Résumé
Objetivo: avaliar a prevalência de anomalias dentárias (AD) e outros achados orais em radiografias panorâmicas de pacientes com fissuras labiopalatais (FLP) nascidos no Nordeste brasileiro. Métodos: a amostra foi composta por 69 pacientes com fissuras labiopalatais unilateral (FLPu) (n = 51) e bilateral (FLPb) (n = 18), não sindrômicos, de ambos os sexos, idade de 6 a 17 anos, nascidos no Nordeste brasileiro. Foram analisados prontuários e radiografias panorâmicas de pacientes atendidos de janeiro/2020 a julho/2022. Os dados categóricos foram expressos em forma de frequência absoluta e percentual e comparados por teste exato de Fisher ou qui-quadrado de Pearson (SPSS, p < 0,05). Resultados: entre os achados orais, destacaram-se as anomalias de número e as ausências dentárias por trauma, cárie ou doença periodontal. As AD foram identificadas em 34 pacientes (49,3%). As anomalias de número apresentaram maior prevalência, com diferença estatística significativa para pacientes FLPb do sexo masculino (p = 0,047). A agenesia foi a AD mais frequente (n = 24; 34,8%). As ausências dentárias por trauma, cárie ou doença periodontal foram observadas em 44 pacientes (n = 63,8%), com uma diferença estatística significativa entre os grupos FLPu e FLPb (p = 0,018). Conclusões: as AD e as ausências dentárias por trauma, cárie ou doença periodontal apresentaram uma alta prevalência entre pacientes brasileiros com FLP e devem ser consideradas durante o planejamento ortodôntico-cirúrgico desses indivíduos.
Aim: this study aimed to assess the prevalence of dental anomalies (DA) and other oral findings in panoramic radiographs of patients with cleft lip and palate (CLP) born in the Northeast region of Brazil. Methods: the sample consisted of 69 patients with unilateral cleft lip and palate (UCLP) (n = 51) and bilateral cleft lip and palate (BCLP) (n = 18), non-syndromic, of both genders, aged 6 to 17 years, born in the Brazilian Northeast. Patient records and panoramic radiographs from those treated between January 2020 and July 2022 were analyzed. Categorical data were expressed as absolute frequency and percentage and compared using Fisher's exact test or Pearson's chi-square test (SPSS, p < 0.05). Results: among oral findings, anomalies in number and tooth absences due to trauma, caries, or periodontal disease stood out. DAs were identified in 34 patients (49.3%). Anomalies in number showed higher prevalence, with a statistically significant difference for male BCLP patients (p = 0.047). Agenesis was the most frequent DA (n = 24; 34.8%). Tooth absences due to trauma, caries, or periodontal disease were observed in 44 patients (63.8%), with a statistically significant difference between the UCLP and BCLP groups (p = 0.018). Conclusions: DAs and tooth absences due to trauma, caries, or periodontal disease showed a high prevalence among Brazilian patients with CLP and should be considered during the orthodontic-surgical planning for these individuals.
Sujets)
Humains , Mâle , Femelle , Enfant , Adolescent , Malformations dentaires , Fente palatine , Prévalence , Bec-de-lièvre , Malformations crâniofacialesRésumé
Aim: This study aimed to investigate the occurrence of enamelin gene (ENAM) single nucleotide polymorphisms (SNP) and ENAM polymorphism association with dental anomalies (DA) in individuals with unilateral or bilateral cleft lip and palate (CLP). Methods: Saliva samples were collected from 147 individuals aged between 6 and 15 years-old, both genders, and divided into 4 groups: Group 1 (G1) - CLP and DA; Group 2 (G2) - CLP without DA; Group 3 (G3) - without CLP with DA; Group 4 (G4) - without CLP and DA. The genomic DNA was extracted from saliva samples and the following ENAM SNPs markers were genotyped: rs3796703, rs3796704, rs3796705, rs7671281, rs2609428, and rs35951442. Fisher exact and Pearson's Chi-square tests statistically analyzed the results (α=5%). Results: Individuals without CLP with DA (Group 3 - 19.2%) showed statistically higher prevalence of SNP rs2609428 heterozygotes (p=0.006) than individuals with CLP and DA (Group 1 - 0%). Individuals without CLP (10%) exhibited statistically higher prevalence of mutated heterozygotes/homozygous (p=0.028) than in individuals with CLP (1.3%). Conclusion: SNP rs2609428 marker of ENAM gene may be associated with dental anomalies in individuals without cleft lip and palate
Sujets)
Humains , Mâle , Femelle , Enfant , Adolescent , Malformations dentaires , Protéines de la matrice extracellulaire , Bec-de-lièvre , Fente palatine , Polymorphisme de nucléotide simpleRésumé
El síndrome de Cornelia de Lange (SCdL) es un trastorno genético poco frecuente y se atribuye principalmente a mutaciones en los genes NIPBL, SMC3 y SMC1A. Sus principales características clínicas son múltiples anomalías congénitas, dimorfismo facial, hirsutismo, hipertricosis, retraso psicomotor, discapacidad intelectual, restricción del crecimiento prenatal y postnatal, anomalías de manos y pies, así como malformaciones congénitas que afectan a distintos órganos. En pacientes con SCdL es necesario hacer hincapié en la higiene oral debido a la discapacidad intelectual que puede presentarse y asegurarse de que se realiza una adecuada valoración y saneamiento dental de forma periódica con el fin de prevenir enfermedades bucodentales. El objetivo de este reporte de caso es describir el manejo odontológico de un paciente de 10 años con SCdL y revisar las características clínicas y hallazgos radiológicos presentes en la cavidad oral (AU)
Cornelia de Lange syndrome (CdLS) is a rare genetic disorder and is principally attributed to mutations in the NIPBL, SMC3 and SMC1A genes. The main clinical characteristics are multiple congenital anomalies, facial dimorphism, hirsutism, hypertrichosis, psychomotor retardation, intellectual disability, prenatal and postnatal growth restriction, hand and foot anomalies, as well as congenital malformations affecting different organs. In patients with CDLS, it is necessary to focus on oral hygiene due to the intellectual disability that may be present and to ensure that adequate dental valuation and hygiene is routinely performed in order to prevent oral diseases. The aim of this case report is to describe the dental management of a 10-year-old patient with CDLS and review the clinical characteristics and radiological findings that are present in the oral cavity (AU)
Sujets)
Humains , Femelle , Enfant , Manifestations buccales , Soins dentaires pour malades chroniques/méthodes , Syndrome de Cornelia de Lange/thérapie , Syndrome de Cornelia de Lange/imagerie diagnostique , Orthodontie correctrice/méthodes , École dentaire , Malformations dentaires , Soins dentaires pour enfants/méthodes , Malformations maxillofaciales , Syndrome de Cornelia de Lange/anatomopathologie , MexiqueRésumé
El objetivo de este estudio fue determinar la prevalencia de anomalías dentomaxilares y la necesidad de tratamiento ortodóncico en escolares pertenecientes al pueblo originario de Rapa Nui. Se realizó un estudio descriptivo, observacional, transversal y no probabilístico. Se evaluaron 85 alumnos entre primero básico y primero medio, entre los 6 y 16 años de edad, de dos colegios de Rapa Nui. Se realizó un examen clínico estandarizado, realizado por dos investigadores previamente calibrados, donde se completó una ficha clínica diseñada para el estudio. Para el análisis de las anomalías dentomaxilares se realizó un escaneo digital de la cavidad oral completa para su posterior análisis. De 85 estudiantes evaluados, 75 (88,2 %) se encontraban afectados por algún tipo de anomalía dentomaxilar en el plano sagital, vertical y/o transversal, independiente de su gravedad. Un 87,1 % de los estudiantes necesitan tratamiento ortodóncico según el Índice de Necesidad de Tratamiento Ortodóncico, de los cuales un 57,7, % se clasificó dentro de los rangos de moderado, grave y muy grave. Existe una alta prevalencia de anomalías dentomaxilares en los escolares pertenecientes al pueblo originario Rapa Nui, encontrándose por sobre las cifras nacionales como internacionales, lo cual da como resultado que la mayoría de los alumnos evaluados necesiten de algún tipo tratamiento ortodóncico, ya sea preventivo, interceptivo y/o correctivo.
The aim of this study was to determine the prevalence of dentomaxillary anomalies and the need for orthodontic treatment in schoolchildren belonging to the Rapa Nui native people. A descriptive, observational, cross- sectional and non-probabilistic study was carried out. Eighty- five students between first grade and first middle school, between 6 and 16 years of age, from two schools of Rapa Nui were evaluated. A standardized clinical examination was performed by two previously calibrated investigators, where a clinical record designed for the study was completed. For the analysis of dentomaxillary anomalies, a digital scan of the full mouth was performed for subsequent analysis. Of 85 students evaluated, 75 (88.2 %) were affected by some type of dentomaxillary anomaly in the sagittal, vertical and/or transversal plane, regardless of its severity. Some 87.1 % of the students needed orthodontic treatment according to the Orthodontic Treatment Need Index, of which 57.7 % were classified within the moderate, severe and very severe ranges. There is a high prevalence of dentomaxillary anomalies in schoolchildren belonging to the Rapa Nui native people, which is above the national and international figures, resulting in the majority of the students evaluated needing some type of orthodontic treatment, whether preventive, interceptive and/or corrective.
Sujets)
Humains , Mâle , Femelle , Enfant , Adolescent , Malformations dentaires/épidémiologie , Peuples autochtones , Chili/épidémiologie , Prévalence , Indice de besoin de traitement orthodontique/méthodes , Malocclusion dentaire/épidémiologieRésumé
Objective: To estimate the prevalence of three roots in deciduous mandibular molars. Methodology: Electronic searches were carried out in PubMed and Scopus to identify cross-sectional studies published up to September 2023. The Joanna Briggs Institute tool was used to critically appraise the studies. STATA 16.0 was used to generate risk of bias figures and perform the meta-analysis. Results: Eighteen studies evaluating 9,067 patients (8,969 first molars and 10,765 second molars) were included in this review. The overall prevalence of radix in mandibular deciduous molars was 9.61% (3.67% for first molars and 18.72% for second molars). The prevalence rate of teeth diagnosed using Cone Beam Computed Tomography (CBCT) was similar to the diagnoses made using conventional radiographic techniques together (periapical, interproximal and panoramic). Final considerations: Lower deciduous molars with three roots have a prevalence of almost 10%, with a higher prevalence in second molars. The diagnosis of this morphological alteration can be made using conventional radiographic techniques, but the use of CBCT is recommended.(AU)
Objetivo: estimar a prevalência de três raízes em molares inferiores decíduos. Metodologia: foram realizadas buscas eletrônicas na PubMed e Scopus para identificar estudos transversais publicados até setembro/2023. Para a avaliação crítica dos estudos foi utilizada a ferramenta do Instituto Joanna Briggs. STATA 16.0 foi usado para gerar figura do risco de viés e realizar a metanálise. Resultados: dezoito estudos que avaliaram 9.067 pacientes (8.969 primeiros molares e 10.765 segundos molares) foram incluídos nesta revisão. A prevalência global de radix em molares decíduos inferiores foi de 9,61% (3,67% para primeiros molares e 18,72% para segundo molares). A taxa de prevalência de dentes com diagnóstico através de Tomografia Computadorizada Cone Beam (TCCB) foi semelhante aos diagnósticos realizados pelas técnicas radiográficas convencionais em conjunto (periapical, interproximal e panorâmica). Considerações finais: os molares decíduos inferiores com três raízes têm uma prevalência de quase 10%, com maior prevalência em segundo molares. O diagnóstico desta alteração morfológica pode ser feito através das técnicas radiográficas convencionais, porém recomenda-se a utilização de TCCB.(AU)
Sujets)
Humains , Malformations dentaires/épidémiologie , Racine dentaire/malformations , Molaire/malformations , Prévalence , Tomodensitométrie à faisceau coniqueRésumé
Introdução: o odontoma é considerado como um frequente tumor odontogênico benigno, podendo ser classificado em tipo composto ou tipo complexo. O cisto dentígero é o mais comum entre os cistos odontogênicos de desenvolvimento, onde envolve a coroa da unidade dentária no nível da junção amelocementária. Há poucos estudos na literatura do encontro das duas lesões, acometendo o mesmo local na cavidade oral. O diagnóstico pode ser constituído por exame clínico e de imagem. Objetivo: apresentar um caso clínico de odontoma composto e cisto dentígero em região de parassínfise mandibular esquerda abordando as caraterísticas clínicas destas duas lesões e as adequadas formas de tratamento. Relato de caso: paciente do sexo masculino, 16 anos de idade, compareceu ao ambulatório do Centro Odontológico da Escola Bahiana de Medicina e Saúde Pública (Salvador, Bahia), portando encaminhamento de ortodontista, solicitando exodontia da unidade dentária 33 inclusa associada a um odontoma. Ao realizar exames físicos e imaginológicos detectou-se a hipótese diagnóstica de odontoma composto associado a unidade dentária, envolto em folículo pericoronário ou cisto dentígero. Foi realizada biópsia excisional das duas lesões e exodontia da unidade. A análise histopatológica confirmou o diagnóstico para odontoma composto associado a cisto dentígero na unidade 33. Ao acompanhamento de 03 meses, paciente apresentou neoformação óssea da região de parassínfise mandibular, mediante a análise de novos exames imaginológicos. Discussão: há poucos estudos na literatura da associação entre as duas lesões, porém relatos afirmam que o odontoma pode ser encontrado associado aos cistos odontogênicos. Por conta da falta de maiores estudos dessa associação, há escassez de recomendações terapêuticas de acordo com faixa etária e extensão do acometimento das lesões. Considerações finais: lesões comumente assintomáticas, tem o diagnóstico constituído por exame clínico e avaliação de exames de imagem(AU)
Introduction: odontoma is considered a frequent benign odontogenic tumor and can be classified as a compound or complex type. The dentigerous cyst is the most common among developmental odontogenic cysts, where it involves the crown of the dental unit at the level of the cementoenamel junction. There are few studies in the literature on the meeting of the two lesions, affecting the same site in the oral cavity. The diagnosis can be made by clinical and imaging examination. Objective: to present a clinical case of compound odontoma and dentigerous cyst in the left mandibular parasymphysis region, addressing the clinical characteristics of these two lesions and the appropriate forms of treatment. Case report: male patient, 16 years old, attended the outpatient clinic of the Centro Odontológico da Escola Bahiana de Medicina e Saúde Pública (Salvador, Bahia), having been referred by an orthodontist, requesting extraction of the included dental unit 33 associated with an odontoma. Upon physical and imaging examinations, the diagnostic hypothesis of a compound odontoma associated with a dental unit, surrounded by a pericoronal follicle or dentigerous cyst, was detected. Excisional biopsy of the two lesions and extraction of the unit were performed. The histopathological analysis confirmed the diagnosis of compound odontoma associated with dentigerous cyst in unit 33. At the 03-month follow-up, the patient presented bone neoformation in the mandibular parasymphysis region, through the analysis of new imaging exams. Discussion: there are few studies in the literature on the association between the two lesions, but reports state that odontoma can be found associated with odontogenic cysts. Due to the lack of further studies on this association, there is a lack of therapeutic recommendations according to age group and extent of lesion involvement. Final considerations: commonly asymptomatic lesions, the diagnosis consists of clinical examination and evaluation of imaging tests(AU)
Sujets)
Humains , Mâle , Adolescent , Kyste dentigère , Odontome , Couronne dentaire , Malformations dentaires , Kyste dentigère/diagnostic , Kyste dentigère/thérapie , Kystes odontogènes , Tumeurs odontogènes , Odontome/diagnostic , Odontome/thérapie , Couronne dentaire/malformations , TumeursRésumé
Introdução: Os odontomas compostos são tumores odontogênicos benignos mistos, mais comumente encontrados na região anterior da maxila, com predileção pela segunda década de vida, podendo levar à má oclusão, interferência na erupção dos dentes, deslocamento e malformação dos dentes adjacentes. Em alguns casos, leva à erupção ectópica, diastemas persistentes, divergências do longo eixo do dente e assimetria facial. Devido a isso, o tratamento mais comum é a remoção cirúrgica conservadora. Relato de caso: Paciente do sexo masculino, 13 anos, com presença de odontoma composto em região anterior de maxila. O mesmo foi submetido à enucleação cirúrgica para remoção e diagnóstico adequado da lesão, a partir da análise anatomopatológica do espécime. Conclusão: Por ser uma patologia comum nos maxilares, é adequado que o profissional conheça suas principais características para o correto diagnóstico, bem como o tratamento mais adequado para cada paciente... (AU)
Introduction: Compound odontomas are mixed benign odontogenic tumors, most commonly found in the anterior maxillary region, with a predilection for the second decade of life, may lead to malocclusion, interference in the eruption of teeth, displacement and malformation of adjacent teeth. In some cases, it leads to ectopic eruption, persistent diastemas, divergences of the long axis of the tooth and facial asymmetry. Because of this, the most common treatment is conservative surgical removal. Case report: A 13 year-old male, with presence of compound odontoma in anterior region of maxilla. The patient was underwent surgical enucleation for treatment and propper diagnosis of lesion. Conclusion: As it is a common pathology in the jaws, it is appropriate for the professional to know its main characteristics for the correct diagnosis, as well as the most appropriate treatment for each patient... (AU)
Introduccíon: Los odontomas compuestos son tumores odontogénicos mixtos benignos, que se encuentran con mayor frecuencia en la región anterior del maxilar, con predilección por la segunda década de la vida, lo que puede ocasionar maloclusión, interferencia con la erupción dentaria, desplazamiento y malformación de los dientes adyacentes. En algunos casos, conduce a erupción ectópica, diastema persistente, divergencia del eje longitudinal del diente y asimetría facial. Debido a esto, el tratamiento más común es la extirpación quirúrgica conservadora. Reporte de caso: Paciente masculino, de 13 años, con presencia de odontoma compuesto en la región anterior del maxilar. El mismo fue sometido a enucleación quirúrgica para extirpación y adecuado diagnóstico de la lesión, a partir del análisis anatomopatológico del espécimen. Conclusíon: Por tratarse de una patología común en los maxilares, es conveniente que el profesional conozca sus principales características para el correcto diagnóstico, así como el tratamiento más adecuado para cada paciente... (AU)
Sujets)
Humains , Mâle , Adolescent , Malformations dentaires , Tumeurs odontogènes , Maxillaire/malformations , Maladies du maxillaire supérieurRésumé
Introdução: Odontoma é o tipo mais comum de tumor odontogênico, contudo são lesões assintomáticas, de crescimento lento e indolor, descobertos geralmente em consultas de rotina, e que muito comumente são causadores de impactação dentária. Esse trabalho tem por objetivo relatar o caso clínico de uma criança que apresentava um odontoma composto na pré-maxila, ocasionando a impactação de seu incisivo central e comprometimento estético. Relato de caso: Paciente de 12 anos, em preparo para tratamento ortodôntico, no qual na etapa de exames de imagem, foi percebido um odontoma composto na região anterior da maxila o qual impedia a irrupção do dente 21, onde para que se conseguisse o melhor aproveitamento estético e funcional, foi indicado a remoção do tumor com 43 estruturas semelhantes a dentes e o tracionamento do dente associado. Conclusão: O tratamento do odontoma não costuma ter recidivas, permitindo o aproveitamento de possíveis dentes associados e manutenção de estruturas nobres adjacentes. Possibilitando também, o tracionamento do dente impactado ao arco dental, restituindo saúde e estética... (AU)
Introduction: Odontoma is the most common type of odontogenic tumor. They are asymptomatic, slow-growing lesions of unknown etiopathogenesis. They have a density similar to teeth, surrounded by a thin radiolucent halo. Objective: To report a clinical case of traction surgery of an impacted tooth associated with compound odontoma, and a brief literature review. Case report: Patient presented composite odontoma in the anterior region of the maxilla, preventing the eruption of tooth 21. The lesion was noticed during the preparation of the orthodontic treatment and for the success of such procedure, the treatment consisted of the excision of the lesion composed of 43 similar structures to teeth and the preparation of the traction of the maxillary central incisor. Conclusion: The removal of the odontoma was extremely relevant, with this, the impacted tooth was exposed, allowing the placement of the orthodontic button for its traction. Positioning the missing tooth in the dental arch, restoring health and aesthetics... (AU)
Introducción: El odontoma es el tipo más común de tumor odontogénico. Son lesiones asintomáticas, de crecimiento lento y de etiopatogenia desconocida. Tienen una densidad similar a los dientes, rodeados de un fino halo radiotransparente. Objetivo: Reportar un caso clínico de cirugía de tracción de un diente retenido asociado a odontoma compuesto, y una breve revisión de la literatura. Reporte de caso: Paciente presentó odontoma compuesto en la región anterior del maxilar, impidiendo la erupción del diente 21. La lesión fue notada durante la preparación del tratamiento de ortodoncia y para el éxito de dicho procedimiento, el tratamiento consistió en la escisión de la lesión. compuesto por 43 estructuras similares a los dientes y la preparación de la tracción del incisivo central maxilar. Conclusión: La remoción del odontoma fue de suma relevancia, con esto se logró exponer el diente impactado, permitiendo la colocación del botón de ortodoncia para su tracción. Posicionamiento del diente faltante en la arcada dentaria, restaurando la salud y la estética... (AU)
Sujets)
Humains , Mâle , Enfant , Malformations dentaires , Traction , Tumeurs odontogènes , Maxillaire/chirurgieRésumé
OBJECTIVE@#To explore the clinical and genetic characteristics of three children with KBG syndrome.@*METHODS@#Clinical data of the three children from two families who have presented at the First Affiliated Hospital of Zhengzhou University between October 2019 and September 2020 and their family members were collected. Trio-whole exome sequencing (trio-WES) and Sanger sequencing were carried out.@*RESULTS@#All children had feeding difficulties, congenital heart defects and facial dysmorphism. The sib- pair from family 1 was found to harbor a novel de novo heterozygous c.6270delT (p.Q2091Rfs*84) variant of the ANKRD11 gene, whilst the child from family 2 was found to harbor a novel heterozygous c.6858delC (p.D2286Efs*51) variant of the ANKRD11 gene, which was inherited from his mother who had a mild clinical phenotype.@*CONCLUSION@#The heterozygous frameshift variants of the ANKRD11 gene probably underlay the disease in the three children. Above findings have enriched the spectrum of the ANKRD11 gene variants.
Sujets)
Femelle , Enfant , Humains , Malformations multiples/génétique , Déficience intellectuelle/génétique , Dysplasies osseuses/génétique , Malformations dentaires/génétique , Faciès , Protéines de répression/génétique , Mères , MutationRésumé
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.
Sujets)
Mâle , Femelle , Humains , Dent de lait , Denture permanente , Dent surnuméraire/épidémiologie , Anodontie/étiologie , Malformations dentaires/complications , Dents fusionnées/épidémiologieRésumé
Objective: To analyze the clinical and genetic characteristics of pediatric patients with dual genetic diagnoses (DGD). Methods: Clinical and genetic data of pediatric patients with DGD from January 2021 to February 2022 in Peking University First Hospital were collected and analyzed retrospectively. Results: Among the 9 children, 6 were boys and 3 were girls. The age of last visit or follow-up was 5.0 (2.7,6.8) years. The main clinical manifestations included motor retardation, mental retardation, multiple malformations, and skeletal deformity. Cases 1-4 were all all boys, showed myopathic gait, poor running and jumping, and significantly increased level of serum creatine kinase. Disease-causing variations in Duchenne muscular dystrophy (DMD) gene were confirmed by genetic testing. The 4 children were diagnosed with DMD or Becker muscular dystrophy combined with a second genetic disease, including hypertrophic osteoarthropathy, spinal muscular atrophy, fragile X syndrome, and cerebral cavernous malformations type 3, respectively. Cases 5-9 were clinically and genetically diagnosed as COL9A1 gene-related multiple epiphyseal dysplasia type 6 combined with NF1 gene-related neurofibromatosis type 1, COL6A3 gene-related Bethlem myopathy with WNT1 gene-related osteogenesis imperfecta type XV, Turner syndrome (45, X0/46, XX chimera) with TH gene-related Segawa syndrome, Chromosome 22q11.2 microduplication syndrome with DYNC1H1 gene-related autosomal dominant lower extremity-predominant spinal muscular atrophy-1, and ANKRD11 gene-related KBG syndrome combined with IRF2BPL gene-related neurodevelopmental disorder with regression, abnormal movement, language loss and epilepsy. DMD was the most common, and there were 6 autosomal dominant diseases caused by de novo heterozygous pathogenic variations. Conclusions: Pediatric patients with coexistence of double genetic diagnoses show complex phenotypes. When the clinical manifestations and progression are not fully consistent with the diagnosed rare genetic disease, a second rare genetic disease should be considered, and autosomal dominant diseases caused by de novo heterozygous pathogenic variation should be paid attention to. Trio-based whole-exome sequencing combining a variety of molecular genetic tests would be helpful for precise diagnosis.
Sujets)
Humains , Malformations multiples , Études rétrospectives , Déficience intellectuelle/génétique , Dysplasies osseuses/complications , Malformations dentaires/complications , Faciès , Myopathie de Duchenne/complications , Amyotrophie spinale/complications , Protéines de transport , Protéines nucléairesRésumé
Introducción: Las anomalías de la forma, en niños y niñas, son en gran medida frecuentes, por ello su estudio es importante para precisar diagnósticos, dado que pueden tener diferentes implicancias odontológicas. A la altura de la cúspide mesiopalatina de los segundos molares superiores temporarios, primeros molares superiores permanentes, y con menor frecuencia en los segundos molares superiores permanentes, es posible reconocer una cúspide accesoria o tubérculo denominada de Carabelli (TC).Objetivos: Determinar la prevalencia del TC en pacientes del Hospital de Odontología Infantil (HOI) "Don Benito Quinquela Martín" de Buenos Aires, Argentina. Asimismo, comprender, con respecto a su etiología, si existe alguna relación con el origen étnico de la familia. Para ello se incorporó la variable nacionalidad de los padres para examinar el posible vínculo entre la presencia del TC y la procedencia étnica del paciente.Materiales y Métodos: Se evaluó una muestra de 363 niños que ingresaron por primera vez al Servicio de Clínica y Orientación del HOI durante el período comprendido entre agosto 2019 y marzo 2020.Resultados: La prevalencia del TC observada fue del 34 %, por lo menos en alguna de las piezas dentarias, con una mayor tendencia en el sexo masculino en un 55%, y un 45% en el sexo femenino.Conclusiones: La hipótesis propuesta fue que la prevalencia del TC en los pacientes que acuden al del HOI es inferior al 50 % y fue validada debido a que el 34% de los pacientes presentan el TC.
Introdução: As anomalias de forma em meninos e meninas são bastante frequentes, por isso seu estudo é importante para especificar diagnósticos, pois podem ter diferentes implicações odontológicas. Na altura da cúspide mesiopalatina dos segundos molares superiores temporários, primeiros molares superiores permanentes e, menos frequentemente, nos segundos molares superiores permanentes, é possível reconhecer uma cúspide ou tubérculo acessório, denominado Carabelli (TC). Objetivos: Determinar a prevalência de TC em pacientes do Hospital de Odontologia Infantil "Don Benito Quinquela Martín" (HOI) de Buenos Aires, Argentina. Materiais e métodos: Uma amostra de 363 crianças entre dois e quinze anos de idade foi avaliada por inspeção visual direta realizada com instrumentos de exploração, considerando admissões, na Clínica HOI e Serviço de Orientação durante o período abrangido. agosto de 2019 e março de 2020. Resultados: 34% dos pacientes apresentaram TC em um dos dentes, com maior tendência para o sexo masculino em 55%. Conclusões: Embora a prevalência de DC nos pacientes que compareceram ao HOI tenha sido inferior a 50%, ter observado o traço em 34% sugere a importância de sua detecção precoce, pois é fundamental informar ao paciente que o traço o acompanhará durante todo o sua vida e exige maior higiene bucal. Além disso, avise ao paciente que a cúspide não está relacionada a uma doença, mas corresponde à herança genética
Introduction: Shape abnormalities in children are recurrent, so their study is important to make an accurate diagnosis because they can have several dental implications. This anatomical structure is generally found on the mesial palatal side of the tooth, just below the mesial palatal cusp, specifically on the upper first deciduous molars, less frequently in the upper second permanent molars, it is possible to recognize an accessory cusp or a tubercle identified as Carabelli. Aim: To determine the prevalence of the Carabelli Ìs tubercle (CT) in patients of the Clinical Service and Orientation from the Quinquela Martín Hospital of Pediatric dentistry (HOI) Government of Buenos Aires City- Aires, Argentina. Materials and methods: A sample of 363 children, between two and fifteen years of age, was evaluated by direct visual inspection carried out with exploration instruments, taking into account admissions and readmissions, to the HOI Clinic and Orientation Service during the period covered between August 2019 and March 2020. Results: The prevalence of CT observed was 34% in at least some teeth, with a greater tendency in the male gender of 55% and 45% in the female. Conclusions: Although the prevalence of CT in patients who attended the HOI was less than 50%, having observed the trait in 34% suggests the importance of its early detection, since it is essential to inform the patient that the trait it will accompany you throughout his life and requires effective oral hygiene. Also, warn the patient that the cusp is not related to a disease, but corresponds to genetic inheritance.
Sujets)
Humains , Mâle , Femelle , Enfant , Malformations dentaires , Hygiène buccodentaire , Pédodontie , Canine , MolaireRésumé
Aim: Dental number anomalies are a group of congenital developmental disorders divided into two groups supernumerary and missing teeth. This study was conducted to investigate the prevalence of numeric dental anomalies using panoramic images in patients referred to the Hamadan Dental Faculty. Methods: In this cross-sectional study, 2,197 panoramic radiographs of patients aged 6-49 years were evaluated. These anomalies are divided into two groups: 1) Supernumerary teeth, including Mesiodens, Distodens, and Peridens, and 2) Missing teeth, including Hypodontia, Oligodontia, and Anodontia. A Chi-square test was performed to assess the relationship between the anomalies. Data analysis was performed using SPSS 16, in which P-value < 0.05 was considered the statistical significance level. Results: Of 736 males (32.2%) and 1548 females (67.8%) in this study, 32 (4.3%) and 55 cases (3.8%) had supernumerary teeth, respectively. The prevalence of supernumerary teeth was 0.3%, 0.5%, and 0.6% in males and 0.2%, 1% and 1.2% in females for mesiodens, distodens, and peridens, respectively. Also, 243 males (10.6%) and 655 females (28.6%) had missing teeth anomalies. Hypodontia in the maxilla was the most common anomaly in both genders, while mesiodens was the least common. Conclusion: Hypodontia was the most common anomaly, followed by peridens; the least common anomaly was mesiodens. The prevalence of supernumerary teeth was greater in males, though the difference was not statistically significant. In comparison, females had a greater prevalence of missing teeth
Sujets)
Humains , Mâle , Femelle , Enfant , Adolescent , Adulte , Adulte d'âge moyen , Malformations dentaires/épidémiologie , Radiographie panoramique , AnodontieRésumé
Aim: To determine the prevalence of dental development anomalies and type of influence on the smile of adolescent students. Method: This was a cross-sectional and analytical study carried out in two public (A1) and two private (A2) schools chosen by lot in the city of Parnaíba-Piauí. The sample calculation was based on the target population: number of people enrolled in public and private schools between 15 and 19 years, in the city of Parnaíba-PI, which totaled 6209 students in 2020, according to a survey carried out by the Brazilian Institute of Geography and Statistics IBGE. A questionnaire on epidemiological data and aesthetic self-perception of the smile was applied to 160 adolescents between 15 and 19 years old, from August 2020 to July 2021. The clinical examination was carried out under natural light, to check for the presence of anomaly(s) in the dental development. Students who presented only one pathology would be called group 1 (G1), those who presented two would be called group 2 (G2) and those who presented 3 or more would be called group 3 (G3). On the other hand, adolescents in whom no anomaly was evidenced would participate in the control group (CG), both in A1 and A2. Results: It was observed that 37.5% of the sample had only a type of dental anomaly, corresponding to 60 individuals. The most prevalent were enamel hypoplasia, fusion, transposition, agenesis, ectopic eruption, microdent and dens-in-dent. It was possible to verify a higher prevalence in the maxilla, private schools (76.6%) and females (86.6%). In 45% of adolescents with dental anomalies, embarrassment was observed when smiling. Conclusion: The prevalence was relatively high, highlighting the enamel hypoplasia, influencing the smile esthetics of a reasonable number of adolescents, whether for acquaintances, strangers or even for photographs
Sujets)
Humains , Mâle , Femelle , Adolescent , Adulte , Sourire , Malformations dentaires/épidémiologie , Études transversales , Enquêtes et questionnaires , Émail dentaire/malformations , Diagnostic buccal , Dentisterie esthétiqueRésumé
Objetivo: Describir la frecuencia y localización de pato- logías y anomalías dentarias (anomalías de número, tumores, quistes y piezas retenidas) observadas en radiografías pa- norámicas de pacientes pediátricos de entre 6 y 15 años del Hospital Zonal Especializado en Odontología Infantil "Dr. A. Bollini" de la ciudad de La Plata. Materiales y métodos: Se realizó un estudio observa- cional descriptivo de 300 radiografías panorámicas, de niños (n=150) y niñas (n=150) de entre 6 y 15 años, seleccionadas aleatoriamente en el área de radiología del hospital, tomadas en el período comprendido entre marzo de 2018 y marzo de 2020. Los datos obtenidos se volcaron en planillas de cálculo y con ellos se realizó un análisis estadístico descriptivo. Se utilizaron las siguientes variables: edad, sexo, tipo de ano- malía o patología (anomalías de número, tumores, quistes y piezas retenidas), pieza dentaria y ubicación (maxilar o man- díbula). Resultados: Dentro de las anomalías registradas (n=147), se encontraron en mayor medida piezas dentarias retenidas, en un 44,22% de los casos (n=65), agenesias en un 42,18% de los casos (n=62) y supernumerarios en un 13,61% de los casos (n=20). No se hallaron quistes ni tumores. Conclusión: En un 24% de las radiografías panorámicas de niños entre 6 y 15 años se halló alguna anomalía dentaria. Las anomalías más frecuentes fueron piezas dentarias reteni- das y agenesias (AU)
Aim: To describe the frequency and location of dental pathologies and anomalies (number anomalies, tumors, cysts and retained dental pieces) observed in panoramic radio- graphs of pediatric patients between 6 and 15 years of age from the Hospital Especializado en Odontología Infantil "Dr. A. Bollini" from the city of La Plata. Materials and methods: A descriptive observational study was performed based on 300 panoramic radiographs of children (150 girls and 150 boys) between 6 and 15 years old, randomly selected in the Radiology area of the hospital, taken in the period between March 2018 and March 2020. The data obtained were entered into spreadsheets and a descriptive sta- tistical analysis was carried out. The following variables were evaluated: age, sex, type of anomaly or pathology (anomalies of number, tumor, cysts and retained dental pieces), dental piece and location (maxilla or mandible). Results: Among the registered anomalies (n=147), re- tained dental pieces were found to a greater extent, in 44.22% of the cases (n=65), agenesis in 42.18% of the cases (n=62) and supernumeraries in 13.61% of the cases (n=20). No cysts or tumors were found. Conclusion: In 24% of panoramic radiographs of chil- dren between 6 and 15 years old, some dental anomaly was found. The most frequent anomalies were retained dental pieces and agenesis (AU)
Sujets)
Humains , Mâle , Femelle , Enfant , Adolescent , Malformations dentaires/classification , Malformations dentaires/épidémiologie , Radiographie panoramique/méthodes , Dent enclavée/épidémiologie , Épidémiologie Descriptive , Études transversales , Service hospitalier d'odontologie/statistiques et données numériques , Étude d'observation , Anodontie/épidémiologieRésumé
Introducción: la agenesia dental no sindrómica (ADNS) genera efec- tos negativos en la salud oral y psicosocial de los seres humanos. El determinante genético desempeña un papel importante en su desarrollo. Objetivo: determinar la frecuencia de los polimorfismos rs104893850 de MSX1 y rs28933373 de PAX9 en pacientes de seis a 18 años con ADNS. Material y métodos: estudio transversal prolectivo en el cual se revisaron individuos de seis a 18 años sin defectos congénitos y originarios del estado de Durango. Después de haber obtenido su con- sentimiento para formar parte del estudio, se estableció el diagnóstico de ADNS a través de una inspección clínica odontológica y un examen radiográfico. Se tomó una muestra de sangre capilar para la genotipi- ficación de los polimorfismos a través de la técnica de qPCR-HRM. Resultados: de un total de 124 individuos, 77 (62%) mujeres y 47 (38%) hombres; sólo 39 presentaron ADNS. En el análisis polimórfico de rs104893850 de MSX1 y rs28933373 de PAX9 se obtuvo 94.9% y 84.6% respectivamente de homocigotos mutados. Conclusiones: se obtuvo una alta frecuencia de hipodoncia, el diente que mostró más agenesia fue el órgano dentario 18. Las mutaciones polimórficas están presentes en una alta proporción de agenesia dental (AU)
Introduction: non-syndromic dental agenesis (NSDA) generates negative oral health and psychosocial effects in humans. The genetic determinant plays an important role in its development. Objective: to determine the frequency of MSX1 rs104893850 and PAX9 rs28933373 polymorphisms in patients aged 6 to 18 years with NSDA. Material and methods: prolective cross-sectional study, in which individuals aged 6 to 18 years without congenital defects and from the city of Durango were reviewed. After obtaining their consent to be part of the study, the diagnosis of NSDA was established through a clinical dental inspection, a radiographic examination and a capillary blood sample was taken for the genotyping of the polymorphisms through the qPCR-HRM technique. Results: out of a total of 124 individuals, 77 (62%) females and 47 (38%) males; only 39 presented ADNS. In the polymorphic analysis of rs104893850 of MSX1 and rs28933373 of PAX9 we obtained 94.9% and 84.6% respectively of mutated homozygotes. Conclusions: a high frequency of hypodontia was obtained, and the tooth that presented the most agenesis was dental organ 18. Polymorphic mutations are present in a high proportion for dental agenesis (AU)
Sujets)
Humains , Mâle , Femelle , Enfant d'âge préscolaire , Enfant , Adolescent , Polymorphisme génétique , Malformations dentaires/génétique , Anodontie/génétique , Odontogenèse/génétique , École dentaire , Réaction de polymérisation en chaîne/méthodes , Épidémiologie Descriptive , Études transversales , Anodontie/imagerie diagnostique , MexiqueRésumé
Introduction: Ectodermal dysplasia is a rare genetic disorder that affects structures derived from ectoderm such as teeth, hair, nails, and sweat glands. Oligodontia is a common finding that affects the chewing, smiling and self- esteem of these pediatric patients. Case Report: We present a case report of a 7-years-old pediatric patient who consulted with his mother, showing the same condition. The intervention consisted of a removable prosthesis with satisfactory results. Conclusion: The X-linked hypohidrotic ectodermal dysplasia represents a challenge for a pediatric dentist who offers rehabilitation to the patient according to craniofacial development, age, socioeconomic status, and the number of missing teeth.
Introducción: La oligodoncia es un hallazgo común que afecta la masticación, la sonrisa y la autoestima de estos pacientes pediátricos. Case Report: Presentamos un reporte de caso de un paciente pediátrico de 7 años que consultó con su madre presentando la misma condición. La intervención consistió en una prótesis de remoción con resultados satisfactorios. Conclusión: La displasia ectodérmica hipohidrótica ligada al cromosoma X representa un desafío para un odontopediatra que ofrece rehabilitación al paciente de acuerdo con el desarrollo craneofacial, la edad, el nivel socioeconómico y el número de dientes faltantes.
Sujets)
Humains , Mâle , Enfant , Malformations dentaires/thérapie , Prothèses dentaires/méthodes , Dysplasie ectodermique anhidrotique de type 1/thérapie , Anodontie/thérapie , Qualité de vie , Résultat thérapeutique , Prothèse dentaire partielle amovibleRésumé
Objetivo: El odontoma es una lesión hamartomatosa benigna formada por tejido dentario (cemento, esmalte, pul pa). Según su grado de diferenciación podrá ser clasificado en sus dos variantes: compuesto y complejo en una relación 2:1. El objetivo de este artículo es presentar un odontoma mixto de gran tamaño de localización mandibular y su resolución quirúrgica. Caso clínico: Se describe el caso de un paciente mascu lino de 16 años de edad, portador de ortodoncia, que presenta un odontoma mixto de gran tamaño de localización mandibular y su resolución quirúrgica utilizando planificación 3D y confección de placa de titanio customizada (AU)
Aim: Odontoma is a benign hamartomatous lesion formed by dental tissue (cementum, enamel, pulp). According to its degree of differentiation, it can be classified in its two variants: compound and complex in a 2:1 ratio. The objective of this article is to present a large mixed odontoma of mandi bular location and its surgical resolution. Clinical case: A 16-year-old male patient with ortho dontics, who presents a large mixed odontoma with mandibu lar location and its surgical resolution using 3D planning and customized titanium plate fabrication (AU)
Sujets)
Humains , Mâle , Adolescent , Malformations dentaires/classification , Tumeurs odontogènes/classification , Odontome/chirurgie , Mandibule/anatomopathologie , Planification des soins du patient , Argentine , Procédures de chirurgie préprothétique en odontologie/méthodes , Imagerie tridimensionnelle/méthodes , Service hospitalier d'odontologie , Matériels de fixation chirurgicale , Malocclusion de classe III/thérapieRésumé
RESUMEN Fundamento: Dentro de las anomalías de la oclusión que provocan afectación estética y funcional en los pacientes, se destaca el síndrome de clase III esqueletal de Moyers, cuyo diagnóstico debe ser preciso y precoz. Objetivo: Cuantificar la concordancia entre los criterios diagnósticos ortodóncicos y médicos en los portadores del síndrome de clase III esquelético de Moyers. Metodología: Se realizó un estudio observacional, descriptivo y transversal en la Clínica Estomatológica Provincial Docente "Mártires del Moncada" de Santiago de Cuba desde enero de 2018 hasta enero de 2020. Se estudiaron, por Ortodoncia y diferentes especialidades médicas seleccionadas, 15 pacientes de 8 a 18 años de edad diagnosticados clínica y cefalométricamente con clase III esqueletal de Moyers. Resultados: El nivel de acuerdo entre ortodoncia y las diferentes especialidades médicas fue leve con Oftalmología (Kappa=0.10), casi perfecta con Ortopedia (Kappa=1.00), pobre por Gastroenterología y por Otorrinolaringología (Kappa de 0.09 y 0.10 respectivamente), resultados estadísticamente significativos solo con Ortopedia. Conclusiones: Es evidente la marcada concordancia entre los diagnósticos ortodóncicos y ortopédicos en el síndrome de clase III esquelético, a diferencia del resto de las especialidades médicas; probablemente asociado a la no estandarización de las evaluaciones clínicas.
ABSTRACT Background: Among the occlusion anomalies that cause esthetic and functional affectation in patients, Moyers skeletal class III syndrome stands out, its diagnosis should be accurate and early. Objective: To quantify the concordance between orthodontic and medical diagnostic criteria in patients with Moyers skeletal class III syndrome. Methodology: An observational, descriptive and cross-sectional study was conducted at the "Mártires del Moncada" Provincial Teaching Dental Care Clinic of Santiago de Cuba from January 2018 to January 2020. 15 patients aged 8 to 18 years clinically and cephalometrically diagnosed with Moyers skeletal class III were studied by Orthodontics and different selected medical specialties. Results: The level of agreement between Orthodontics and the different medical specialties was slight for Ophthalmology (Kappa=0.10), almost perfect for Orthopedics (Kappa=1.00), poor for Gastroenterology and Otolaryngology (Kappa of 0.09 and 0.10 respectively), statistically significant results only for Orthopedics. Conclusions: The manifest concordance between orthodontic and orthopedic diagnoses in skeletal class III syndrome is evident, unlike the rest of the medical specialties; probably associated with non-standard clinical evaluations.
Sujets)
Orthodontie , Malformations dentaires/diagnostic , Malformations de la mâchoire , Malocclusion de classe IIIRésumé
RESUMEN Los odontomas son los tumores más frecuentes del área bucal y maxilofacial. Presentamos un caso clínico de una paciente femenina de 50 años, con cuadros de sinusitis a repetición y dolor en región maxilar derecha. Se le realiza tomografía axial computarizada simple de macizo facial, donde se observó una imagen amorfa de densidad variable a nivel del hueso maxilar derecho, que involucraba la porción inferior del seno, compatible con tumor odontogénico, probablemente benigno, sugestiva de un odontoma complejo.
ABSTRACT Odontomas are the most common tumours located in the oral and maxillofacial region. We present a 50-year-old female patient with recurrent sinusitis and pain in the right maxillary region. A simple computed axial tomography of the facial mass was performed, where an amorphous image of variable density was observed at the level of the right maxillary bone, involving the lower portion of the sinus, compatible with an odontogenic tumour, probably benign and suggestive of a complex odontoma.