUSIONS/IMPLICATIONS: Individuals with submucous and complete cleft palate showed similar prevalence for tooth agenesis and supernumerary teeth. Dental anomalies frequency seems not to be a discriminator for subphenotypes of cleft palate.


Assuntos
Anodontia , Fenda Labial , Fissura Palatina , Anormalidades Dentárias , Anodontia/diagnóstico por imagem , Anodontia/epidemiologia , Dente Pré-Molar , Criança , Fissura Palatina/epidemiologia , Humanos , Estudos Retrospectivos , Anormalidades Dentárias/diagnóstico por imagem , Anormalidades Dentárias/epidemiologia
19.
BMC Oral Health ; 21(1): 60, 2021 02 11.
Artigo em Inglês | MEDLINE | ID: mdl-33573652

RESUMO

BACKGROUND: The distribution of dental abnormalities among cleft patients concerning cleft type frequently poses ambiguity wherefore the aim of this study was to evaluate the prevalence of hypodontia and supernumerary teeth in an exemplary German cleft population dependent on the cleft type. METHODS: Radiographs and dental records of cleft patients, which had been treated and followed up in the Department of Oral and Maxillofacial Surgery, University Hospital Carl Gustav Carus Campus, Dresden, Germany (investigation period of 22 years) were evaluated concerning hypodontia and supernumerary teeth dependent on the cleft type. Out of 386 records, 108 patients met the inclusion criteria: non-syndromic cleft of the alveolus with or without palate (CL/P), at least one clear panoramic x-ray, sufficient dental records. Statistical analysis was performed using x-square and binominal test (p ≤ 0.05). RESULTS: Hypodontia was more frequent (54/50%) than supernumerary teeth (36/33.3%) and was more common in bilateral clefts of the lip and palate (BCLP) (70.1%) than in unilateral clefts of the lip and palate (UCLP) (51.6%) or clefts of the lip and alveolus (CLA) (34.5%) (p << 0.001). There was an average of 0.9 missing teeth per patient, thereof the upper lateral incisor was most often affected (23.2%). In contrast, supernumerary teeth were more frequent in CLA (51.7%; p = 0.014) than UCLP (29.0%) and BCLP patients (17.6%). CONCLUSION: The prevalence for numerical dental anomalies was significantly different among the cleft types. Hypodontia significantly increased with the extend of the cleft, whereas the prevalence of supernumerary teeth decreased.


Assuntos
Anodontia , Fenda Labial , Fissura Palatina , Anormalidades Dentárias , Dente Supranumerário , Anodontia/diagnóstico por imagem , Anodontia/epidemiologia , Fenda Labial/epidemiologia , Fissura Palatina/epidemiologia , Alemanha/epidemiologia , Humanos , Palato , Prevalência , Dente Supranumerário/diagnóstico por imagem , Dente Supranumerário/epidemiologia
20.
J Orthod ; 48(1): 33-41, 2021 03.
Artigo em Inglês | MEDLINE | ID: mdl-33118457

RESUMO

OBJECTIVE: To determine whether there are differences in the facial soft tissue morphology between participants with mild (up to two) or severe (six or more) hypodontia. DESIGN AND SETTING: A prospective hospital-based cohort study. PARTICIPANTS AND METHODS: Ninety-two participants, aged 11-16 years, with confirmed hypodontia were recruited. Participants were sub-grouped based on the severity (mild, two or less and severe, six or more) and distribution of the missing teeth and age. They underwent a three-dimensional (3D) optical surface scan of the facial soft tissues. Facial surface scans were compared quantitatively, applying landmark measurements and surface-based analysis. RESULTS: In total, 92 participants, with an equal distribution between the mild (n=46) and severe (n=46) categories, were recruited. Patients with severe hypodontia displayed a reduced alar base, lower facial height, nasolabial angle (P = 0.02) and transgonial width (P < 0.001) compared to those with milder hypodontia. Furthermore, significant differences were observed between mild-male and severe-female groups regarding alar base, lower anterior face height and transgonial width and between mild-male and mild-female groups regarding nasolabial angle and transgonial width. CONCLUSION: Significant reductions were seen in the 3D soft tissue morphology of participants with severe hypodontia, in terms of the nasolabial angle, lower facial height, alar base and transgonial widths, emphasising the importance of using facial scanning as a relatively simple non-invasive method of assessment.


Assuntos
Anodontia , Adolescente , Anodontia/diagnóstico por imagem , Cefalometria , Criança , Estudos de Coortes , Feminino , Humanos , Imageamento Tridimensional , Lasers , Masculino , Estudos Prospectivos
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