Mutation of dentin sialophosphoprotein and hereditary malformations of dentin / 中华口腔医学杂志

The classification as well as the clinical manifestations of hereditary malformations of dentin are of great concern and have been deeply elucidated. The understanding of its genetic basis also increases progressively. Dentin sialophosphoprotein (DSPP) is the pathogenic gene of dentinogenesis imperfecta type Ⅱ, dentinogenesis imperfecta type Ⅲ and dentin dysplasia type Ⅱ. In this article, the classification of DSPP mutations as well as the resultant dysfunction of the mutant DSPP are summarized respectively and the corresponding clinical manifestations are analyzed. This work will provide a reference for the diagnosis and treatment of hereditary malformations of dentin.

Tratamiento integral de una adolescente con dentinogénesis imperfecta tipo I / Comprehensive treatment of an adolescent with type I dentinogenesis imperfecta

La dentinogénesis imperfecta (DI) es un desorden hereditario de carácter autosómico dominante, que se origina durante la etapa de histodiferenciación en el desarrollo dental y altera la formación de la denti-na. Se considera una displasia dentinaria que puede afectar ambas denticiones con una incidencia de 1 en 6000 a 8000 nacimientos. El tratamiento del pa-ciente con DI es complejo y multidisciplinario, supone un desafío para el odontólogo, ya que por lo general están involucradas todas las piezas dentarias y afec-ta no solo la salud buco dental sino el aspecto emo-cional y psicológico de los pacientes. Objetivo: des-cribir el tratamiento integral y rehabilitador realiza-do en una paciente adolescente con diagnóstico de DI tipo I. Relato del caso: Paciente de sexo femenino de 14 años, que concurrió en demanda de atención a la Cátedra de Odontología Integral Niños de la FOU-BA derivada del Hospital "Prof. Dr. Juan P. Garrahan" con diagnóstico de osteogénesis imperfecta tipo III (OI). Nunca recibió atención odontológica y el motivo de consulta fue la apariencia estética de sus piezas dentarias. Se realizó el examen clínico y radiográfico arrojando el diagnóstico de DI tipo I asociada a OI. Conclusión: El tratamiento rehabilitador de la DI tipo I en los pacientes en crecimiento y desarrollo debe estar dirigido a intervenir de manera integral y tem-prana para resolver la apariencia estética y funcio-nal, evitar las repercusiones sociales y emocionales y acompañar a los pacientes y sus familias (AU)

Dentinogenesis imperfecta (DI) is an autosomal dominant inherited disorder that originates during the histodifferentiation stage of tooth development and alters dentin formation. It is considered a den-tin dysplasia that can affect both dentitions with an incidence of 1 in 6000 to 8000 births. The treatment of patients with DI is complex and multidisciplinary, it is a challenge for the dentist, since in general all the teeth are involved and it affects not only oral health but also the emotional and psychological aspect of the patients. Objective: To describe the comprehen-sive and rehabilitative treatment carried out in an adolescent patient with a diagnosis of DI type I. Case report: A 14-year-old female patient, who required dental attention at the Department of Pediatric Den-tistry of FOUBA and was referred from the Hospital "Prof. Dr. Juan P. Garrahan" with a diagnosis of os-teogenesis imperfecta type III (OI). The patient never received dental care and the reason for consultation was esthetic appearance of her teeth. A clinical and radiographic examination was performed, resulting in a diagnosis of DI type I associated with OI. Conclu-sion: Rehabilitative treatment of DI in growing and developing patients will be aimed at early and com-prehensive intervention to resolve esthetic and func-tional appearance, avoid social and emotional reper-cussions and accompany patients and their families (AU)

Tratamiento integral y control a 12 años de paciente con Dentinogénesis Imperfecta tipo I / Manejo clínico e seguimento de 12 anos em paciente com Dentinogênese Imperfeita tipo I / Clinical management and 12 years follow up in a patient with Dentinogenesis Imperfecta type I

La Dentinogénesis Imperfecta es una anomalía dentaria determinada genéticamente y caracterizada clínicamente por una apariencia ámbar opalescente de la dentina. Se presenta la resolución clínica, con seguimiento y control a 12 años de un paciente de 3 años de edad al momento de la consulta, con diagnóstico de Dentinogénesis Imperfecta tipo I asociada a Osteogénesis Imperfecta tipo IB. La identificación temprana de esta entidad y el tratamiento oportuno y multidisciplinario, contribuyen a mejorar el pronóstico de la misma.

Dentinogênese Imperfeita é uma anormalidade dentária geneticamente determinada, caracterizada clinicamente pela aparência opalescente e translúcida da dentina. Manejo clínico e seguimento de 12 anos são relatados, em um paciente de 3 anos com Dentinogênese Imperfeita tipo I associado à Osteogenesis Imperfecta tipo IB. O diagnóstico precoce.

Dentinogenesis Imperfecta is a geneti-cally determinated dental abnormality, characterized clinically by opalescent and translucent appearance of the den-tin. Clinical management and a 12 years follow up are reported, in a 3 years old patient with Dentinogenesis Imperfecta type I associated with Osteogenesis Im-perfecta type IB. The earlier diagnosis and the opportune and multidisciplinary treatment, led to improve the prognosis.

Dentinogénesis imperfecta tipo II: Reporte de caso de dos pacientes de un mismo grupo familiar / Dentinogenesis imperfecta type II: Case report of two patients from the same family group

Resumen Introducción: La dentinogenesis imperfecta (DI) se ha definido como una alteración hereditaria de carácter autosómico dominante, que se origina durante la etapa de histodiferenciación en el desarrollo dental, es un tipo de displasia del tejido dentinario que afecta la estructura de la dentina de una o ambas denticiones. Las complicaciones de la DI tiene un fuerte impacto en la calidad de vida de los pacientes ya que la parte funcional, estética y fonética se suelen encontrar afectadas y representan un reto importante para el tratante. El diagnóstico precoz y el tratamiento adecuado son necesarios para lograr mejores resultados funcionales y estéticos, minimizar las deficiencias nutricionales y trastornos psicosociales, permitiendo así mejorarla calidad de vida de la persona. Objetivo: Determinar el tipo de dentinogenesis, la relación familiar, y las características clínicas de cada paciente. Métodos: Acuden a la clínica de Odontología de la Universidad Católica de Cuenca, dos Hermanos procedentes de la ciudad de Cuenca-Ecuador, de las edades de 5 y 6 años respectivamente, por presentar múltiples lesiones cariosas, se puede evidencia destrucción generalizada del remanente coronario y pérdida prematura de las piezas dentales. Después de realizar el diagnóstico clínico y radiográfico, historia familiar, se estableció el diagnóstico de dentinogenesis imperfecta tipo II. Conclusión: es de gran importancia el diagnóstico oportuno y temprano de la dentinogenesis imperfecta para un tratamiento adecuado, debido a que la DI, afecto de mayormente a la dentición temporal, es fundamental las visitas al odontólogo, ya que este podrá diagnosticar tempranamente la patología y evitar grandes daños.

Abstract Introduction: Dentinogenesis imperfecta (DI) has been defined as a hereditary alteration of autosomal dominant character, which originates during the stage of histodifferentiation in dental development, is a type of dysplasia of dentinal tissue that affects the dentine structure of one or both dentitions. The complications of ID have a strong impact on the quality of life of patients since the functional, aesthetic and phonetic part are usually affected and represent an important challenge for the trafficker. Early diagnosis and adequate treatment are necessary to achieve better functional and aesthetic results, minimize nutritional deficiencies and psychosocial disorders, thus improving the quality of life of the person. Objective: To determine the type of dentinogenesis, the family relationship, and the clinical characteristics of each patient. Methods: Two brothers coming from the city of Cuenca-Ecuador, ages 5 and 6 years old, come to the Odontology clinic of the Catholic University of Cuenca, respectively, for presenting multiple carious lesions. Generalized destruction of the coronary remnant and premature loss of teeth. After performing the clinical and radiographic diagnosis, family history, the diagnosis of dentinogenesis imperfecta type II was established. Conclusion: the timely and early diagnosis of dentinogenesisimperfecta is of great importance for an adequate treatment, because the ID, affected mainly by the primary dentition, is fundamental visits to the dentist, since this will be able to diagnose the pathology at an early stage. Avoid big damages.

Diagnóstico diferencial e conduta clínica de um cisto folicular inflamatório mandibular / Differential diagnosis and management of inflammatory follicular cyst in mandibular anterior area

Este artigo descreve a dificuldade em diagnosticar um cisto folicular inflamatório na área anterior da mandíbula em um menino com dentinogênese imperfeita tipo I (DI-1). Um menino de 6 anos de idade, com DI-1, procurou tratamento devido ao comprometimento estético. O exame radiográfico revelou uma lesão periapical envolvendo os dentes decíduos incisivo central e lateral direitos. Esses dentes foram extraídos sem intercorrências. Após três meses, a criança se queixou de dor em um edema de cor azulada na mesma área. O diagnóstico diferencial foi de cisto folicular e a lesão foi acompanhada. Como os sinais e sintomas persistiram, o tratamento de escolha foi a descompressão da lesão, seguido por irrigação abundante e curetagem das paredes da lesão. O acompanhamento clínico e radiográfico, mostrou, após 6 meses, remissão da lesão, reparo ósseo, e erupção ativa dos incisivos permanentes. As características incomuns deste caso, fizeram com que o diagnóstico de cisto folicular inflamatório fosse dificultado.

This article reports the difficulties in diagnosing an inflammatory follicular cyst in the mandibular anterior area of a boy with type 1 dentinogenesis imperfecta (DI-1). A 6-year-old boy, with DI-1, sought treatment due to esthetic complaints. The radiographic examination revealed a periapical lesion involving the right primary central and lateral incisors. These teeth were extracted with no complications. After three months, the boy complained of pain in a blue-black edema in the same area. The differential diagnosis was of follicular cyst and the lesion was followed-up. As the signs and symptoms persisted, the treatment of choice was to decompress the lesion, followed by copious irrigation, and lesion's wall curettage. After six months, the clinical and radiographic follow-up showed lesion remission, bone repair, and active eruption of permanent incisors. The uncommon characteristics of the case make the diagnosis of inflammatory follicular cyst difficult.

Má oclusão em crianças e adolescentes com osteogênese imperfeita / Malocclusion in children and adolescents with Osteogenesis Imperfecta

A Osteogênese Imperfeita (OI) é uma doença genética que afeta o tecido conjuntivo e é causada por defeitos na síntese de colágeno tipo I. As alterações na produção do colágeno podem causar anomalias nos ossos da face, resultando em um crescimento craniofacial anormal e má-formação dos dentes e arcos dentários. Dentre as más oclusões, indivíduos com OI apresentam alta prevalência de mordida cruzada, mordida aberta e má oclusão de Classe III. Este estudo objetivou comparar os fatores associados com as más oclusões em crianças e adolescentes com OI e sem OI. Foi realizado um estudo transversal, pareado, com 39 indivíduos com OI e 39 sem OI, na faixa etária de três a 17 anos, e seus pais/responsáveis. A coleta de dados ocorreu por meio de um questionário direcionado aos pais/responsáveis e exame bucal das crianças e adolescentes atendidos nos setores de Ortopedia e Pediatria do Hospital das Clínicas da Universidade Federal de Minas Gerais (UFMG), em Belo Horizonte, região sudeste do Brasil. O instrumento continha itens sobre as características individuais, econômicas, hábitos comportamentais e história médica-odontológica dos filhos. O exame clínico identificou o tipo de respiração das crianças/adolescentes e a presença de anomalias dentárias, apinhamento dentário, má oclusão (mordida aberta anterior e mordida cruzada anterior/posterior) e dentinogênese imperfeita (DI). A fim de garantir a confiabilidade dos dados, foi realizado um treinamento teórico e a calibração prática dos examinadores. O treinamento teórico foi conduzido por meio de leitura sobre o tema e imagens em slides. Após essa etapa, seguindo um padrão ouro diagnóstico, foi realizada a calibração prática. Os valores kappa obtidos para cada condição examinada variaram de 0,82 a 0,96. A confiabilidade interna foi garantida por meio do testereteste do instrumento, que apresentou valores kappa entre 0,81 e 1,00. Em seguida foi realizado o estudo piloto com 5 pares de pais/responsáveis e crianças/adolescentes com OI e 5 sem OI. Após essas fases foi iniciado o estudo principal. Esta pesquisa foi aprovada pelo Comitê de Ética em Pesquisa da UFMG. Os dados foram analisados por meio do software Statistical Package for Social Science - SPSS® (versão 21.0). A média de idade das crianças/adolescentes foi de 7,9 anos (±4,5). Ao comparar o grupo de crianças/adolescentes com OI e sem OI verificou-se uma associação estatisticamente significativa entre ter OI e ser diagnosticado com anomalias dentárias (dentes conóides, dentes fusionados/ geminados, ausência clínica, rotação e microdontia) (p=0,001) e apinhamento dentário (p=0,001). A presença de OI foi estatisticamente associada com mordida aberta anterior (p=0,043), mordida cruzada anterior (p=0,045) e mordida cruzada posterior (p=0,004). No grupo com OI, a prevalência de mordida cruzada anterior foi associada com o uso de bifosfonatos (p=0,036) e com a presença de DI (p=0,004). A presença de mordida cruzada posterior foi associada com a presença de DI (p=0,006). A mordida aberta anterior não foi estatisticamente associada com as variáveis independentes (p>0,05). Concluiu-se que a prevalência de anomalias dentárias e de má oclusão foi maior entre as crianças/adolescentes com OI. No grupo com OI, ter DI foi associado a prevalência de mordida cruzada anterior e posterior entre as crianças/adolescentes. Fazer uso de bifosfonatos foi associado a mordida cruzada anterior.

Osteogenesis Imperfecta (OI) is a rare genetic disorder which affects connective tissue and it is caused by defects in type I collagen structure or synthesis. Alterations in collagen production might cause abnormal craniofacial growth and malformation of the teeth and dental arches. Among the malocclusions, individuals with OI have a high prevalence of crossbite, open bite and Class III malocclusion. This study aimed to compare the prevalence of malocclusion in children/adolescents with OI and without OI and to identify its associated factors. A cross-sectional study was performed of 39 individuals with OI and 39 without OI, aged from 3 to 17 years, and their parents/guardians. Children and adolescents with OI and without OI were matched by sex and age. They are treated in the Orthopedic and Pediatric outpatient clinics of a university hospital, in Belo Horizonte, southeastern Brazil. The instrument contained items on the individual, economic and oral-medical characteristics of the children. The clinical examination identified the type of breathing of the children / adolescents and the presence of dental anomalies, dental crowding, malocclusion (anterior open bite and anterior / posterior crossbite) and imperfect dentinogenesis (DI). In order to guarantee the reliability of the data, a theoretical training and the practical calibration of the examiners were carried out. Theoretical training was conducted through reading on the subject and images on slides. After this step, following a gold standard diagnosis, the practical calibration was performed. The kappa values obtained for each condition examined ranged from 0.82 to 0.96. The internal reliability was guaranteed by the test-retest of the instrument, which presented kappa values between 0.81 and 1.00. Then, the pilot study was carried out with 5 pairs of parents / guardians and children / adolescents with OI and 5 pairs without OI. After these phases the main study was started. This study was approved for the Research Ethics Committee of the Federal University of Minas Gerais. The mean age of children/adolescents was 7.9 years (± 4.5). When comparing the OI group and without OI, there was a statistically significant association between having OI and being diagnosed with dental anomalies (conoid teeth, fused/geminated teeth, clinical absence, rotation and microdontia) (p=0.001) and dental crowding (p=0.001). The presence of OI was statistically associated with anterior open bite (p=0.043), anterior crossbite (p=0.045) and posterior crossbite (p=0.004). In the OI group, the prevalence of anterior crossbite was associated with the use of bisphosphonates (p=0.036) and with the presence of ID (p=0.004). The presence of posterior crossbite was associated with the presence of ID (p=0.006). The anterior open bite was not statistically associated with the independent variables (p>0.05). It was concluded that the prevalence of dental anomalies and malocclusion was higher among children / adolescents with OI. In the group with OI, having DI was associated with the prevalence of anterior and posterior crossbite among children / adolescents. Using bisphosphonates was associated with anterior crossbite.

Genetic variants analysis and histological observation of teeth in a patient with hereditary opalescent dentin / 北京大学学报(医学版)

OBJECTIVE@#To analyze the clinical characteristics and the genetic cause of a Chinese patient with hereditary opalescent dentin, and to make an observation of the histologic and elemental features of the affected teeth.@*METHODS@#We enrolled a patient affected with hereditary opalescent dentin. The medical history was collected and clinical examinations were performed for the phenotypic analyses. The blood sample was collected for DNA extraction and PCRs of the coding sequence of DSPP were done for sanger sequencing. The teeth samples were collected for histological evaluation and elemental analysis.@*RESULTS@#The patient showed typical clinical manifestations of opalescent dentin and had enamel dysplasia and skeletal class III malocclusion. Several polymorphisms (c.727G>A, c.897A>G, c.2053_2054ins18bp, c.2548G>A, c.2645_2646ins9bp, c.2706T>C, c.2878A>G, c.3004A>G, c.3069_3086del18bp, c.3249A>C, c.3264T>C, c.3266_3400del135bp, c.3418A>G, c.3454G>A, c.3461_3462ins18bp, c.3606C>T) but no pathogenic mutations were identified in DSPP. The histological analyses of the patient's teeth showed characteristic abnormalities that were significantly different from normal teeth. The dentin tubules of the affected teeth were decreased in number and sparsed in arrangement, while in the control teeth, they were more regular. The enamel-dentin junction of the affected teeth was abnormal in its less scallopped outline compared with the control teeth under the scanning electronic microscopy. The Mg proportion of the patient's teeth (0.615 0%±0.261 6%) was lower than that of the control teeth (1.283 3%±0.322 1%), the P value was 0.040. The Ca proportion was the higher compared with the control teeth (34.865 0%±0.388 9% vs. 29.221 7%±2.248 4%), the P value was 0.015. The Ca/P ration of the patient's teeth was 1.981 2±0.019 3, which was higher than that of control teeth (1.775 9±0.111 6), the P value was 0.049. The differences of Mg, Ca proportion and Ca/P ration between the affected teeth and the control teeth were significant. The C and O proportion of the patient's teeth were lower and the P proportion was higher compared with the control teeth, however, the differences were not significant.@*CONCLUSION@#Our study of clinical manifestation analysis, genetic variants sequencing and histological observation has enlarged the phenotypic spectrum of hereditary opalescent dentin, and the genetic and histological results would contribute to further studies.

Temporary restorative treatment in children and adolescents with amelogenesis imperfecta: scoping review

Background: amelogenesis imperfecta (AI) is a group of disorders that affect the enamel of the teeth, either in quality or quantity. this alteration causes sensitivity and is associated with factors that could affect the strength of the adhesive bond of the restorative material. aim: to review the literature regarding the most used temporary restorative treatment in children and adolescents with AI. methods: this scoping review aimed to include case reports, literature reviews and original studies that evaluated restorative materials for the teeth of children and adolescents with AI. editorials, meeting abstracts and letters to the editor were excluded. the following electronic databases were used: Medline (Ovid), PubMed, Ebsco, Scopus (Elsevier) and Web of Science (Thomson Reuters). manual searches in the reference lists of the included articles were also carried out. finally, a search in Google Scholar restricted to the first 100 hits was performed. duplicates were eliminated upon identification. the search covered a period between the years of 2011 and 2016. PRISMA guidelines were used for reporting the review. the evidence ranking was carried out by means of the Oxford criteria. results: six articles met the eligibility criteria and were included in this scoping review. three articles were case reports, one was a review and two were original studies. tor the treatment of AI, direct or indirect composite resins were the most commonly used material of choice in the retrieved studies because they demonstrate greater longevity, aesthetics and function compared to the other materials used. conclusions: among children and adolescents with AI, the temporary restorative treatment that demonstrated better long-term results in permanent teeth was the direct and indirect composite resins. however, high quality studies should be conducted to confirm the results presented herein.

Manejo estomatológico del paciente con osteogénesis imperfecta: presentación de un caso / Dentistry handling patient with osteogenesis imperfecta. Report of a case

La osteogénesis imperfecta es un desorden hereditario que comprende unamplio espectro de presentaciones fenotípicas cuya principal característicaes la fragilidad ósea. La dentinogénesis imperfecta es un trastorno de origen hereditario en el desarrollo de la dentina, cuya incidencia se estimaen alrededor de 1:8,000. Objetivo: Implementar un abordaje estomatoló-gico con enfoque en nuevas tendencias rehabilitadoras y preventivas entratamientos para pacientes con dentinogénesis imperfecta. Presentación del caso: Paciente masculino de tres años de edad que acude al Servicio de Estomatología del Instituto Nacional de Pediatría, diagnosticado con osteogénesis imperfecta tipo IV. Se observan las coronas con coloración ámbar generalizada, atrición y pérdida de la estructura dentaria por caries en diversos órganos dentarios. Se realiza la rehabilitación bucal bajo anestesia general, restaurando los dientes afectados con coronas de acero cromoy colocando selladores de fosetas y fi suras en molares con esmalte íntegro así como fluoruro en barniz al 5 por ciento. Conclusiones: El tratamientode la dentinogénesis imperfecta depende de la severidad que presente elpaciente. Es esencial dar un seguimiento estrecho, resolviendo de manera oportuna las necesidades que vayan surgiendo con un tratamiento no tan radical como se recomendaba anteriormente.

Osteogenesis imperfecta is a hereditary disorder that encompasses abroad spectrum of phenotypic presentations whose main characteristicis bone fragility. Dentinogenesis imperfecta is a disorder in developinghereditary dentin whose incidence is estimated to about 1:8,000.Objective: Implement a focused approach dentistry new trends inrehabilitative and preventive treatments for patients with dentinogenesisimperfecta. Case report: Male patient age three who comes toDentistry Service of the National Institute of Pediatrics, diagnosed withosteogenesis imperfecta type IV. Crowns with generalized amber colorobserved oral rehabilitation is performed under general anesthesia,restoring the aff ected teeth with stainless steel crown and placingsealant in the molar pit and fi ssure enamel integral and placementof fl uoride varnish to 5%. Conclusions: Dentinogenesis imperfectatreatment depends on the severity with which the patient presents. Itis very important to closely monitor, timely meeting the needs as theyarise, conducting a treatment not as radical as it was in the beginning.

Dentinogenesis imperfecta type II: A case report with 17 years of follow-up

Dentinogenesis imperfecta is a dominant autosomal hereditary disorder of dentin formation that affects the deciduous and permanent teeth. Its etiology is characterized by inadequate cell differentiation during odontogenesis. The clinical characteristics of dentinogenesis imperfecta are discolored teeth with a translucency that varies from gray to brown or amber. Radiographically, the teeth exhibit pulp obliteration, thin and short roots, bell-shaped crowns, and periapical bone rarefaction. The aim of this report was to present a case of dentinogenesis imperfecta type II that was followed up over a 17-year period. This report also presents scanning electron microscopy images of the enamel and dentin, showing that both were altered in the affected teeth. The disease characteristics and the treatments that were administered are reported in this study to guide dentists with respect to the need for early diagnosis and adequate follow-up to avoid major sequelae.

Dentinogenesis Imperfecta: A Case Report of Five Patients in the Same Family Group / Dentinogenesis Imperfecta: Un Reporte de Caso de Cinco Pacientes en el Mismo Grupo Familiar

Dentinogenesis imperfecta (DI) is a type of dentin dysplasia that affects the dentin structure of one or both dentitions, which may be classified in three types. The aim of this report was to show the clinical and radiographic features of the four cases of DI in the same family group. Five brothers were checked clinically and radiographically. Two individuals were diagnosed, by their phenotypic features and medical history, with DI type I; two of them with DI type II and one case without signs of DI. It is important to know the features of dentinogenesis imperfecta to perform a comprehensive dental care, including the right diagnosis and an effective treatment plan.

La dentinogénesis imperfecta (DI) es un tipo de displasia de la dentina que afecta su estructura en una o ambas denticiones. La DI puede clasificarse en tres tipos. El objetivo de este informe fue demostrar las características clínicas y radiológicas de los cuatro casos de DI en un mismo grupo familiar. Cinco hermanos fueron controlados clínica y radiográficamente. Dos individuos fueron diagnosticados, por sus características fenotípicas y antecedentes clínicos, con el tipo de DI I; dos de ellos con DI de tipo II y un caso sin signos de DI. Es importante conocer las características de la dentinogénesis imperfecta para poder realizar una atención odontológica integral, lo que permitirá desarrollar un diagnóstico correcto y un plan de tratamiento efectivo.

Identification of a novel mutation of DSPP gene in a Chinese family affected with dentinogenesis imperfecta shields type II / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To identify the causative mutation in a Chinese family affected with dentinogenesis imperfecta shields type II (DGI-II).</p><p><b>METHODS</b>With informed consent obtained from all participants, peripheral blood or chorionic villi samples were collected from the family members. Genomic DNA was extracted using a standard SDS-proteinase K-phenol/chloroform method. The whole coding region and exon/intron boundaries of the DSPP gene were amplified with polymerase chain reaction (PCR) and subjected to Sanger sequencing. To confirm the pathogenicity of the identified mutation, an Alu I recognition sequence was introduced into the mutant allele using mismatch primers by semi-nested PCR. Restriction fragment length polymorphism (RFLP) analysis was then carried out for all family members and 60 unrelated healthy controls. Meanwhile, mini-DSPP constructs were conducted to confirm the effect of the mutation in vitro.</p><p><b>RESULTS</b>A splicing site mutation, c.52-1G>A, which was located upstream of exon 3, was found in all three patients and the fetus of the proband. Restriction analysis confirmed that all unaffected individuals and the 60 healthy controls did not carry the same mutation. The expression of minigene showed that the exon 3 of the DSPP gene was skipped during the transcription.</p><p><b>CONCLUSION</b>A novel pathogenic splicing-mutation c.52-1G>A has been detected in a Chinese family affected with DGI-II, which enabled prenatal diagnosis for the fetus of the proband.</p>

Alternativa en el tratamiento de la dentinogénesis imperfecta / Alternative treatment for dentinogenesis imperfecta

La dentinogénesis imperfecta es una afección hereditaria autosómica dominante que se origina en la etapa de histodiferenciación durante la odontogénesis. Constituye una forma de displasia mesodérmica localizada, caracterizada por una alteración de las proteínas dentinarias. El propósito de esta presentación es mostrar una alternativa en el tratamiento de esta afección en niños, utilizando coronas de acero inoxidables y resinas adhesivas compuestas. Se describe la forma en que se trató una niña de 8 años de edad que acudió a consulta por presentar dolor al ingerir alimentos fríos y dulces, cambios en la coloración y forma de los dientes, así como, alteraciones psicológicas en cuanto a su apariencia personal. Se corroboró la ausencia de antecedentes de esta afección en su familia. Se realizó examen clínico y radiográfico, donde se observaron las alteraciones en cuanto a forma y coloración de los dientes y pérdida de tejido dentario sobre todo en los primeros molares permanentes, con disminución de la dimensión vertical. Radiográficamente se constató la presencia de los folículos de sucesores permanentes, así como, estructuras óseas normales. Se diagnosticó dentinogénesis imperfecta. Se procedió a la colocación de coronas de acero inoxidable en los primeros molares permanentes y en los segundos molares temporales, para restaurar la dimensión vertical y solucionar las molestias a la ingestión de alimentos. Posteriormente se restauraron los dientes anteriores con resinas adhesivas compuestas. Es de vital importancia el diagnóstico y tratamiento temprano de esta afección para evitar grandes destrucciones de tejido, se muestra que en niños se debe realizar el tratamiento instalando coronas de acero inoxidables y restaurando los dientes con resinas adhesivas compuestas hasta esperar a la adultez donde se puedan realizar otros tipos de restauraciones definitivas(AU)

Dentinogenesis imperfecta is an inherited dominant autosomal condition originating during the histodifferentiation stage of odontogenesis. It is a form of localized mesodermal dysplasia characterized by an alteration in dentin proteins. The purpose of the study was to present an alternative treatment for dentinogenesis imperfecta in children, using stainless steel crowns and adhesive composite resins. A case is presented of an eight-year-old girl attending consultation for pain when eating cold or sweet food, changes in the color and shape of teeth, and psychological disorders related to her personal appearance. No history of the disease was found in the family. Clinical and radiographic examination revealed alterations in the shape and color of teeth as well as the loss of dental tissue, particularly in the first permanent molars, with a reduction in the vertical dimension. Radiographic examination confirmed the presence of permanent successor follicles as well as normal bone structures. Dentinogenesis imperfecta was diagnosed. Stainless steel crowns were placed over the first permanent molars and the second temporary molars with the purpose of restoring the vertical dimension and eliminating the discomfort when eating. Anterior teeth were then restored with adhesive composite resins. Early diagnosis and treatment of this condition is crucial to prevent large tissue destruction. As is shown in the study, treatment in children should consist in placing stainless steel crowns and restoring the teeth with adhesive composite resins until adult age, when other definitive restorations may be performed(AU)

Full-mouth rehabilitation with CAD/CAM monolithic zirconia in dentinogenesis imperfecta: a case report / 대한치과보철학회지

Dentinogenesis Imperfecta, with a high incidence rate of 1 : 6 - 8000, is inherited by autosomal dominant genetic transmission. This dental disorder causes discoloration of the teeth and the enamel and dentin show hypoplastic or hypocalcified defects which lead to frequent fractures and rapid attrition. Therefore, timely treatment is necessary for the preservation of the remaining teeth. In this particular case, a 19-year-old patient suffering from Type 1 dentinogenesis imperfecta showed signs of brownish hued teeth with multiple fractures, a loss of vertical dimension, excessive interdental space in the maxillary anterior teeth, and a lack of 5 posterior teeth. To improve the esthetic appearance of the anterior teeth, the vertical dimension was increased. Resin caps were used to alleviate the difficulty of taking an impression of multiple teeth at once. Monolithic zirconia materials used in this case showed high fracture strength and the ability to mask the discoloration of the teeth and therefore, functionally and esthetically favorable results were achieved.

Prevalence of dental anomalies among 7- to 35-year-old people in Hamadan, Iran in 2012-2013 as observed using panoramic radiographs

PURPOSE: This study was performed to evaluate the prevalence of all types and subtypes of dental anomalies among 7- to 35-year-old patients by using panoramic radiographs. MATERIALS AND METHODS: This cross-sectional study was conducted on 1649 people in Hamadan City, in 2012-2013. The prevalence of four types and 12 subtypes of dental anomalies was evaluated by two observers separately by using panoramic radiography. Dental anomalies were divided into four types: (a) shape (including fusion, taurodontism, and dens invagination); (b) number (including hypodontia, oligodontia, and hyperdontia); (c) structure (including amelogenesis imperfecta, dentinogenesis imperfecta, and dentin dysplasia); and (d) position (including displacement, impaction, and dilacerations). RESULTS: The reliability between the two observers was 79.56% according to the Kappa statistics. The prevalence of dental anomalies diagnosed by panoramic radiographs was 29%. Anomalies of position and number were the most common types of abnormalities, and anomalies of shape and structure were the least in both genders. Anomalies of impaction (44.76%), dilacerations (21.11%), hypodontia (15.88%), taurodontism (9.29%), and hyperdontia (6.76%) were the most common subtypes of dental anomalies. The anomalies of shape and number were more common in the age groups of 7-12 years and 13-15 years, respectively, while the anomalies of structure and position were more common among the other age groups. CONCLUSION: Anomalies of tooth position were the most common type of dental anomalies, and structure anomalies were the least in this Iranian population. The frequency and type of dental anomalies vary within and between populations, confirming the role of racial factors in the prevalence of dental anomalies.

Dentinogenesis imperfecta type II: approach for dental treatment / Dentinogênese imperfeita tipo II: abordagem de tratamento odontológico

Introduction: Dentinogenesis imperfecta (DI) is a hereditary dentin development disorder that affects both primary and permanent dentitions. The DI characteristics are discolored and translucent teeth ranging from gray to brownish-blue or amber. The enamel may split readily from the dentin when subjected to occlusal stress. Radiographically there are evident of cervical constrictions, short root and pulp chambers, and the root canals are smaller than normal or completely obliterated. The dental treatment choice can be decided on a case-by case-basis, considering the degree of dental tissue loss, and child age and cooperation. Objective: The aim of this case report was to describe the early dental treatment performed in a child affected by DI type II. Case Report: The treatment involved basic preventive procedures. Primary molars were worn to such an extent that the remained tooth structure was covered with composite resin to protect the exposed dentin. Resin-based sealant was applied in all first permanent molars. Posterior cross bite was treated with the expansion of the upper arch. Conclusion: The early treatment restored the patient´s vertical dimension resulting in acceptable esthetics and function for the permanent teeth to complete their eruption.

Introdução: A dentinogênese imperfeita (DI) é uma desordem hereditária no desenvolvimento da dentina, que afeta tanto a dentição decídua quanto a permanente. A DI apresenta como características dentes escurecidos e translúcidos que vão do cinza ao marrom ou âmbar. O esmalte pode se separar facilmente da dentina quando submetido ao estresse oclusal. Radiograficamente há evidencias de constrição cervical, raiz curta e polpas reduzidas, sendo os canais menores do que o comum ou completamente obliterados. A escolha do tratamento pode ser decidida com base no caso, considerando-se a idade da criança, grau de perda de tecido dentário e de cooperação do paciente. Objetivo: O objetivo deste relato de caso foi descrever o tratamento odontológico precoce realizado em uma criança afetada pela DI tipo II. Relato do Caso: O tratamento envolveu procedimentos básicos de prevenção. Molares decíduos foram desgastados, de tal forma que a estrutura remanescente do dente foi coberta com resina composta para proteger a dentina exposta. Selante resinoso foi aplicado em todos os primeiros molares permanentes. Mordida cruzada posterior foi tratada com a expansão do arco superior. Conclusão: O tratamento precoce restaurou a dimensão vertical do paciente resultando em estética e função aceitáveis para os dentes permanentes completarem sua erupção.

Capdepont's teeth - a hereditary dentin defect: case report & review / IDientes de capdepont - un defecto de dentina hereditario. reporte de caso y revisión de la literatura

Dentinogenesis imperfecta is an autosomal dominant genetic disorder with abnormal dentin structure affecting both primary and permanent dentitions leading to discolouration and attrition of teeth. Diagnosis is usually based on family history, a detailed clinical examination and pedigree construction. Treatment involves preservation of teeth, removal of infection, restoration of function and esthetics.

La dentinogénesis imperfecta es un trastorno genético autosómico dominante, caracterizado por una estructura anormal de la dentina, que afecta tanto la dentición temporal como permanente, generando decoloración y desgaste de los dientes. El diagnóstico generalmente se basa en la historia familiar, el examen clínico detallado y la construcción de pedigrí. Su tratamiento implica la conservación de los dientes, eliminación de infección, y la restauración de la función y la estética.

Soluções estéticas para alterações da odontogênese

As alterações na Odontogênese podem manifestar-se clinicamente de diversas formas e, pela varideade de alterações, muitas vezes são de difícil diagnóstico. O trabalho tem como objetivo realizar uma revisão de literatura sobre três alterações que geralmente causam bastante confusão entre os profissionais, que são a Amelogênese Imperfeita e a Dentinogênese Imperfeita que tem caráter hereditário e acometem todos os dentes, em ambas as dentições. Além desssa, também aborda as Hipoplasias de esmalte, qie podem ocorrer por fatores locais ou sistêmicos e afetar um ou mais dentes...

Dentinogénesis imperfecta: a propósito de un caso / Dentinogenesis imperfecta: report of a case

La dentinogénesis imperfecta (DI) es una anomalía hereditaria que afecta la dentina de una o ambas denticiones. Como la DI tipo I se relaciona con osteogénesis imperfecta, ante un niño con DI, el odontopediatra siempre debe estar alerta y descartar esta posibilidad. Las características orales en niños con DI incluyen fracturas del esmalte, atrición dental severa, sensibilidad, molares con coronas bulbosas que dificultan las restauraciones tradicionales y en algunos casos exposiciones pulpares e infecciones periapicales. El manejo terapéutico incluye la instauración de medidas preventivas precoces y un tratamiento restaurador para evitar las atriciones y la pérdida de dimensión vertical. Asimismo, las implicaciones estéticas pueden tener una importante repercusión en el desarrollo psicosocial de los niños con DI. El objetivo de este artículo es hacer una revisión bibliográfica actualizada sobre la DI y presentar un caso clínico en un paciente de 5½ años.

Dentinogenesis imperfecta (DI) is a hereditary disorder characterized by abnormal dentine structure affecting either the primary or both the primary and secondary dentitions. Dentinogenesis imperfecta type I is inherited with osteogenesis imperfecta (OI), for this reason pediatric dentistry must always be alert and to discard this possibility in a child with DI. The oral characteristics in children with DI include breaks of the enamel due to the underlying dentinal defect of mineralization, severe dental attrition, sensibility, molars with bulbous crowns with marked cervical constriction that make the traditional restorations difficult and in some cases pulp exposures and periapical infections. The therapeutic treatment includes the establishment of early preventive measures and a treatment to avoid the attritions and the loss of vertical dimension. Also, the aesthetic implications can have an important effect in the psychosocial development of the children with DI. The aim of this article is to do a bibliographical updated review on DI and to present a clinical case in a patient of 5½ years old.