Preliminary study of familial nonsyndromic tooth agenesis caused by ectodysplasin A mutation / 口腔疾病防治

Objective@# To explore the pathogenic genes in a Chinese family affected by nonsyndromic tooth agenesis so as to study the pathogenesis of oligodontia.@*Methods @# Hospital ethical approval and informed consent of the patients and family members were obtained. Clinical data of the proband and close family members were collected, peripheral venous blood was collected, and DNA was extracted. Gene sequencing was performed through whole-exome sequencing, and then the screened pathogenic genes were verified by Sanger sequencing. The three-dimensional structure of the mutant proteins was analyzed and compared with the wild-type using bioinformatics tools.@*Results@#The two patients with congenital majority tooth loss in this family were cousins, and there were no other patients with congenital majority tooth loss in the family. Besides congenital multiple tooth loss, the two patients had no obvious hair abnormalities, finger/toe abnormalities, sweating abnormalities or other abnormal manifestations of ectodermal tissue. We found a mutant gene that in this family by carrying out gene sequencing of the patients and their close family members. A novel EDA (ectodysplasin A) missense mutation c.983C>T (p. Pro328Leu) was identified, which changed the encoded amino acid from proline (Pro) to leucine (Leu). Analysis of the mutation site showed that the site was highly conserved, and three-dimensional structure modeling also found that it changed the structure of EDA. @* Conclusion@#A novel EDA missense variant (c.983C>T, p.Pro328Leu) was first identified in a Chinese family with nonsyndromic tooth agenesis, extending the mutation spectrum of the EDA gene.

Research progress on selective tooth agenesis caused by LRP6 gene mutation / 口腔疾病防治

@#Selective tooth agenesis (STA) is an abnormal number of teeth due to genetic factors or the environment and is most commonly observed for permanent teeth. LRP6 is one of the common causative genes of STA and is inherited by an autosomal dominant mechanism, leading to non-syndrome tooth agenesis (NSTA) or syndrome tooth agenesis (STA). NSTA is only involved in tooth number and appearance abnormalities, whereas STA caused by LRP6 gene mutation results abnormal ear development, oral-facial clefting, sparse hair and hypohidrosis. In this paper, we review the phenotype and gene mutation traits of selective STA caused by LRP6 gene mutation identified in recent years and describe 38 patients with tooth agenesis from 24 mutation sites of LRP6 gene. We analyzed the percentage of missing teeth and found that the lateral incisor in the maxilla and the second premolar in the maxilla and mandible were most commonly lost, whereas all central incisors in the maxilla remained. LRP6 gene plays a major role in tooth development via the WNT/β-catenin signaling pathway, and LRP6 gene mutation can lead to a series of abnormal manifestations due to the disruption of the signaling pathway. The literature showed that LRP6 gene mutations occurred mostly at the E1 or E2 subdomain, meaning that STA due to the mutants extracellularly disturbed the WNT/β-catenin signaling pathway. However, mature treatments for selective congenital tooth loss are lacking.

Dental Anomalies and Muscle Segment Homeobox1 Gene Polymorphism in Nonsyndromic Cleft Lip with or without Palate Children

@#This study aims to determine the prevalence of dental anomalies and MSX1 gene 799G>T polymorphism and its association with non-syndromic cleft lip with or without palate (NSCLP) attending Hospital Universiti Sains Malaysia. Clinical and radiological assessments on 37 NSCL±P patients and 80 non-cleft children were done to detect dental anomalies. The buccal cells were collected and polymerase chain reaction restriction fragment length polymorphism (PCR-RFLP) was used to identify polymorphism. NSCL±P was higher among males (54%) and mostly unilateral cleft lip and palate (51.3%). The prevalence of dental anomalies in morphology in NSCL±P was 18.9% (95% CI: 5.7%, 32.2%) and non-cleft was 6.3% (95% CI: 0.8%, 11.7%). Hypodontia in NSCLP was 75% (95% CI: 61.2%, 90.2%) and non-cleft was 7.5% (95% CI: 1.6%, 13.4%). There was a significant association between NSCLP and anomalies in morphology (P= 0.04; OR=3.5)) and number (P< 0.01; OR= 40). There was an absence of rare 799G>T polymorphism in all NSCL±P and non-cleft children indicating that all samples contain common 799G polymorphism. In conclusion, the prevalence of dental anomalies in morphology and number was significantly higher in NSCL±P compared to non-cleft children. However, it was not significantly associated with MSX1 799G>T polymorphism.

Detección polimórfica del rs104893850 de MSX1 y rs28933373 de PAX9 en personas con agenesia dental no sindrómica / Polymorphic detection of rs104893850 of MSX1 and rs28933373 of PAX9 in people with non syndromic dental agnesia

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)

Inter-incisive index in Bulgarians and its application in dentistry / Indice interincisivo en búlgaros y su aplicación en odontología

SUMMARY: In recent years, aesthetic dentistry has become a major focus for the public. Facial attractiveness plays a key role on modern society and the creation of harmonious smile is an aim for every dentist. The objective of this study was to define certain values of the inter-incisive index in Bulgarians, the sexual dimorphism and bilateral asymmetry and to verify differences of this index between Bulgarians and other Balkan populations. The present study included 121 males and 111 females of Bulgarian origin aged 20- 40 years. Mesiodistal dimensions of maxillary central and lateral incisors were measured by Dentistry Sliding Vernier Caliper. We used the technique of direct anthropometry, modified by Prof. Y. Yordanov. We calculated the inter-incisive index as ratio of the mesiodistal dimension of maxillary lateral incisor to the mesiodistal dimension of the maxillary central incisor. The measurements were analyzed with SPSS 23. The level of statistical significance was set at P< 0.05. The inter-incisive index showed no statistically significant differences between left and right side of the dental arch in both sexes. We did not find statistically significant differences between males and females as well. On the other hand, we found statistically significant differences in MD values of incisors between Bulgarians and other Balkan nations. Inter-incisive index shows no sexual dimorphism and bilateral asymmetry in Bulgarians. This can be helpful in aesthetic dentistry, in prosthodontics and in orthodontic treatment planning.

RESUMEN: En los últimos años, la odontología estética se ha convertido en un foco importante para el público. El atractivo facial juega un papel clave en la sociedad moderna y la creación de una sonrisa armoniosa es importante para todos los dentistas. El objetivo de este estudio fue definir ciertos valores del índice interincisivo en búlgaros, el dimorfismo sexual y la asimetría bilateral y verificar diferencias de este índice entre búlgaros y otras poblaciones balcánicas. El presente estudio incluyó a 121 hombres y 111 mujeres de origen búlgaro entre 20 y 40 años de edad. Las dimensiones mesiodistales de los incisivos superiores centrales y laterales se midieron con un calibrador Vernier deslizante de odontología. Utilizamos la técnica de antropometría directa, modificada por el Prof. Y. Yordanov y se calculó el índice interincisivo como la relación entre la dimensión mesiodistal del incisivo lateral superior y la dimensión mesiodistal del incisivo central superior. Las medidas se analizaron con SPSS 23. El nivel de significancia estadística se fijó en P<0,05. El índice interincisivo no mostró diferencias estadísticamente significativas entre los lados izquierdo y derecho de la arcada dentaria en ambos sexos. Tampoco encontramos diferencias estadísticamente significativas entre hombres y mujeres. Por otro lado, encontramos diferencias estadísticamente significativas en los valores de DM de los incisivos entre búlgaros y otras naciones balcánicas. El índice interincisivo no muestra dimorfismo sexual ni asimetría bilateral en los búlgaros. Esto puede ser útil en odontología estética, en prostodoncia y en la planificación de tratamientos de ortodoncia.

Agenesias dentárias atípicas: relato de caso clínico / Atypical dental agenesis: clinical case report

A agenesia dentaria é uma anomalia de desenvolvimento caracterizada pela determinação congênita de menor numero de dentes, podendo estar associada a síndromes genéticas ou ocorrer isoladamente. Embora seja considerada uma das anomalias mais frequentes quando envolve terceiros molares, segundo pré-molares e incisivos laterais, sua ocorrência em dentes estáveis, tais como o canino e o primeiro molar permanente é rara. Desta forma, este relato apresentará o caso de uma paciente do sexo feminino, 8 anos idade, que iniciou tratamento de rotina na Clínica de Odontopediatria da UNIFENAS. Na anamnese não foi relatada pela responsável a ocorrência de alterações sistêmicas, nem queixa ou histórico odontológico relevante. No exame clínico odontológico, notou-se o não irrompimento do primeiro molar permanente superior direito (16). Diante dos exames de imagem, foi confirmada a agenesia do dente 16 e também do canino permanente superior direito (13). A agenesia, sobretudo de dentes estáveis e relevantes no arco dentário, pode comprometer o desenvolvimento adequado da oclusão, mastigação, fonação e estética. Desta maneira, é importante o diagnóstico precoce desta ocorrência com o objetivo de favorecer a elaboração de um adequado plano de tratamento e, minimizar as sequelas destas agenesias atípicas(AU)

Dental agenesis is a developmental anomaly characterized by the congenital determination of fewer teeth, may be associated with genetic syndromes or occur in an isolated form. Although it is considered one of the most frequent anomalies when it involves third molars, second lateral premolars and incisors, the occurrence in stable teeth, such as the permanent canine and the permanent first molar is rare. This report will present the case of an 8-year-old female patient who started routine treatment at the Pediatric Dentistry Clinic of UNIFENAS. In the anamnesis, the responsible person did not report the occurrence of systemic alterations, or a relevant dental complaint or history. On dental clinical examination, it was noticed the non-rupture of the permament maxillar right first molar (16). In view of the imaging tests, the agenesis of tooth 16 and also of the permanent maxillary right canine (13) was confirmed. Agenesis, especially of stable and relevant teeth in the dental arch, may compromise the proper development of occlusion, chewing, phonation and aesthetics. Thus, it is of paramount importance to early diagnosis of this occurrence in order to favor the development of an appropriate treatment plan in order to minimize the sequelae of these atypical agenesis(AU)

Ectodermal dysplasia: A case report

Ectodermal dysplasia (ED) is a rare group of inherited disorders with defects in the development of one or more tissues derived from primary embryonic ectodermal derivatives. The inclusion of ED does not include all ectodermal derivatives and is manifested with a defect in skin, hair, teeth, and eccrine glands. Dry skin, frontal bossing, scanty eyebrows, and hair follicles are common features seen in these patients. The patient may suffer from high fever due to the absence of eccrine glands. Intraoral findings include a partial or complete absence of teeth with generalized spacing. It can be inherited or caused by a genetic mutation, and it can also happen without a family history. This case report presents a 12-year-old female child with hypohidrotic ED involving a multidisciplinary approach in ED that was beneficial both physiologically and psychologically is discussed in this case report.

A novel report of dental development pattern in a 3-year-old girl with three congenitally missing primary canines A review of the literature and a case study

Dentists may encounter patients with numerical dental anomalies in clinical practice and understanding of these conditions would allow early detection as well as intervention. The absence of one or more teeth congenitally is referred as hypodontia. This dental anomaly is rarely reported in primary dentition and the most commonly affected teeth in the primary dentition are mandibular lateral incisors and primary canines are remarkably very rare and this entity has not been often reported. This case study was aimed to report a 3-year-old Indian girl with the absence of three canines primary dentition and also evaluate the overall dental development pattern of developing permanent teeth. Furthermore, a new finding for pediatric dentists that the development of permanent canines in case of missing primary canines.

Prosthodontic Rehabilitation of Bilateral Maxillary Lateral Incisors Agenesis: A Case Report with One-Year Follow-Up

ABSTRACT@#Globally, non-syndromic tooth agenesis is commonly seen in clinical practice. However, its management is often complex and requires a multidisciplinary team approach for the maximal outcome. While various treatment options are possible, considerations for the treatment are not only based on the dentofacial conditions but also cultural and social background and personal preference of the patient. Thus, patientcentred care approach should always be practised for an optimal outcome. In the present case, a patient with established craniofacial growth presenting with bilateral agenesis of maxillary lateral incisors and over-retained deciduous maxillary left canine sought for aesthetic improvements. The patient did not prefer any orthodontic treatment citing a prolonged treatment duration and sub-optimal motivation as a hindrance. Thus, a prosthodontic only approach was taken by providing a conventional cantilever bridge and ceramic veneers to achieve the aims of treatment. This article discusses the possible limitation of such prosthodontic only solution in managing tooth agenesis.

Association between hypodontia of permanent maxillary lateral incisors and other dental anomalies

ABSTRACT Introduction: Tooth agenesis is often associated with other tooth anomalies, such as microdontia, delayed eruption and ectopic eruption. Moreover, they may be found all in the same individual, as certain genetic mutations may have a variable phenotypic expression. Treatment of cases of hypodontia of anterior teeth should not involve only opening or closing space for prosthetic rehabilitation. Individuals with hypodontia of permanent maxillary lateral incisors may have teeth with a mesiodistal width smaller than that of patients with a normal dentition, and which may need reshaping to achieve an esthetic and functional occlusion. Objective: This clinical case report discusses the association of hypodontia of permanent maxillary lateral incisors with other tooth anomalies and their treatment alternatives.

RESUMO Introdução: As agenesias dentárias são frequentemente associadas a outras anomalias dentárias, tais como microdontia, atraso na erupção e ectopismo. Além disso, podem vir todas juntas em um mesmo indivíduo, pois certas mutações genéticas podem se expressar fenotipicamente de diferentes formas. A abordagem terapêutica nos casos de hipodontia de dentes anteriores não deve se pautar somente entre fechar ou abrir espaço para substituição protética. Portadores de hipodontia de incisivos laterais superiores permanentes podem apresentar os outros dentes com largura mesiodistal menor que os de pacientes com dentição normal, e podem necessitar de reanatomizações para que se obtenha uma oclusão dentária estética e funcional. Objetivo: Dessa forma, o objetivo do presente artigo é relatar um caso clínico e discutir a associação da hipodontia de incisivos laterais superiores permanentes com outras anomalias dentárias, e suas alternativas de tratamento.

Prevalencia de agenesia dental en pacientes evaluados en ortodoncia, Santiago de Chile / Prevalence of dental agenesis in patients evaluated in orthodontics, Santiago de Chile

Resumen La agenesia dentaria es una anomalía frecuente de detectar en un examen odontológico. Objetivo: Determinar la prevalencia de agenesias en la población chilena actual, comparar según sexo, diente afectado y clase esqueletal, y registrar microdoncia de incisivos laterales superiores permanentes. Materiales y métodos: En este estudio descriptivo transversal, se contabilizó el número de agenesias dentarias presentes en 278 radiografías panorámicas de un total de 9207 pacientes, que ingresaron a tratamiento de ortodoncia durante el año 2017 en un centro clínico privado de Santiago de Chile. Resultados: Se obtuvo una prevalencia de agenesia del 3,02%, encontrando una mayor frecuencia de agenesia de segundos premolares inferiores, seguido de incisivos laterales superiores. Hubo una mayor cantidad de agenesias en pacientes de sexo femenino. Conclusión: Los segundos premolares son los dientes con mayor prevalencia de agenesias, no se evidenció la asociación de agenesias en alguna clase esqueletal específica, y se sugieren más estudios para describir la prevalencia de los terceros molares, debido a que este diente está en vías de dejar desarrollarse, según la teoría evolutiva.

Abstract Dental agenesis is a frequent anomaly detected in a dental examination. Objective: To determine the prevalence of agenesis in the current Chilean population, compare according to sex, affected tooth, skeletal class, and record microdontia of permanent upper lateral incisors. Materials and methods: In this cross-sectional descriptive study, the number of dental agenesis present in 278 panoramic radiographs of a total of 9207 patients who entered orthodontic treatment during 2017 in a private clinical center in Santiago de Chile was recorded. Results: A prevalence of agenesis of 3.02% was obtained, finding a higher frequency in lower second premolars, followed by upper lateral incisors. Females presented a higher amount of cases in comparison to males. Conclusion: The second premolars are the teeth with the highest prevalence of agenesis. The association of this alteration with some specific skeletal class was not evidenced. More studies are suggested to describe it´s prevalence in the third molars, beacause according to the evolutionary theory this tooth might eventually disappear.

Orthodontic management of a non-syndromic patient with concomitant bimaxillary hypohyperdontia: a case report

ABSTRACT Introduction: Tooth agenesis is one of the most common dental anomalies; however, the concomitant occurrence of opposite dental numerical variation of hypohyperdontia is extremely rare. Objective: To report the successful orthodontic management of a patient with non-syndromic concomitant bilateral agenesis of mandibular canines and two midline inverted supernumerary maxillary teeth. Case report: 21-year-old female patient with a chief complaint of protrusive right maxillary central incisor. The patient was diagnosed with a mild Class II skeletal base, Angle Class III molar relationship and increased overjet associated with hypohyperdontia. Anterior open bite accompanied with tongue-thrusting habit were also observed. Two temporary anchorage devices (TADs) were implanted at the buccal side of the maxillary molar region to control vertical height. Anterior teeth retraction was done after extraction of the maxillary first premolars, to improve the excessive overjet. The treatment mechanics involved lingual brackets system for the maxillary arch and transpalatal arch for anchorage control. Results: The total active treatment period was 35 months. Acceptable occlusion with increased bite force and contact area as well as functional excursion were established without interference, following complex orthodontic treatment with premolar substitution. The resultant occlusion and a satisfactory facial profile were maintained after 29 months of retention. Conclusion: The present case report provides implications regarding the orthodontic treatment of hypohyperdontia-associated substitution for missing teeth as an effective option for improving aesthetic and functional aspects.

RESUMO Introdução: A agenesia é uma das anomalias dentárias mais comuns; porém, a ocorrência concomitante de variações numéricas do tipo hipo-hiperdontia em ambas as arcadas é extremamente rara. Objetivo: Descrever o tratamento ortodôntico bem-sucedido de uma paciente não sindrômica que apresentava agenesia bilateral dos caninos inferiores e dois dentes supranumerários na região de linha média superior. Descrição: Paciente do sexo feminino com 21 anos de idade, apresentando queixa principal de protrusão dos incisivos centrais superiores. Foi diagnosticada com leve Classe II esquelética, relação de molares em Classe III de Angle, sobressaliência aumentada e hipo-hiperdontia. Além disso, a paciente apresentava mordida aberta anterior associada ao hábito de interposição lingual. Dois dispositivos de ancoragem temporária (DATs) foram instalados por vestibular na região dos molares superiores, para controle vertical. A retração dos dentes anteriores foi feita após a extração dos primeiros pré-molares superiores, para reduzir a sobressaliência acentuada. A mecânica adotada envolveu o uso de braquetes linguais na arcada superior e barra transpalatina para controle da ancoragem. Resultados: Após 35 meses de fase ativa desse tratamento complexo, com substituição dos pré-molares, obteve-se oclusão aceitável, com aumento da força oclusal e da área de contatos oclusais, bem como movimentos excursivos funcionais bem estabelecidos e sem interferências. Após 29 meses de contenção, verificou-se estabilidade da oclusão e do perfil facial. Conclusão: Esse relato de caso clínico mostra que o tratamento ortodôntico com substituição de dentes ausentes associados à hipo-hiperdontia é uma opção efetiva para a melhora dos aspectos estéticos e funcionais.

Is third molar agenesis an anomaly or just a sign of variation? Prevalence and manner of presentation of this condition in a sample from the Metropolitan Region of Chile / ¿Es la agenesia del tercer molar una anomalía o simplemente un signo de variación? Prevalencia y forma de presentación de esta condición en una muestra de la Región Metropolitana de Chile

Agenesis of permanent teeth is the most frequent dental anomaly. The most affected tooth is the third molar (M3), and its congenital absence poses interesting questions from a clinical and evolutionary perspective. M3 agenesis can occur isolated or as part of syndromes. Researchers have reported prevalences that vary largely among populations, between 5 % and 56 %, with a mean prevalence of 22.6 %. Previous Chilean studies, mainly in Northern populations, have determined a prevalence between 19.8 % and 26.7 %. The aim of this work was to assess the prevalence of M3 agenesis and to characterize its presentation in a sample from Santiago, the largest to date in a M3 agenesis prevalence study in Chile. In this study, 535 panoramic radiographies and clinical histories of patients from the Dental Clinic of the Universidad de Chile were used to determine prevalence and distribution according to sex, affected tooth, and location (left or right; maxilla or mandible). The Chi-square test was used to assess statistical significance in distribution. The calculated M3 agenesis prevalence was of 12.89 %. No statistically significant differences were found between sexes, sides or location within the jaws. The agenesis of one third molar was more common, then two, three and finally of all the third molars. The prevalence of M3 agenesis in the sample is 12.89 %, with a random manner of presentation. We propose that as it currently stands, M3 agenesis should be considered an anatomical variation rather than a developmental anomaly.

La agenesia de dientes definitivos es la anomalía dental más común. El diente más afectado es el tercer molar (M3), y su ausencia congénita plantea preguntas interesantes desde una perspectiva clínica y evolutiva. La agenesia de M3 puede ocurrir de manera aislada o asociada a síndromes. Estudios a nivel mundial reportan una prevalencia variable entre poblaciones: 5 % a 56 %, con una prevalencia media del 22,6 %. Estudios chilenos anteriores, principalmente en poblaciones del norte, han determinado una prevalencia entre 19,8 % y 26,7 %. El objetivo de este trabajo fue determinar la prevalencia de agenesia de M3 y caracterizar su presentación en una muestra de Santiago, la más grande hasta la fecha en un estudio de prevalencia de agenesia de M3 en Chile. Se utilizaron 535 radiografías panorámicas y antecedentes de pacientes atendidos en la Clínica Odontológica de la Universidad de Chile para evaluar la prevalencia y modo de presentación de la agenesia de M3. Se analizó su distribución según ubicación, sexo y simetría, mediante test estadístico Chi-cuadrado. Se calculó una prevalencia de agenesia de M3 de 12,89 %, sin un patrón claro ni estadísticamente significativo en su distribución. Fue más común la agenesia de un tercer molar, luego de dos, tres y finalmente de todos los terceros molares. La prevalencia de agenesia en una muestra de la Región Metropolitana es de 12,89 % y su distribución es aleatoria según la ubicación, sexo y simetría. Se propone que esta condición actualmente debiera considerarse como una variación anatómica más que a una anomalía del desarrollo.

Comprehensive Orthodontic and Prosthodontic Rehabilitation of Hypodontia: A Case Report of Interdisciplinary Approach

Introduction: Aesthetically compromised smile dueto hypodontia needs correction to enhance individual’sfacial appearance. Not only cosmetic but also functionalimprovement after dental rehabilitation will boost up one’sconfidence and positively influence quality of life.Case Report: The case report delineates combined orthoprostho approach during treatment of a 17-year-old femalepatient with congenitally missing maxillary lateral andmandibular central incisors, collapsed anterior arches andspacing. The treatment started with orthodontic correctionfor space creation and distribution, followed by prostheticmanagement with all ceramic fixed dental prosthesis for upperanterior arch and porcelain laminate veneers for lower anteriorteeth.Conclusion: The step by step interdisciplinary approach,which is the principal factor for treating hypodontia in an idealway among many options, gives the patient optimum estheticand functional satisfaction.

Frecuencia de anomalías dentales de número en niños costarricenses atendidos en la Facultad de Odontología de la Universidad de Costa Rica / Frequency of Teeth Number Anomalies in Costa Rican Children at the Faculty of Dentistry University of Costa Rica

Resumen 16. Las anomalías dentales pueden producir alteraciones de forma, número, tamaño y estructura dental, afectando la función y la estética. El objetivo del presente estudio es determinar la frecuencia y localización de anomalías dentales de número en niños sanos costarricenses entre los 6 y 12 años. Se realizó un estudio observacional y retrospectivo con 157 radiografías panorámicas de los expedientes de los pacientes de la Clínica de Odontopediatría y Ortodoncia de la Universidad de Costa Rica entre los años 2015-2017; las anomalías que se observaron fueron hiperdoncias e hipodoncias. Los datos fueron analizados utilizando la prueba de Fisher con un nivel de significancia del 5%. Se encontró un 8.3% de anomalías de número, 4.5% fueron hiperdoncias y 3.8% hipodoncias, ambas anomalías se presentaron tanto de forma única como doble o múltiple. No se encontró diferencia estadísticamente significativa según el género. Las hiperdoncias fueron más comunes en maxila y las hipodoncias en mandíbula. Los dientes supernumerarios más frecuentes fueron los mesiodens y las ausencias más recurrentes fueron los segundos premolares inferiores.

Abstract 20. Dental anomalies can produce alterations in dental shape, number, size, and structure, affecting function and aesthetics. The objective of this study is to determine the frequency and location of teeth number anomalies in healthy Costa Rican children between 6 and 12 years old. An observational and retrospective study was carried out with 157 panoramic radiographs of the patients of the pediatric dentistry and orthodontics clinic of the University of Costa Rica between the years 2015-2017. Hyperdontias and hypodontias were the anomalies observed. Data were analyzed using a Fisher exact test with a significance level of 5% . The results showed that the overall frequency of dental anomalies was 8.3%, 4.5% were hyperdontias and 3.8% hypodontias. Double or multiple hyperdontia and hypodontia were also found. The difference between sex was not significant (p= 0.145). Supernumeraries were more frequent in maxilla and hypodontias in mandible. Mesiodens was the most frequently found supernumerary teeth. Mandibular second premolars were the most commonly missing teeth.

Prosthetic Rehabilitation in a Child with Hereditary Ectodermal Dysplasia

Hereditary ectodermal dysplasia is a disease linked to the X recessive chromosome that affects the development of tissues derived from the ectoderm. The main clinical manifestations include hypohidrosis (inability to sweat), hypotrichosis (sparse hair) and hypodontia (lack teeth). This work presents a clinical case of a 6-year old male child who had been diagnosed with hereditary ectodermal dysplasia. The treatment consisted of the fabrication of a mandibular and maxillary complete denture to improve his esthetic, functional and psychological conditions.

Rehabilitación inicial de un niño con anodoncia: presentación de una situación clínica / Initial rehabilitation of a child with anodontia: report of a clinical situation

El objetivo de este trabajo es describir la rehabilitación inicial de un niño preescolar con displasia ectodérmica (DE) y anodoncia. Realizó la primera consulta a los 30 meses con ambos rebordes desdentados y requerimientos familiares de estética y función acorde a su edad. Requirió un amplio abordaje interdisciplinario (odontopediatra, psicóloga, fonoaudióloga y especialista en prótesis). Se instalaron prótesis totales removibles (PTR) en ambos maxilares rebasadas con material resiliente de larga duración, que cumplieron los requisitos de retención, soporte, estabilidad y confort para el niño.Conclusión: los pacientes con anodoncia requieren rehabilitación a edades tempranas, siendo necesaria la participación de equipos interdisciplinarios que aportan diferentes recursos para mejorar la estética, favorecer la función y la inserción en el contexto psicosocial acompañando el crecimiento y desarrollo (AU)

A case of Carvajal syndrome caused by a spontaneous mutation in the desmoplakin gene / 中华皮肤科杂志

Objective@#To report a case of Carvajai syndrome caused by a spontaneous mutation in the desmoplakin (DSP) gene.@*Methods@#Clinical data were collected form a patient with Carvajal syndrome in Department of Dermatology, The First Affiliated Hospital of Zhengzhou University. Peripheral blood samples were obtained from the proband, his parents and 100 unrelated healthy controls, and blood genomic DNA was extracted. The ion torrent PGM second-generation sequencing platform was used to detect sequence variations in coding regions of exons in skin disease-related genes in the proband and his parents, and the pathogenic variation was verified by PCR-Sanger sequencing.@*Results@#The proband clinically presented with woolly hair, diffuse palmoplantar keratoderma, onychodysplasia, hypodontia and sinus arrhythmia as shown by electrocardiogram. Gene sequencing revealed a heterozygous missense mutation c.1790C>T (p.Ser597Leu) in exon 14 of the DSP gene in the proband, resulting in the substitution of serine by leucine at amino acid position 597. No mutation was identified in the proband′s parents or the 100 healthy controls, so the mutation in the proband is spontaneous. The patient was finally diagnosed with Carvajal syndrome according to the clinical manifestations, gene detection and auxiliary examination results.@*Conclusion@#The heterozygous missense mutation C.1790C>T (p.Ser597Leu) of the DSP gene may be the pathogenic mutation for the clinical phenotype of the patient.

Hypodontia of mandibular incisors: considerations on the orthodontic treatment

ABSTRACT Hypodontia is the most prevalent craniofacial malformation in mankind. It may present a wide variety of manifestations and, depending on the number and location of missing teeth, it may affect the esthetics, mastication, speech and occlusal balance. This paper discusses the therapeutic approaches to solve this condition, describing a case report with hypodontia of one mandibular lateral incisor, which treatment option included space closure at the region of hypodontia associated with composite resin restorations in the mandibular central incisors. The three-year follow-up after treatment revealed occlusal stability, adequate intercuspation in Class I relationship and excellent micro and macroesthetics.

Resumo A agenesia dentária é a malformação craniofacial mais prevalente em humanos. Pode apresentar uma grande variedade de manifestações e, dependendo do número e localização dos dentes ausentes, pode afetar a estética, a mastigação, a fala e o equilíbrio da oclusão. Neste artigo, serão discutidas as propostas terapêuticas para resolução dessa condição e será descrito um caso clínico com agenesia de um incisivo lateral inferior, cuja opção de tratamento foi o fechamento do espaço remanescente da agenesia, associado ao incremento de resina composta nos incisivos centrais inferiores. No acompanhamento por três anos após o tratamento, verificou-se estabilidade oclusal, adequada intercuspidação em Classe I e excelente micro e macroestética.