Are Environmental Factors Effective in Congenitally Missing Teeth? A Multicenter Study

Abstract Objective: To examine the prevalence of congenital absence of permanent teeth other than third molar teeth in non-syndromic children in the Black Sea and Mediterranean Regions of Turkey, and the correlation between gender and distribution sites in the jaws. Material and Methods: Panoramic radiographs and clinical records of 9831 children (5025 girls, 4806 boys) in the Mediterranean Region and 11372 children (5540 girls, 5832 boys) in the Black Sea region were examined. All panoramic radiographs were evaluated by a dentist. The permanent tooth, which was not seen in radiography, was recorded as a congenitally missing tooth, and the fact that the tooth was not extracted was confirmed by treatment records. The data were statistically evaluated by Chi-Square and t-test Results: The prevalence of congenitally missing permanent teeth was 2.8% (3.52% in girls, 2.5% in boys) in the Mediterranean region and 1.63% (1.82% in girls and 1.45% in boys) in the Black Sea region. Congenitally missing permanent teeth were observed more in the maxilla compared to mandible. The teeth that most frequently have congenitally missing permanent teeth in the Mediterranean Region are mandibular second premolars, maxillary lateral incisors and maxillary second premolars, respectively. The teeth that most frequently have congenitally missing permanent teeth in the Black Sea region are mandibular second premolars, maxillary second premolars and maxillary lateral incisors, respectively. Most of the patients had one or two teeth missing, and the lack of three or more teeth was rare Conclusion: In this study, which is performed in different climatic characteristics of Black Sea and Mediterranean Regions, the frequency of congenitally missing teeth is similar.

"Maxillary lateral incisor partial anodontia sequence": a clinical entity with epigenetic origin

ABSTRACT The relationship between maxillary lateral incisor anodontia and the palatal displacement of unerupted maxillary canines cannot be considered as a multiple tooth abnormality with defined genetic etiology in order to be regarded as a "syndrome". Neither were the involved genes identified and located in the human genome, nor was it presumed on which chromosome the responsible gene would be located. The palatal maxillary canine displacement in cases of partial anodontia of the maxillary lateral incisor is potentially associated with environmental changes caused by its absence in its place of formation and eruption, which would characterize an epigenetic etiology. The lack of the maxillary lateral incisor in the canine region means removing one of the reference guides for the eruptive trajectory of the maxillary canine, which would therefore, not erupt and /or impact on the palate. Consequently, and in sequence, it would lead to malocclusion, maxillary atresia, transposition, prolonged retention of the deciduous canine and resorption in the neighboring teeth. Thus, we can say that we are dealing with a set of anomalies and multiple sequential changes known as sequential development anomalies or, simply, sequence. Once the epigenetics and sequential condition is accepted for this clinical picture, it could be called "Maxillary Lateral Incisor Partial Anodontia Sequence."

RESUMO A relação entre a anodontia parcial do incisivo lateral e o deslocamento palatino do canino superior não irrompido não pode ser considerada uma anomalia dentária múltipla com etiopatogenia genética definida, a ponto de ser considerada como uma "síndrome". Os genes envolvidos sequer foram identificados e localizados no genoma humano, e nem mesmo presumiu-se em qual cromossomo se localizaria o gene responsável. O deslocamento palatino do canino superior em casos de anodontia parcial do incisivo lateral superior está potencialmente associado às mudanças ambientais provocadas pela sua ausência no local de formação e erupção, o que caracterizaria uma etiologia epigenética para essa associação. A falta do incisivo lateral superior na região canina implica em tirar um dos guias referenciais da trajetória eruptiva do canino superior, que ficaria, assim, não irrompido e/ou impactado no palato. Como consequência, e em sequência, promove-se uma má oclusão, atresia maxilar, transposição, retenção prolongada do canino decíduo e reabsorções nos dentes vizinhos. Dessa forma, pode-se afirmar que estamos frente a um conjunto de anomalias e alterações múltiplas sequenciais conhecido como anomalias de desenvolvimento sequencial ou, simplesmente, sequência. Uma vez aceita a condição epigenética e sequencial para esse quadro clínico, ele poderia ser chamado de "Sequência da Anodontia Parcial do Incisivo Lateral Superior".

Facial biotype and mandibular growth adaptation in maxillary lateral incisors agenesis / Biotipo facial y adaptación del crecimiento mandibular en agenesia de los incisivos laterales maxilares

To verify the eventual relationship between maxillary lateral incisor agenesis (MLIA) and one of the clinically established facial biotypes. The analysis was performed in and between 3 groups: individuals with MLIA, their relatives and a control population defined as "normal" or unaffected. Among these, a comparison between adults and growing individuals was also carried out. The dolicofacial biotype was mainly found in children with bilateral agenesis, while the unilateral agenesis as well as the control population of unaffected children showed mainly a mesofacial pattern. The braquiofacial biotype was prevalent in children without agenesis but (family) related to patients with agenesis. This is the case also for all the adults studied, even if the frequency of the braquiofacial is similar to the one attained by the mesofacial biotype when found in unaffected individuals related with agenesis patients. The notable variability found, evidenced by the high values of the standard deviations calculated for each group, makes difficult to definitely establish a positive correlation between the MLIA and one of the facial biotypes with the present data.

El objetivo fue verificar la eventual relación entre la agenesia de los incisivos lLaterales maxilares (AILM) y los biotipos faciales establecidos en clínica. Se realizó un análisis en tres grupos de sujetos: (i) pacientes afectos de AILM, (ii) sus familiares y (iii) una población control no afecta, definida como normal. Entre los grupos también se comparó a los sujetos en periodo de crecimiento con los adultos. El biotipo dolicofacial fue descrito principalmente en niños con agenesias bilaterales, mientras que los pacientes con agenesias unilaterales y la población control presentaban mayoritariamente un patrón mesofacial. El patrón braquifacial fue prevalente en niños no afectos de agenesia pero miembros de la familia de pacientes afectos de agenesia. Lo mismo se observó en todos los pacientes adultos, aunque la prevalencia del biotipo braquifacial resultó similar a la del biotipo mesofacial en pacientes no afectos de agenesia, pero con relación familiar a pacientes afectos. La notable variabilidad en el grupo sometido a estudio, evidente por los elevados valores de DE obtenidos en cada grupo, no permite establecer de manera definitiva una correlación positiva entre la AILM y un biotipo morfológicos facial, al menos con los datos hasta ahora disponibles.

Análise radiográfica de agenesia dentária / Radiographic analysis of tooth agenesis

Introdução: Agenesia é uma anomalia do desenvolvimento dentário frequente no ser humano, e é representada pela ausência de um ou mais dentes, fato relacionado com problemas estéticos e de maloclusão. Objetivo: Investigar a presença de agenesia dental, por meio de radiografias panorâmicas. Materiais e métodos: Foram avaliadas radiografias de pacientes atendidos em três clínicas odontológicas de Presidente Prudente (SP), relacionando a frequência da agenesia com o gênero, quadrantes e grupos dentários afetados. Os critérios de exclusão foram idade e perdas dentais por extrações ou outros motivos. A avaliação das tomadas radiográficas foi executada por dois avaliadores, utilizando negatoscópio em ambiente escuro para possibilitar a análise. Resultados: Foram avaliadas 600 radiografias panorâmicas de pacientes na faixa etária entre 9 e 16 anos. Foram encontrados 171 casos de agenesia; destes, 82 casos foram observados no gênero masculino e 89, no feminino. Quando avaliado o tipo de dente, os terceiros molares apresentaram maior frequência de agenesias (65%), seguido dos segundos pré-molares (5,8%), incisivo lateral (4,8%), primeiro pré-molar e incisivo central (0,6%) em todos os quadrantes, sendo mais frequente no quadrante superior e no gênero feminino. Conclusão: Há prevalência de agenesias no arco superior, com destaque para a do terceiro molar em relação ao de outros dentes. Adicionalmente, sugere-se que o gênero não é um fator predisponente para presença de agenesia.

Introduction: Agenesis is a frequent anomaly of dental development in humans, which is characterized by absence of one or more teeth, and has been related with aesthetic and malocclusion problems. Objective: To investigate the presence of dental agenesis using panoramic radiographs. Materials and methods: Patients radiography of three Dental Clinics of Presidente Prudente, São Paulo State, Brazil, were assessed, and requency of agenesis, gender, and quadrants of dental groups were scored. Exclusion criteria were age and the losses by dental extractions or other reasons. Two reviewers, using negatoscope in a dark room, undertook the analyses of panoramic radiographs. Results: Panoramic radiographs of 600 patients, 9 to 16 years old were evaluated. Agenesis was found in 171 patients, 82 male and 89 female. The third molars had a higher requency of tooth agenesis (65%), followed by the second premolars (5.8%), lateral incisor (4.8%) and one remolar and incisor central (0.6%) on all sides. Agenesis was more frequently found in the upper quadrant and female patients. Conclusion: It was concluded that the agenesis of maxilla and the third molar was the most observed. Additionally it is suggested that gender is not a predisposing factor for the presence of agenesis.

Multiple tooth agenesis in non-syndromic patient: a rare case report / Agenesia múltiple dental en un paciente no-sindrómico: reporte de un caso raro

Dental agenesis is a term referred to the absence of one or more teeth. However, oligodontia is a severe type of tooth agenesis involving six or more congenitally missing teeth, excluding the third molars. Oligodontia has a low prevalence and is a very rare condition. The aim was to show this case report of a 13-year-old female patient who presented oligodontia with absence of eight permanent teeth and condylar atrophy on left side. The patient had no history of any syndrome or systemic disease according to the anamnesis. Is very important to know oligodontia features to perform a carefully treatment plan.

La agenesia dental es un término que se refiere a la ausencia de uno o más dientes. Sin embargo, la oligodoncia es un tipo grave de agenesia dental con ausencia congénita de seis o más dientes, excluyendo los terceros molares. La oligodoncia tiene una prevalencia baja y es una condición muy rara. El objetivo es presentar este reporte de caso de una paciente femenina de 13 años quien presentó oligodoncia con ausencia de ocho dientes permanentes y atrofia condilar en el lado izquierdo. La paciente no presenta historia de padecer algún síndrome o enfermedad sistémica según su anamnesis. Es muy importante de conocer las características de la oligodoncia para llevar a cabo un plan de tratamiento de manera cuidadosa.

Displasia ectodérmica hipohidrótica: un síndrome de interés para la odontología / Hypohidrotic ectodermal dysplasia: a syndrome of interest to dentistry

La displasia ectodérmica hipohidrótica (DEH) es una enfermedad rara de etiología genética. La forma más frecuente es la de herencia recesiva relacionada al cromosomo X con sujetos de sexo masculino afectados y de sexo femenino portadores. Pueden ocurrir a través de mutaciones autosómicas, y en estas, las del gene EDA1 son responsables por la mayoría de los casos. Se caracteriza por la tríada: hipohidrosis, oligodoncia e hipotricosis. Presentamos dos casos de pacientes con DEH en los cuales se observaron signos característicos del síndrome: piel delicada; cabellos, cejas y pestañas escasos; arrugas periorbitales; hiperpigmentación perioral y periorbital; labios prominentes y además de eso el paciente del caso 2 presentaba depresión del puente nasal. Se constató aún disminución de la secreción salival y lagrimal y hipoplasia de maxila en los dos casos. Al examen oral estaban presentes en el caso 1 los caninos superiores derecho e izquierdo temporales y el canino inferior derecho temporal y en el caso 2 los caninos superiores e inferiores (derechos e izquierdos) temporales y dos incisivos superiores (uno derecho y otro izquierdo) permanentes con morfología alterada, siendo todos los elementos dentarios íntegros. El tratamiento odontológico precoz de los portadores de DEH, principalmente en la presencia de oligodoncia, como la que se observa en los casos aquí reportados, es importante no solamente para ofrecer mejor calidad de vida para estos pacientes en corto plazo, sino también en el intento de mitigar las alteraciones en el crecimiento facial a que estos pacientes están sometidos.

Hypohidrotic ectodermal dysplasia (HED) is a rare disease of genetic etiology. The most frequent form is of recessive linked to X-chromosome inheritance with affected male and female carriers. It can occur through autosomal mutations, of the gene EDA1 gene being responsible for the majority of the cases. It is characterized by the triad: hypohidrosis, oligodontia and hypotrichosis. We present two cases of patients with HED in which we observed characteristic signs of this syndrome: delicate skin, sparce hair, eyebrows and eyelashes, periorbital wrinkles, perioral and periorbital hyperpigmentation, prominent lips, in addition the patient in case 2 also present the depressed nasal bridge. We also found decreased salivary and lacrimal secretion and maxillary hypoplasia in both cases. At the oral examination in case 1 the upper right and left deciduous canines and lower right deciduous canine were present, and in case 2 the upper and lower (right and left) deciduous canines and two upper (one right and other left) permanent incisors were present with altered morphology, all of these dental elements were healthy. The early dental treatment of patients with HED, especially in the presence of oligodontia, as observed in our cases, is important not only to provide a better quality of life for these patients in the short term, but also an attempt to minimize the changes in facial growth to which these patients are subject.

Prevalencia y distribución de la agenesia dental en pacientes pediátricos del Área Metropolotana de Caracas Venezuela / Prevalence and distribution of dental agenesis in pediatric patients Metropolitan Area of Caracas Venezuela

La agenesia dental es la anomalía del desarrollo más frecuente en el ser humano, estando frecuentemente asociada a maloclusiones y alteraciones estéticas y funcionales. Determinar la prevalencia y distribución de la agenesia dental en dos grupos de niños del Área Metropolitana de Caracas-Venezuela. Fueron evaluadas 1.188 radiografías panorámicas previamente realizadas de pacientes con edades comprendidas entre 5 y 18 años, tanto en un servicio universitario como en una clínica privada. Fueron excluidos pacientes con Hendidura Labio Palatina (HLP), condiciones sistémicas o síndromes. Se registró la agenesia de dientes permanentes, exceptuando terceros molares. Fueron calculados estadísticos descriptivos , porcentajes, , diferencias entre promedios (t de Student, con significación estadística p=0,05) y correlaciones entre variables (rho de Pearson, con significación estadística p=0,01). La prevalencia de agenesia fue de 5,6%, registrándose 66 pacientes afectados, con mayor proporción para el género femenino (razón 1,44). La media de dientes ausentes fue de 1,64, observándose un total de 108 dientes con agenesia. Los promedios por género y grupo de estudio no mostraron diferencias estadísticamente significativa entre. Los segundos premolares inferiores fueron los más afectados (35,19%), seguidos de los incisivos laterales superiores (30,55%). El 90,9% de los casos presentó agenesia de uno o dos dientes. Hubo diferencias entre géneros en la distribución de agenesia y se halló correlación inversa entre la presencia de agenesia en el maxilar superior y el inferior. La prevalencia y distribución de agenesia dental en esta investigación está en concordancia con la reportado en estudios internacionales. Los patrones de agenesia variaron entre géneros, siendo el femenino.

Dental agenesis is the most common developmental anomaly in humans, frequently associated with malocclusion with esthetic and functional consequences. The purpose of this study is to determine the prevalence and distribution of dental agenesis in two groups of children from the Caracas Metropolitan Area-Venezuela. 1,188 panoramic radiographs from patients ages 5 to 18 years old were studied for agenesis of permanent teeth excluding third molars. Radiographs were previously taken in both a University Clinical Service and a private practice. Patients with cleft lip and palate, systemic disease or syndromes were excluded. Descriptive analysis of data was performed, as well as differences between means (Student t test p=0.05) and correlations (Pearson p=0.01). Dental agenesis affected 66 patients, for a prevalence of 5.6%. Females were most affected (1.44 to 1) with an overall mean of 1.64. The difference of means between genders and populations were not statistically significant. A total of 108 teeth were missing, being the most affected the second mandibular premolars (35.19%), followed by the lateral maxillary incisors. 90,9% of patients presented agenesis of one or two teeth. Differences were observed in the distribution of dental agenesis between genders and inverse correlation was obtained for dental agenesis between the maxilla and mandible. The results of prevalence and distribution of dental agenesis in this study agree with previous international studies. Patterns were variable between genders; females were more affected than males.

Witkop's tooth and nail syndrome: a multifaceted approach to dental management.

Witkop's tooth and nail syndrome is a rare autosomal dominant disorder of ectodermal dysplasia characterized by hypodontia and nail dysplasia. Mutations in MSX-1 have been shown to be associated with this syndrome. There is failure of development and eruption of the dentition. Tooth shape may vary; the most common forms are conical and narrow crowns. The nails may be spoon shaped and slow growing and affect both finger and toe nails. The nail involvement is more severe in childhood. The present case describes a 14-year-old boy who showed the characteristic features of Witkop's syndrome. A multifaceted approach to the dental management of the patient is discussed.

Kabuki make-up (Niikawa-Kuroki) syndrome: dental and craniofacial findings in a Brazilian child

This article reports the case of a Brazilian child diagnosed with Kabuki make-up syndrome (KMS), addressing the clinical features observed, with emphasis on the disease-specific oral and craniofacial manifestations. The patient had the distinctive KMS craniofacial appearance, mild delayed mental development, fingers with prominent fingertip pads and visual deficit. The dental findings included fusion of the left mandibular incisors (central and lateral), gemination of the right mandibular central incisor and congenital agenesis of the right mandibular lateral incisor, in the primary dentition, as well as absence of both permanent mandibular lateral incisors. Fusion and gemination have not been previously referred to as typical dental features in KMS. The detection of unique dental findings, such as missing teeth and dental anomalies of form in the primary dentition by means of clinical and radiographic examinations, might consist of a helpful diagnosis parameter in identifying children who may have milder forms of Kabuki syndrome.

Este artigo relata o caso de uma criança portadora da Síndrome de Kabuqui e descreve as características clínicas observadas, com ênfase nas manifestações craniofaciais e intrabucais. O paciente apresentava características craniofaciais clássicas da síndrome, deficiência mental leve, déficit visual e atraso no desenvolvimento dental. Os achados intrabucais incluíam a fusão dos incisivos inferiores do lado esquerdo (central e lateral), geminação do incisivo central inferior direito e agenesia do incisivo lateral inferior direito na dentição decídua bem como ausência dos incisivos laterais inferiores permanentes. Fusão e geminação ainda não foram descritas em pacientes com a síndrome. Assim, a detecção de achados dentais como agenesias e anomalias de forma na dentição decídua, por meio de exames clínicos e radiográficos, são importantes para auxíliar no diagnóstico de crianças com uma forma moderada da Síndrome de Kabuqui.

Lobster-claw syndrome.

Lobster-Claw syndrome is a rare autosomal dominant, hand-foot malformation with Oro-dental features. This is a rare condition and from the available reports so far, cases being reported are less than 1%. Most reports have focused on the hand-foot deformity of this syndrome. This paper highlights the typical Oro-dental features associated with this syndrome such as retained deciduous teeth, hypodontia and variation in crown size, arch length and arch width.

Fusion of primary incisors--a report of six cases.

Six cases of asymptomatic dental twinning anomalies in the primary dentition are reported in 4205 school children. A clinical and radiographic presentation of the cases of fusion of primary incisor teeth is illustrated. This clinical entity has been found to appear with varied clinical and radiographic appearances. An association of fusion of primary incisors with the number of succedaneous teeth was seen.