RESUMO
OBJECTIVES: This study aimed to investigate the clinical characteristics of congenital deciduous teeth absence and its permanent teeth performance type by using panoramic radiographs. METHODS: A total of 15 749 panora-mic radiographs of 3-6-year-old children with deciduous dentition were collected from January 2020 to December 2021. The incidence of congenital deciduous teeth absence was observed, and the abnormality of permanent teeth was recor-ded. SPSS 24.0 software was used for statistical analysis. RESULTS: The incidence of congenital deciduous teeth absence was 2.54% (400/15 749), which was found in 217 girls and 183 boys, and the difference between the genders was statistically significant (P=0.003). The absence of one and two deciduous teeth accounted for 99.75% (399/400) of the subjects. In addition, 92.63% (490/529) of mandibular deciduous lateral incisor was congenitally absent, 44.80% (237/529) of deciduous teeth was absent in the left jaw, and less than 55.20% (292/529) was absent in the right; the difference between them was statistically significant (P=0.017). The absence of 96.41% (510/529) deciduous teeth in the mandibular was significantly more than that of 3.59% (19/529) in the maxillary, and the difference between was statistically significant (P=0.000). Furthermore, 68.00% (272/400) and 32.00% (128/400) of deciduous teeth were absent in unilateral and bilateral, respectively, and the difference was statistically significant (P=0.000). Four types of congenital deciduous teeth absence with permanent teeth were observed as follows: 1) 73.91% (391/529) of permanent teeth was absent; 2) 20.60% (109/529) of permanent teeth was not absent; 3) the number of fused permanent teeth accounted for 4.91% (26/529); 4) the number of supernumerary teeth was 0.57% (3/529). CONCLUSIONS: Although the absence of congenital deciduous teeth is less common than that of permanent teeth, it affects deciduous and permanent teeth to some extent. Dentists should pay attention to trace and observe whether abnormalities are present in the permanent teeth and take timely measures to maintain children's oral health.
Assuntos
Anodontia , Dentes Fusionados , Anormalidades Dentárias , Dente Supranumerário , Masculino , Feminino , Humanos , Dente Decíduo , Dentição Permanente , Dente Supranumerário/complicações , Dente Supranumerário/epidemiologia , Anodontia/epidemiologia , Anodontia/etiologia , Anormalidades Dentárias/epidemiologia , Anormalidades Dentárias/complicações , Dentes Fusionados/complicações , Dentes Fusionados/epidemiologiaRESUMO
Introduction: Multidisciplinary diagnosis and planning are essential to define the treatment option that will provide the best individual results for patients with congenitally missing upper lateral incisors. Objective: To determine the function and aesthetics after the therapeutic use of osseintegrated implants to replace congenitally missing upper lateral incisors in a young female at 4.5 years follow-up. Case report: The patient was a 13 years old female (at beginning of treatment) with congenitally missing upper lateral incisors condition. Five months after the orthodontic active treatment, the space for placing the implants was achieved. After 2 years of Orthodontic treatment and the evaluation of the craniomandibular growth term by hand radiography, two implants were placed with an expanded bone technique in the position of the upper lateral incisors. After 4 months, osseointegration was clinically confirmed and two screw retained temporary crowns were performed using temporary plastic abutments and acrylic teeth and recalled at 4.5 years to control. Conclusions: Our results showed predictable esthetics and functional results in a patient with congenitally missing upper lateral incisors. This was possible due to a multidisciplinary approach between the diagnosis and treatment performed (Orthodontics, Implantology and Prosthodontics(AU)
Introducción: El diagnóstico y la planificación multidisciplinarios son esenciales para definir la opción de tratamiento que proporcionará los mejores resultados individuales para los pacientes con incisivos laterales superiores que faltan congénitamente. Objetivo: Fue determinar la función y la estética después del uso terapéutico de implantes osteointegrados para reemplazar los incisivos laterales superiores ausentes congénitamente en una mujer joven a los 4,5 años de seguimiento. Presentación del caso: La paciente, mujer de 13 años (al inicio del tratamiento) con una condición congénita de incisivos laterales superiores ausentes. Cinco meses después del tratamiento activo de ortodoncia, se logró el espacio para la colocación de los implantes. Después de 2 años de tratamiento de Ortodoncia y la evaluación del término de crecimiento cráneo-mandibular corroborado mediante radiografía de mano, se colocaron dos implantes con técnica de hueso expandido en la posición de los incisivos laterales superiores. Después de 4 meses, se confirmó clínicamente la osteointegración y se realizaron dos coronas provisionales atornilladas utilizando pilares de plástico provisionales y dientes acrílicos y se controlaron a los 4,5 años de seguimiento. Conclusiones: Nuestros resultados mostraron resultados estéticos y funcionales predecibles en un paciente con incisivos laterales superiores ausentes congénitamente. Esto fue posible gracias a un abordaje multidisciplinar entre el diagnóstico y el tratamiento realizado (Ortodoncia, Implantología y Prostodoncia(AU)
Assuntos
Humanos , Feminino , Adolescente , Aparelhos Ortodônticos , Ortodontia/métodos , Estética , Incisivo/anormalidades , Anodontia/etiologia , Prótese Ancorada no OssoRESUMO
Ectodermal Dysplasia (ED) is a rare genetic condition characterized by the involvement of ectoderm derivatives such as hair, nail, sweat glands, and teeth. It has many variants, but the two most common ones are hypohidrotic/anhidrotic ectodermal dysplasia and hidrotic ectodermal dysplasia. Herein, we present a case of a 20-year-old female with hypohidrotic ectodermal dysplasia who had anodontia, hypohidrosis, and hypotrichosis, and her condition went unrecognized until she was seen for gastroenteritis at a tertiary care center. This case report will help spread education and awareness regarding such a rare and under-recognized condition. Early diagnosis and intervention help improve the quality of life.
Assuntos
Anodontia , Displasia Ectodérmica Anidrótica Tipo 1 , Displasia Ectodérmica , Humanos , Feminino , Adulto Jovem , Adulto , Displasia Ectodérmica Anidrótica Tipo 1/complicações , Displasia Ectodérmica Anidrótica Tipo 1/diagnóstico , Qualidade de Vida , Displasia Ectodérmica/complicações , Displasia Ectodérmica/diagnóstico , Anodontia/etiologiaRESUMO
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 RetrospectivosRESUMO
Objetivo: verificar as principais agenesias dentárias e os fatores associados em portadores de fissura labiopalatina por meio de uma revisão de literatura. Métodos: foi realizada uma revisão de literatura utilizando as bases de dados PubMed, SciELO e Google Acadêmico. Revisão de literatura: foram incluídos 34 artigos, sendo 2 casos clínicos, 15 estudos retrospectivos, 10 revisões de literatura, 4 estudos de caso-controle e 5 estudos transversais; além de 3 referências escolhidas através de outras buscas para complementar a revisão. A partir dos estudos incluídos no trabalho, foi possível verificar que a maior prevalência ocorre no sexo masculino. E a fissura que mais acomete a população é a transforame incisivo. Pôde-se analisar também que não há causa exata, porém, existem fatores predisponentes, como os ambientais e os hereditários. Considerações finais: esta revisão de literatura poderá auxiliar os profissionais de saúde para a realização de diagnóstico e planejamento precoces, a fim de encontrar o melhor e mais eficiente tratamento para cada caso. O tratamento precoce, por uma equipe multidisciplinar, certamente garantirá uma melhor qualidade de vida aos pacientes.(AU)
Objective: to verify the main dental agenesis and associated factors in cleft lip and palate through a literature review. Methods: a literature review was carried out using PubMed, SciELO and Google Scholar databases. Literature review: 34 studies were included, 2 clinical studies, 1 retrospective study, 10 literature reviews, 4 case-control studies and 5 cross-sectional studies. In addition to 3 references chosen through other searches complementary to the review. From the included studies, it was verified a higher frequency of cleft lift and palate for the male sex, and a higher frequency of more severe clefts, such as the incisive transformation, in comparison to the labiopalatine. It can also be analyzed that there is no exact cause; however, there are environmental and hereditary predisposing factors. Final considerations: this literature review may help health professionals to carry out early diagnosis and treatment planning, in order to find the best and most efficient treatment for each case. Early treatment by a multidisciplinary team will certainly guarantee a better quality of life for patients.(AU)
Assuntos
Humanos , Criança , Fenda Labial/fisiopatologia , Fissura Palatina/fisiopatologia , Anodontia/fisiopatologia , Fenda Labial/etiologia , Fissura Palatina/etiologia , Anodontia/etiologiaRESUMO
BACKGROUND: Although metastatic involvement of bony sites including cranial bones is common in neuroblastoma (NB), mandibular metastases (MM) are uncommon, and specific outcomes have not been reported upon in the modern therapeutic era. METHODS: In this retrospective study, medical records on patients with MM from NB were reviewed. Statistical analysis was performed using the Kaplan-Meier method. RESULTS: Of 29 patients, nine (31%) had MM at diagnosis, whereas in 20 (69%) MM were first detected at NB relapse at a median time of 26 (6-89) months from diagnosis. Median maximal diameter of lesions was 3 (range 0.8-4.9) cm. MM were unilateral in 83% of patients, with ascending ramus (55%) and mandibular body (38%) being the two most common sites. All patients received systemic chemotherapy, and 26 (93%) patients received radiotherapy to MM. At a median follow-up of 37.3 (24.2-219.5) months, eight of nine patients with MM at diagnosis did not experience mandibular progressive disease. Eighteen of 20 patients with MM at relapse received therapeutic radiotherapy; objective responses were noted in 78%. Seventy-two percent (5/18) had not experienced relapse within the radiation field at a median of 12 (2-276) months postradiotherapy. Dental findings at follow-up after completion of NB therapy included hypodontia, hypocalcification of enamel, and trismus. Median 3-year overall survival in patients with relapsed MM was 51 ± 12% months from relapse. CONCLUSION: MM when detected at diagnosis is associated with a prognosis similar to that for other skeletal metastases of NB. Radiotherapy is effective for control of MM detected both at diagnosis and relapse. Significant dental abnormalities posttherapy warrant regular dental evaluations and appropriate intervention.
Assuntos
Mandíbula/patologia , Neoplasias Mandibulares/secundário , Neuroblastoma/patologia , Adolescente , Adulto , Anodontia/etiologia , Criança , Pré-Escolar , Dentição , Feminino , Humanos , Lactente , Estimativa de Kaplan-Meier , Masculino , Mandíbula/efeitos dos fármacos , Mandíbula/efeitos da radiação , Neoplasias Mandibulares/tratamento farmacológico , Neoplasias Mandibulares/patologia , Neoplasias Mandibulares/radioterapia , Neuroblastoma/tratamento farmacológico , Neuroblastoma/radioterapia , Estudos Retrospectivos , Trismo/etiologia , Adulto JovemRESUMO
ABSTRACT Objective: To determine the prevalence of third molar agenesis and associated characteristics. Material and Methods: A total of 2374 panoramic radiographs were retrieved from the radiological archives and evaluated in a computer monitor under optimum viewing conditions. The basic demographic data (age and sex) and the primary findings regarding the presence or absence of third molars in the maxillary and mandibular arches were recorded systematically in a specially designed proforma. Categorical variables were compared using the Chi-square test. Results: A total of 2000 panoramic radiographs were included in the study, of which 1004 were females (50.2%), and 996 were of males (49.8%). The incidence of third molar agenesis was 486 patients (24.3%). Maxillary third molar showed a higher prevalence of agenesis (28.8%) than mandibular third molars (16.4%). A total of 1514 patients (75.7%) had third molars in all four quadrants, and the remaining 486 patients (24.3%) had agenesis of third molar tooth in at least one of the quadrants. Single tooth agenesis was observed in 219 (11%) patients, two teeth agenesis in 172 (8.6%) patients, three teeth agenesis in 39 (2%) patients, and four teeth agenesis in 56 (2.8%) patients. Conclusion: The present study exhibited a maximum number of single tooth agenesis. It was also observed that maxillary third molar agenesis is more than the mandibular third molar and the right side is more than the left side. Agenesis of the third molar is more prevalent in males as compared to females.
Assuntos
Humanos , Masculino , Feminino , Adolescente , Adulto , Radiografia Panorâmica/instrumentação , Adulto Jovem , Dente Serotino/anormalidades , Distribuição de Qui-Quadrado , Índia/epidemiologia , Anodontia/etiologia , Dente Molar/anormalidadesRESUMO
Mutations of MSX1 have been associated with nonsyndromic hypodontia. To seek the causal gene mutation sites in a family with nonsyndromic oligodontia, whole-exome sequencing (WES) was performed to seek the causative locus of the family. The candidate mutation was further identified by Sanger sequencing afterward. Two mutations of MSX1 were found both in the proband and her mother. One novel heterozygous missense mutation (c.C667G, p.R223G) of MSX1 inherited from the asymptomatic mother with mosaic mutation was located in the highly conserved fragment of exon 2. The other was a synonymous mutation (c.C348T, p.G116G) in exon 1, which had been reported. The novel maternal heterozygous missense mutation (c.C667G, p.R223G) was likely to be the major reason for nonsyndromic oligodontia in the family. This is the first mosaic variant that has been recorded of the MSX1 gene. Our study expands the phenotype-genotype correlation associated with MSX1 variants. Our study also suggests that the determination of the mosaicism is essential for precise genetic counseling if a disease appears to arise de novo.
Assuntos
Anodontia/etiologia , Heterozigoto , Fator de Transcrição MSX1/genética , Mosaicismo , Mutação , Anodontia/patologia , Criança , Feminino , Estudos de Associação Genética , Humanos , Masculino , Linhagem , FenótipoRESUMO
BACKGROUND: Children born with unilateral cleft lip and palate (UCLP) are reported to display several dental anomalies including agenesis, supernumeraries, as well as variations in dental size, shape, and path of eruption. The extensive sample of individuals with UCLP included in the Scandcleft randomized control trials offers the opportunity to study more rare conditions, which is seldom possible with limited samples. OBJECTIVES: The aim was to study dental anomalies at 8 years of age in children born with UCLP included in the Scandcleft randomized control trials. METHODS: Panoramic and intraoral radiographs from 425 individuals (279 males and 146 females) with a mean age of 8.1 years were assessed by four orthodontists regarding dental anomalies. RESULTS: Agenesis was found in 52.5 per cent and supernumerary teeth in 16.9 per cent of the participants. The cleft lateral was missing in 43.8 per cent and was found peg shaped in 44.7 per cent. The distribution of ectopic eruption was 14.6 per cent, mainly affecting maxillary first molars, while transposition was found in 3.4 per cent of the individuals. In addition, infraocclusion of one or several primary molars was registered in 7.2 per cent of the participants. CONCLUSION: We conclude that 8-year-old children born with UCLP display multiple dental anomalies. The Scandcleft sample allowed rarely studied conditions such as infraocclusion of primary molars and transposition to be studied in children born with UCLP. TRIAL REGISTRATION: ISRCTN29932826.
Assuntos
Anodontia , Fenda Labial , Fissura Palatina , Anodontia/diagnóstico por imagem , Anodontia/etiologia , Criança , Fenda Labial/complicações , Fenda Labial/cirurgia , Fissura Palatina/complicações , Fissura Palatina/cirurgia , Feminino , Humanos , Masculino , Radiografia Panorâmica , Ensaios Clínicos Controlados Aleatórios como AssuntoRESUMO
OBJECTIVE: The objective was to investigate dental phenotypes in individuals with non-syndromic Pierre Robin Sequence (ns-PRS) and compare the prevalence of these phenotypes with subjects with non-syndromic cleft palate (ns-CP) and a control group with subjects without any craniofacial anomalies. METHODS: A total of 760 panoramic radiographs of 330 individuals (110 with ns-PRS; 110 with ns-CP and 110 without any malformations) were digitized and evaluated regarding the diagnosis of taurodontism, tooth agenesis, root dilaceration and tooth transposition. Chi-square test was applied to compare the occurrence of dental phenotypes between groups. A P value of less than 0.05 was considered statistically significant. RESULTS: Total prevalence of dental phenotypes was 94.5% of ns-PRS; 54.5% of ns-CP and 59.1% of the control group subjects with a statistically significant difference for the ns-PRS when compared to the other two groups. Two dental phenotypes, taurodontism and dental agenesis were identified with statistically significant higher prevalences in subjects with ns-PRS when compared with the ns-CP group and the control group (p < 0.001). Taurodontism was the most prevalent dental phenotype, with 92.73% in the ns-PRS group, 40.91% for ns-CP and 44.55% in the control group. Tooth agenesis had a prevalence of 22.7% for ns-PRS, 4.5% for ns-CP and no case in the control group. For the prevalence of root dilaceration and tooth transposition, no statistically significant differences were observed between the three groups. CONCLUSIONS: Due to the high frequency of taurodontism in individuals with ns-PRS, we suggested that this novel phenotype would be important in the phenotypic screening of ns-PRS and could be considered as a phenotype associated with ns-PRS.
Assuntos
Anodontia/diagnóstico por imagem , Anodontia/etiologia , Cavidade Pulpar/anormalidades , Síndrome de Pierre Robin/complicações , Síndrome de Pierre Robin/diagnóstico por imagem , Anormalidades Dentárias/diagnóstico por imagem , Anormalidades Dentárias/etiologia , Adolescente , Criança , Cavidade Pulpar/diagnóstico por imagem , Feminino , Humanos , Masculino , Fenótipo , Prevalência , Radiografia Panorâmica , Estudos Retrospectivos , Raiz Dentária/anormalidades , Raiz Dentária/diagnóstico por imagemRESUMO
AIM: The treatment of a complex case of hypohidrotic ectodermal dysplasia (HED) with severe oligodontia. CASE REPORT: A 6 years old boy with HED, was treated with an orthodontic/prosthetic modular appliance. The device is custom made and consists of two parts, upper and lower, which were partially removable and partially fixed. The patient was prepared to receive dental implants for definitive oral rehabilitation. The treatment begun with heath-cured acrylic resin removable appliance with expansion screw in the maxilla and in the mandible. Afterwards, an innovative orthodontic/prosthetic modular appliance was made in the maxilla and in the mandible, fixed with bands on the first permanent molars, with expansion screw and telescopic screw that follow and support the resin prosthetic teeth during the orthopaedic expansion. The resin prosthetic teeth are removable from the metallic fixed structure of this appliance.The patient was followed for 10 years from the beginning of treatment. CONCLUSION: The modular appliance here described and our therapeutic approach showed to be efficient and durable in the achievement of many goals in the treatment of a complex case of HED. The objectives were not only just orthodontic, but also prosthetic and psychological.
Assuntos
Anodontia/terapia , Displasia Ectodérmica/complicações , Ortodontia Interceptora/métodos , Anodontia/diagnóstico por imagem , Anodontia/etiologia , Criança , Humanos , Masculino , Desenho de Aparelho Ortodôntico , Ortodontia Interceptora/instrumentação , Técnica de Expansão Palatina , Radiografia PanorâmicaRESUMO
Hypohidrotic Ectodermal Dysplasia (HED) is a genetic human disorder which affects structures of ectodermal origin. Although there are autosomal recessive and dominant forms, X-linked (XL) is the most frequent form of the disease. This XL-HED phenotype is associated with mutations in the gene encoding the transmembrane protein ectodysplasin-1 (EDA1), a member of the TNFα-related signaling pathway. The proteins from this pathway are involved in signal transduction from ectoderm to mesenchyme leading to the development of ectoderm-derived structures in the fetus such as hair, teeth, skin, nails, and eccrine sweat glands. The aim of this review was to update the main clinical characteristics of HED regarding to recent molecular advances in the comprehension of all the possible genes involved in this group of disorders since it is known that Eda-A1-Edar signaling has multiple roles in ectodermal organ development, regulating their initiation, morphogenesis, and differentiation steps. The knowledge of the biological mechanisms that generate HED is needed for both a better detection of possible cases and for the design of efficient prevention and treatment approaches.
Assuntos
Displasia Ectodérmica Anidrótica Tipo 1/genética , Ectodisplasinas/genética , Receptor Edar/genética , Proteína de Domínio de Morte Associada a Edar/genética , Quinase I-kappa B/genética , Anodontia/etiologia , Displasia Ectodérmica Anidrótica Tipo 1/complicações , Displasia Ectodérmica Anidrótica Tipo 1/diagnóstico , Displasia Ectodérmica Anidrótica Tipo 1/patologia , Humanos , Hipo-Hidrose/etiologia , Hipotricose/etiologia , Mutação , Transdução de SinaisRESUMO
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. METHODS: Study casts, dental panoramic, anterior maxillary occlusal, and periapical radiographs of the patients were examined for cleft-sidedness, congenitally missing permanent teeth, supernumerary teeth, microdontic, and macrodontic teeth in the anterior maxillary region, presence of malformed permanent cleft-sided lateral incisor and its morphology (peg-shaped, conical shaped, canine-formed), positions of the permanent lateral incisors relative to the cleft side and presence of rotated cleft-sided central incisors. RESULTS: Of the 60 patients studied, 63.3% had hypodontia, 21.7% had supernumerary teeth, 69.6% had microdontia, and 12.5% had macrodontia. All of the cleft-sided permanent lateral incisors had associated anomalies, with a large proportion (43.1%) missing; and when present in 31 subjects, the majority (90.3%) was positioned distal to the cleft. Most of the cleft-sided permanent central incisors were rotated if present, and prevalent at 86.7%. CONCLUSION: A high prevalence of dental anomalies was observed in this sample of children with UCLP.
Assuntos
Fenda Labial/complicações , Fissura Palatina/complicações , Anormalidades Dentárias/epidemiologia , Anormalidades Dentárias/etiologia , Adolescente , Anodontia/diagnóstico por imagem , Anodontia/epidemiologia , Anodontia/etiologia , Fenda Labial/diagnóstico por imagem , Fenda Labial/cirurgia , Fissura Palatina/diagnóstico por imagem , Fissura Palatina/cirurgia , Dentição Permanente , Feminino , Humanos , Estudos Longitudinais , Masculino , Prevalência , Radiografia Dentária , Estudos Retrospectivos , Singapura/epidemiologia , Anormalidades Dentárias/diagnóstico por imagem , Dente Supranumerário/diagnóstico por imagem , Dente Supranumerário/epidemiologia , Dente Supranumerário/etiologiaAssuntos
Anodontia/diagnóstico , Ataxia/diagnóstico , Hipogonadismo/diagnóstico , Leucoencefalopatias/diagnóstico , Anodontia/etiologia , Ataxia/etiologia , Criança , Feminino , Humanos , Hipogonadismo/complicações , Hipogonadismo/genética , Leucoencefalopatias/diagnóstico por imagem , Imageamento por Ressonância MagnéticaRESUMO
We present association results from a large genome-wide association study of tooth agenesis (TA) as well as selective TA, including 1,944 subjects with congenitally missing teeth, excluding third molars, and 338,554 controls, all of European ancestry. We also tested the association of previously identified risk variants, for timing of tooth eruption and orofacial clefts, with TA. We report associations between TA and 9 novel risk variants. Five of these variants associate with selective TA, including a variant conferring risk of orofacial clefts. These results contribute to a deeper understanding of the genetic architecture of tooth development and disease. The few variants previously associated with TA were uncovered through candidate gene studies guided by mouse knockouts. Knowing the etiology and clinical features of TA is important for planning oral rehabilitation that often involves an interdisciplinary approach.
Assuntos
Anodontia/genética , Anodontia/epidemiologia , Anodontia/etiologia , Feminino , Estudo de Associação Genômica Ampla , Humanos , Islândia/epidemiologia , Masculino , Polimorfismo de Nucleotídeo Único/genética , Fatores de RiscoRESUMO
Floating-Harbor syndrome (FHS) is a rare genetic condition characterized by distinct facial features, short stature and delayed skeletal development. Here we present case of a 14-year-old boy with short stature, typical facial features, impaired voice quality, clinodactyly, cryptorchidism and unilateral agenesis of kidney. In addition he had oligodontia and ankyloglossia with features suggestive of FHS. Treatment rendered was restoration of caries, application of pit and fissure sealants followed by frenectomy. The purpose of this report is to highlight the oral developmental anomalies and the management of a patient with FHS and to add to the current knowledge of the literature on this syndrome.
Assuntos
Anquiloglossia/etiologia , Anodontia/etiologia , Anormalidades Craniofaciais/complicações , Transtornos do Crescimento/complicações , Comunicação Interventricular/complicações , Anormalidades Múltiplas , Adolescente , Anquiloglossia/terapia , Anodontia/terapia , Humanos , Masculino , Radiografia PanorâmicaRESUMO
Cherubism is an autosomal-dominant benign bone disorder, characterized by fibro-osseous lesions in the mandible and maxilla commonly caused by mutations in the SH3-binding protein 2-gene. The purpose of the authors' study was to analyze craniofacial and dental features of children diagnosed with cherubism, describe their treatment, and assess their dental age compared with norms for Finnish children. Six children were diagnosed, followed up and treated due to dental and skeletal disorders caused by cherubsim. The patients were followed up for an average of 91.5 months with emphasis on the skeletal changes and development of dentition. The treatment consisted of minor orthodontic treatment, dental extractions, and exposures. One patient underwent cosmetic mandibular surgery. All patients had lesions in the lower jaw and 5 of 6 patients had lesions in the maxilla as well. The patients were characterized by varying swelling of the jaws, premature loss of deciduous teeth in the affected area and widely spaced, displaced, un-erupted, or absent permanent teeth. The dental age was delayed at younger age but near to normal or even a little ahead at older age. Even though cherubism affects the jaws, jaw positions, and malocclusion, no common dentofacial proportions associated with the disease could be confirmed by cephalometric analysis. The surgical interventions did not provoke adverse reactions or local growth of the lesions.
Assuntos
Anodontia/etiologia , Querubismo/complicações , Querubismo/terapia , Cefalometria , Criança , Pré-Escolar , Dentição Permanente , Feminino , Humanos , Masculino , Mandíbula/patologia , Maxila/patologia , Ortodontia Corretiva , Extração Dentária , Perda de Dente/etiologia , Dente Decíduo , Dente não Erupcionado/etiologiaRESUMO
Telescopic crown attachments have been successfully used in completely and partially edentulous patients. This type of attachment provides retention, support, and stability with optimal hygiene for the removable dental prosthesis (RDP). With the emergence of CAD/CAM technology, telescopic crown attachments can be virtually designed and milled precisely to ensure a passive fit of the attachment parts and maximal functionality of the RDP. This article reviews both the clinical outcome and prosthodontic rehabilitation of telescopic crown attachments of an edentulous ectodermal dysplasia patient with solitary rigid conical telescopic crown attachments.
Assuntos
Anodontia/reabilitação , Coroas , Prótese Dentária Fixada por Implante , Prótese Total , Revestimento de Dentadura , Displasia Ectodérmica/reabilitação , Androsterona/análogos & derivados , Anodontia/etiologia , Planejamento de Dentadura/métodos , Diterpenos , Displasia Ectodérmica/complicações , Humanos , Masculino , Pessoa de Meia-IdadeRESUMO
Little is known about environmental risk factors for hypodontia. The objective of this study was to investigate the association between hypodontia and common environmental risk factors, such as maternal smoking and alcohol and caffeine consumption during pregnancy. Eighty-nine hypodontia cases with 1 or more missing permanent lateral incisors and/or 1 or more missing premolars were enrolled in this clinic-based case-control study. Some 253 controls with no missing teeth were frequency matched to cases by age and sex. Hypodontia was diagnosed using panoramic radiographs. Sociodemographic data were collected from both the participants and their mothers, with maternal self-reported active and passive smoking, as well as alcohol and caffeine consumption during pregnancy, assessed by a questionnaire. Odds ratios (ORs) and their 95% confidence intervals (CIs) were calculated with logistic regression to assess the strength of association between risk factors and hypodontia. OR estimates were then adjusted for possible confounders, such as maternal age at delivery, sex and gestational age of the child, and household socioeconomic background. Significant associations were found between hypodontia and maternal cigarette use during pregnancy, as well as the number of cigarettes smoked per day. The consumption of 10 or more cigarettes per day during pregnancy was associated with greater odds of having a child with hypodontia (adjusted OR, 4.18; 95% CI, 1.48-11.80; P = 0.007). Observed associations between hypodontia, second-hand smoke, and alcohol and caffeine consumption were not statistically significant. Maternal smoking during pregnancy is associated with hypodontia. Larger samples and prospective observational study designs, however, are needed to investigate this association further.
Assuntos
Anodontia/etiologia , Mães , Efeitos Tardios da Exposição Pré-Natal , Fumar/efeitos adversos , Adolescente , Adulto , Consumo de Bebidas Alcoólicas/efeitos adversos , Anodontia/diagnóstico por imagem , Cafeína/efeitos adversos , Estudos de Casos e Controles , Feminino , Idade Gestacional , Humanos , Masculino , Idade Materna , Gravidez , Radiografia Panorâmica , Fatores de Risco , Fatores Socioeconômicos , Inquéritos e QuestionáriosRESUMO
Hypodontia, or tooth agenesis, is the most prevalent craniofacial malformation in humans. It may occur as part of a recognised genetic syndrome or as a nonsyndromic isolated trait. Excluding third molars, the reported prevalence of hypodontia ranges from 1.6 to 6.9%, depending on the population studied. Most affected individuals lack only one or two teeth, with permanent second premolars and upper lateral incisors the most likely to be missing. Both environmental and genetic factors are involved in the aetiology of hypodontia, with the latter playing a more significant role. Hypodontia individuals often present a significant clinical challenge for orthodontists because, in a number of cases, the treatment time is prolonged and the treatment outcome may be compromised. Hence, the identification of genetic and environmental factors may be particularly useful in the early prediction of this condition and the development of prevention strategies and novel treatments in the future.