RESUMO
INTRODUCTION: Ellis-van Creveld (EVC) syndrome is an autosomal recessive disorder predominantly characterized by a disproportionate dwarfism, ectodermal dysplasia, postaxial polydactyly, and congenital heart malformations and pulmonary hypoplasia. OBJECTIVE: In this article, we hereby present a case of a 6-year-old Brazilian boy with EVC syndrome who presented a rare oral lesion as well as a remarkable number of classical and uncommon oral and dental features. CASE REPORT: Clinical and radiographic examination revealed multiple enamel hypoplasia, teeth agenesis, conical teeth, lower canine rotation, bilateral posterior crossbite, taurodontism of deciduous and permanent molars and delayed tooth eruption, dental caries, and absent vestibular sulcus. Additionally, a whitish lobulated nodule located in the alveolar ridge in the anterior region of the mandible was noted. Anatomopathological examination was compatible with the diagnosis of peripheral odontogenic fibroma (POF). In a 10-month clinical follow-up, no signs of recurrence were observed. CONCLUSION: In view of the characteristic oral findings of EVC syndrome and the potential for recurrence of POF, the pediatric dentist plays an essential role in clinical follow-up, planning and preventive, and rehabilitative treatment.
Assuntos
Cárie Dentária , Síndrome de Ellis-Van Creveld , Fibroma , Anormalidades Dentárias , Masculino , Criança , Humanos , Síndrome de Ellis-Van Creveld/complicações , Síndrome de Ellis-Van Creveld/diagnóstico , Anormalidades Dentárias/diagnóstico por imagem , Anormalidades Dentárias/etiologia , Cavidade Pulpar , Fibroma/complicaçõesRESUMO
ABSTRACT Objective: To evaluate the systemic factors associated with Molar-Incisor Hypomineralization (MIH) etiology. Material and Methods: A total of 731 8-year-old schoolchildren enrolled in the public school system in Curitiba, Brazil, was randomly selected. The MIH diagnosis was performed by calibrated examiners (Kappa >0.80) according to the European Academy of Pediatric Dentistry criteria (2003). The systemic factors were collected through a semi-structured questionnaire and applied to the children's mothers, addressing the medical history from pregnancy to the first three years of children's life. Associations were analyzed by Poisson regression analysis with robust variance (p<0.05). Results: The systemic factors in the prenatal and perinatal periods were not associated with MIH (p>0.05). The children who used medications during the first years of life had a significantly higher prevalence of MIH (PRc = 2.18 CI = 95% 1.06-4.48; p=0.033). Conclusion: The use of medications during the first three years of children's life is associated with a higher prevalence of MIH.
Assuntos
Humanos , Masculino , Feminino , Criança , Anormalidades Dentárias/etiologia , Epidemiologia , Desmineralização do Dente , Hipoplasia do Esmalte Dentário/etiologia , Dente Molar/anormalidades , Inquéritos e Questionários , Análise de RegressãoRESUMO
The aim of this study was to evaluate the oral, dental, and craniofacial features of individuals affected by the chronic forms of acid sphingomyelinase deficiency (ASMD). This study comprised a sample of adult and pediatric patients (n = 8) with chronic ASMD. The individuals underwent oral examinations to evaluate the occurrence of caries, as well as full-mouth periodontal examinations, to assess the occurrence and severity of periodontal diseases. Panoramic and profile radiographs were obtained to analyze dental conditions and craniofacial parameters. Participants also answered questionnaires to identify systemic impairment, parafunctional habits, and bruxism. Dental anomalies of size, shape, and number were found, with agenesis and microdontia being the predominant findings. The average of caries experience was 11.75 (±8.1). Only one patient had periodontal health and all adult individuals had periodontitis at different stages and degrees. Bruxism was found in 87.5% of the sample. The convex profile and maxillary and mandibular retrusion were the most relevant findings in the cephalometric analysis. It is concluded that individuals with chronic ASMD, in addition to several systemic manifestations, present significant modifications in their oral health, from a greater occurrence of dental anomalies, caries, periodontal disease, in addition to skeletal changes.
Assuntos
Bruxismo/patologia , Anormalidades Craniofaciais/patologia , Doenças da Boca/patologia , Doença de Niemann-Pick Tipo B/complicações , Doenças Periodontais/patologia , Esfingomielina Fosfodiesterase/deficiência , Anormalidades Dentárias/patologia , Adolescente , Adulto , Bruxismo/etiologia , Criança , Anormalidades Craniofaciais/etiologia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Doenças da Boca/etiologia , Doença de Niemann-Pick Tipo B/enzimologia , Doenças Periodontais/etiologia , Prognóstico , Anormalidades Dentárias/etiologia , Adulto JovemRESUMO
OBJECTIVE: To investigate the clinical, imaging and pathological features of congenital infiltrating lipomatosis of the face (CILF) and to discuss whether it is a subtype of hemifacial hyperplasia (HH). METHODS: Sixteen patients diagnosed with CILF were included in this study. All patients had undergone panoramic radiography and spiral CT examinations. Thirteen patients received biopsy, surgery treatment and pathological examination. The clinical documentation and imaging data were retrospectively reviewed. RESULTS: The cheeks (14/16), parotid glands (12/16), tongues (9/16), masticatory muscles (8/16) and the lips (7/16) were the most frequently affected soft tissue organs. The maxilla (14/16), zygoma (13/16), mandible (13/16) were involved among the maxillofacial bones. Dental malformations included macrodontia (8/16), poor formation of the roots (7/16), accelerated tooth germ development or premature eruption of permanent teeth (7/16) and missing of the permanent teeth (4/16). All malformations were restricted to one side of the face and did not trespass the middle line. Pathologically, CILF was featured by the diffuse infiltration of redundant mature adipose tissue into the tissue of the affected organ. CONCLUSION: CILF is a congenital developmental facial malformation characterized by infiltration of nonencapsulated, mature adipose tissue, resulting in facial soft and hard tissue hypertrophy and dental malformations in hemifacial structures. CILF could be considered as a subtype of HH.
Assuntos
Face/anormalidades , Face/cirurgia , Assimetria Facial/congênito , Hiperplasia/etiologia , Lipomatose/congênito , Lipomatose/diagnóstico por imagem , Adolescente , Adulto , Criança , Pré-Escolar , Face/diagnóstico por imagem , Assimetria Facial/diagnóstico por imagem , Assimetria Facial/etiologia , Assimetria Facial/cirurgia , Feminino , Humanos , Hiperplasia/diagnóstico por imagem , Hiperplasia/cirurgia , Lipomatose/cirurgia , Masculino , Radiografia Panorâmica , Estudos Retrospectivos , Tomografia Computadorizada Espiral , Anormalidades Dentárias/diagnóstico por imagem , Anormalidades Dentárias/etiologia , Adulto JovemRESUMO
Each year, millions of children are injured and live with the consequences of those injuries. Through infancy and childhood, orofacial trauma caused by falls or being struck by or against objects occurs in children. The long-term implications on the developing permanent teeth are little known, even when the oral region is the second most frequently injured body area in children under 6 years of age. During this period, the developing permanent teeth may be directly involved after trauma, causing mild to severe hypoplasia, displacement, damage to the tooth germ, or an extended range of morphofunctional disturbances. In some cases, the effects of oral and dental injuries caused by trauma appear later with the eruption of the permanent incisors when ectopic eruption, malalignments, and other developmental disturbances become visible. Therefore, long-term follow up of the patient in order to diagnose and treat associated complications becomes essential. Critical points for facing the consequences of orofacial trauma on the developing dentition are to recognize the impact of orofacial trauma in young children and the dentist's role in providing anticipatory guidance to parents and health care professionals, differentiate between mild and severe disturbances affecting the developing permanent teeth after oral injuries in early childhood, recognize the importance of follow-up controls, and recognize the importance of early referral to a pediatric dentist and orthodontist for diagnosis and treatment planning.
Assuntos
Dentição Permanente , Anormalidades Dentárias , Avulsão Dentária , Dente Decíduo/lesões , Criança , Pré-Escolar , Hipoplasia do Esmalte Dentário/epidemiologia , Dentição , Humanos , Incisivo/lesões , Anormalidades Dentárias/epidemiologia , Anormalidades Dentárias/etiologia , Avulsão Dentária/epidemiologia , Avulsão Dentária/etiologia , Fraturas dos Dentes/epidemiologia , Raiz Dentária/lesõesRESUMO
Introdução: Pacientes com anomalias dentomaxilofaciais do sistema estomatognático frequentemente experimentam disfunção da articulação temporomandibular, além do exame clínico existem índices que permitem determinar o grau de disfunção. Objetivo: Identificar o grau de disfunção da articulação temporomandibular em pacientes com anomalias dentomaxilofaciais. Métodos: Estudo transversal, descritivo, observacional foi feito com 121 pacientes atendidos na clínica ortodôntica da Clínica Universitária de Especialidades Estomatológicas Manuel Cedeño, no período de maio de 2016 a março de 2018. As variáveis; a serem estudadas foram idade, sexo e grau de disfunção da articulação temporomandibular. Foi aplicado o índice de Maglione et al. Resultados: Pacientes com anomalias dentomaxilofaciais apresentaram um grau leve de disfunção em 71,90 percent da população total; disfunção da articulação temporomandibular esteve presente em 72,58 percent na faixa etária de 18 a 20 anos e no sexo feminino com 61,98 percent. Conclusão: Disfunção temporomandibular leve prevaleceu em pacientes com anomalias dentomaxilofaciais(AU)
Introducción: Los pacientes con anomalías dentomaxilofaciales del sistema estomatognático a menudo experimentan disfunción de la articulación temporomandibular. Además del examen clínico existen índices que permiten determinar el grado de disfunción. Objetivo: Identificar el grado de disfunción de la articulación temporomandibular en pacientes con anomalías dentomaxilofaciales. Métodos: Se realizó un estudio observacional descriptivo de corte transversal con 121 pacientes atendidos en la consulta de Ortodoncia de la Clínica Universitaria de Especialidades Estomatológicas Manuel Cedeño, de mayo de 2016 a marzo de 2018. Las variables a estudiar fueron la edad, sexo y grado de disfunción de la articulación temporomandibular. Se aplicó el índice de Maglione et al. Resultados: Los pacientes con anomalías dentomaxilofaciales tuvieron un grado de disfunción leve en 71,90 por ciento de la población total. La disfunción de la articulación temporomandibular se presentó en 72,58 por ciento del grupo etario de 18 a 20 años y en el sexo femenino, con 61,98 por ciento. Conclusiones: La disfunción de la articulación temporomandibular leve prevaleció en los pacientes con anomalías dentomaxilofaciales(AU)
Introduction: Patients with dentomaxillofacial anomalies of the stomatognathic system often experience temporomandibular joint dysfunction. Besides clinical examination, indices such as Maglione and collaborators' allow to determine the degree of dysfunction. Objective: Identify the degree of temporomandibular joint dysfunction in patients with dentomaxillofacial anomalies. Methods: A cross-sectional observational descriptive study was conducted of 121 patients attending the Orthodontics Service at Manuel Cedeño Dental Specialties University Clinic from May 2016 to March 2018. The variables analyzed were age, sex and degree of temporomandibular joint dysfunction. Use was made of the Maglione and collaborators' index. Results: Patients with dentomaxillofacial anomalies had a mild degree of dysfunction in 71.90 percent of the total population. Temporomandibular joint dysfunction was present in 72.58 percent of the 18-20 years age group and in the female sex, with 61.98 percent. Conclusions: Mild temporomandibular joint dysfunction prevailed in patients with dentomaxillofacial anomalies(AU)
Assuntos
Humanos , Feminino , Adulto , Adulto Jovem , Anormalidades Dentárias/etiologia , Síndrome da Disfunção da Articulação Temporomandibular/epidemiologia , Anormalidades Maxilomandibulares/epidemiologia , Epidemiologia Descritiva , Estudos Transversais , Estudo ObservacionalRESUMO
BACKGROUND: KBG syndrome is a very rare autosomal dominant disorder, characterized by macrodontia, distinctive craniofacial findings, skeletal findings, post-natal short stature, and developmental delays, sometimes associated with seizures and EEG abnormalities. So far, there have been over 100 cases of KBG syndrome reported. CASE PRESENTATION: Here, we describe two sisters of a non-consanguineous family, both presenting generalized epilepsy with febrile seizures (GEFS+), and one with a more complex phenotype associated with mild intellectual disability, skeletal and dental anomalies. Whole exome sequencing (WES) analysis in all the family members revealed a heterozygous SCN9A mutation, p.(Lys655Arg), shared among the father and the two probands, and a novel de novo loss of function mutation in the ANKRD11 gene, p.(Tyr1715*), in the proband with the more complex phenotype. The reassessment of the phenotypic features confirmed that the patient fulfilled the proposed diagnostic criteria for KBG syndrome, although complicated by early-onset isolated febrile seizures. EEG abnormalities with or without seizures have been reported previously in some KBG cases. The shared variant, occurring in SCN9A, has been previously found in several individuals with GEFS+ and Dravet syndrome. CONCLUSIONS: This report describe a novel de novo variant in ANKRD11 causing a mild phenotype of KGB syndrome and further supports the association of monogenic pattern of SCN9A mutations with GEFS+. Our data expand the allelic spectrum of ANKRD11 mutations, providing the first Brazilian case of KBG syndrome. Furthermore, this study offers an example of how WES has been instrumental allowing us to better dissect the clinical phenotype under study, which is a multilocus variation aggregating in one proband, rather than a phenotypic expansion associated with a single genomic locus, underscoring the role of multiple rare variants at different loci in the etiology of clinical phenotypes making problematic the diagnostic path. The successful identification of the causal variant in a gene may not be sufficient, making it necessary to identify other variants that fully explain the clinical picture. The prevalence of blended phenotypes from multiple monogenic disorders is currently unknown and will require a systematic re-analysis of large WES datasets for proper diagnosis in daily practice.
Assuntos
Anormalidades Múltiplas/genética , Doenças do Desenvolvimento Ósseo/genética , Epilepsia Generalizada/genética , Estudos de Associação Genética , Predisposição Genética para Doença , Deficiência Intelectual/genética , Mutação , Fenótipo , Proteínas Repressoras/genética , Convulsões Febris/genética , Anormalidades Dentárias/genética , Anormalidades Múltiplas/diagnóstico por imagem , Anormalidades Múltiplas/etiologia , Anormalidades Múltiplas/fisiopatologia , Adolescente , Alelos , Doenças do Desenvolvimento Ósseo/diagnóstico por imagem , Doenças do Desenvolvimento Ósseo/etiologia , Doenças do Desenvolvimento Ósseo/fisiopatologia , Brasil , Eletroencefalografia , Epilepsia Generalizada/fisiopatologia , Fácies , Feminino , Loci Gênicos , Heterozigoto , Humanos , Deficiência Intelectual/diagnóstico por imagem , Deficiência Intelectual/etiologia , Deficiência Intelectual/fisiopatologia , Canal de Sódio Disparado por Voltagem NAV1.7/genética , Linhagem , Convulsões Febris/fisiopatologia , Anormalidades Dentárias/diagnóstico por imagem , Anormalidades Dentárias/etiologia , Anormalidades Dentárias/fisiopatologia , Sequenciamento do ExomaRESUMO
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
BACKGROUND/AIMS: Dental trauma to the predecessor teeth can cause crown and root dilacerations to the successor teeth, which can interfere with the normal development of permanent teeth. The aims of this study were to verify the types of trauma more frequent to the predecessor teeth that cause dilaceration to their successor teeth, to determine the frequency of crown and root dilacerations in permanent incisors, taking into account the child's age at the time of trauma, and to describe the types of treatment performed. MATERIALS AND METHODS: Details of 815 anterior primary teeth with dental injury were obtained from 483 dental records of children aged 0-9 years at the time of trauma. RESULTS: Of 815 traumatized primary teeth, 161 successor teeth were clinically and radiographically reviewed until complete eruption and had some type of sequel. Avulsion and intrusive luxation were the most frequent types of trauma to the predecessor teeth that caused dilaceration to their successor teeth. Enamel discoloration (30.4%), hypoplasia (23.6%), root (14.3%) and crown (9.9%) dilacerations were the most common sequelae observed in the successor teeth. Root and crown dilacerations were more frequent in children aged more than and up to 3 years, respectively. Tooth extraction and orthodontic treatment were the most common treatments. CONCLUSIONS: Dentists must be aware of the relationship between the child's age at the time of trauma to the predecessor tooth and the type of sequel to the successor tooth in order to diagnose, monitor, and treat the sequel properly.
Assuntos
Incisivo/anormalidades , Incisivo/lesões , Anormalidades Dentárias/etiologia , Avulsão Dentária/complicações , Coroa do Dente/anormalidades , Raiz Dentária/anormalidades , Raiz Dentária/lesões , Dente Decíduo/lesões , Criança , Pré-Escolar , Dentição Permanente , Feminino , Humanos , Lactente , MasculinoRESUMO
OBJECTIVE: Tooth morphology can vary due to genetic factors, infectious diseases and other environmental stresses. Congenital syphilis is known to interrupt tooth formation i.e. odontogenesis and amelogenesis, producing specific dental characteristics. Variation of those characteristics can occur, resulting in dental signs "not typical" of the disease, however, they are described in the 19th century literature. Past treatments of congenital syphilis with mercury also interrupted dental processes resulting in significantly different dental signs. The aim of this study is to examine the dentition of the oldest (pre 15th century) cases attributed to congenital syphilis to determine whether their dental processes have been affected by either congenital syphilis itself, its treatments (mercury) or a combination of both (syphilitic-mercurial). DESIGN: Comparisons of dental signs of congenital syphilis and its mercuric treatments as described by Hutchinson, Moon and Fournier in the 1800s and in standardised methods as established by modern studies, are made with the dentition of specimens found in archaeological sites in Mexico, Italy, Turkey and Austria dating back to the Terminal Formative Period, Classical Antiquity, Byzantine times and Middle Ages. RESULTS: The dentitions of a child from Oaxaca, Mexico, St. Pölten, Austria, and two juveniles from Classical Antiquity site Metaponto, Italy, show signs attributed to syphilis only. One adolescent from Byzantine site Nicaea, Turkey, shows dental signs characterised as syphilitic-mercurial. CONCLUSIONS: Dental abnormalities observed in Mediterranean individuals match a range of signs attributable to congenital syphilis and its treatments, more so than the New World case. Therefore, it is likely that these individuals suffered from congenital syphilis.