Retratamiento multidisciplinar de una agenesia de un incisivo lateral superior con un implante cerámico monobloque. A propósito de un caso clínico / Multidisciplinary re-treatment of an agenesis of an upper lateral incisor with an one-piece ceramic implant. A clinical report

Introducción: Los implantes dentales de circona son una buena opción terapéutica que surge como alternativa a los implantes dentales convencionales de titanio, dadas sus excelentes propiedades de biocompatibilidad, baja acumulación de placa bacteriana y escaso infiltrado inflamatorio. El objetivo del presente caso clínico es describir la colocación de un implante monobloque de circona para reponer un incisivo lateral superior izquierdo en un paciente de 34 años de edad, para la posterior realización de una corona implantosoportada monolítica de circona. Descripción del caso: Se presenta un paciente varón de 34 años de edad, no fumador y sin antecedentes médico-quirúrgicos de interés (ASA I), que acudió a la consulta demandando una mejora en la estética de su sonrisa. El paciente presentaba una agenesia congénita en el incisivo lateral superior izquierdo que había sido tratada previamente con ortodoncia para cerrar dicho espacio. Tras el examen intraoral del paciente y el estudio radiográfico, se plantea la opción de tratamiento de abrir nuevamente el espacio mediante ortodoncia para rehabilitar la ausencia con un implante de circona, asegurando la estética que demandaba el paciente. Conclusiones: La rehabilitación mediante implantes de circona para el tratamiento de agenesias congénitas en incisivos laterales superiores, es una opción válida y efectiva, obteniendo resultados óptimos a nivel estético y funcional. Sin embargo, se necesitan más estudios clínicos con tamaños muestrales suficientes que comparen implantes de titanio y cerámicos con el fin de tener datos más concluyentes. (AU)

Introduction: Zirconia dental implants are a good therapeutic option emerging as an alternative to conventional titanium dental implants, given their excellent properties of biocompatibility, low bacterial plaque accumulation and low inflammatory infiltrate. The aim of the present clinical case is to describe the placement of a zirconia implant to replace an upper left lateral incisor in a 34-year-old patient, for the subsequent restoration of a monolithic implant-supported zirconia crown. Case description: A clinical case of a 34-year-old man is presented, nonsmoker and with no previous registered medical records (ASA I) who came to the dental clinic demanding an improvement in the aesthetics of his smile. The patient had a congenital agenesis of the left lateral incisor that had previously been treated with orthodontics to close the space. After the radiographic study and intraoral examination of the patient, the treatment option of reopening the space with a new phase of corrective orthodontics to rehabilitate the absence with a zirconia implant was proposed, ensuring the aesthetics demanded by the patient. Conclusions: Restoration using zirconia implants for the treatment of congenital agenesis in upper lateral incisors is a valid and effective option, obtaining optimal aesthetic and functional results. However, more clinical studies with sufficient sample sizes comparing titanium and ceramic implants are needed in order to have more conclusive data. (AU)

Retratamiento multidisciplinar de una agenesia de un incisivo lateral superior con un implante cerámico monobloque. A propósito de un caso clínico / Multidisciplinary re-treatment of an agenesis of an upper lateral incisor with an one-piece ceramic implant. A clinical report

Introducción: Los implantes dentales de circona son una buena opción terapéutica que surge como alternativa a los implantes dentales convencionales de titanio, dadas sus excelentes propiedades de biocompatibilidad, baja acumulación de placa bacteriana y escaso infiltrado inflamatorio. El objetivo del presente caso clínico es describir la colocación de un implante monobloque de circona para reponer un incisivo lateral superior izquierdo en un paciente de 34 años de edad, para la posterior realización de una corona implantosoportada monolítica de circona. Descripción del caso: Se presenta un paciente varón de 34 años de edad, no fumador y sin antecedentes médico-quirúrgicos de interés (ASA I), que acudió a la consulta demandando una mejora en la estética de su sonrisa. El paciente presentaba una agenesia congénita en el incisivo lateral superior izquierdo que había sido tratada previamente con ortodoncia para cerrar dicho espacio. Tras el examen intraoral del paciente y el estudio radiográfico, se plantea la opción de tratamiento de abrir nuevamente el espacio mediante ortodoncia para rehabilitar la ausencia con un implante de circona, asegurando la estética que demandaba el paciente. Conclusiones: La rehabilitación mediante implantes de circona para el tratamiento de agenesias congénitas en incisivos laterales superiores, es una opción válida y efectiva, obteniendo resultados óptimos a nivel estético y funcional. Sin embargo, se necesitan más estudios clínicos con tamaños muestrales suficientes que comparen implantes de titanio y cerámicos con el fin de tener datos más concluyentes. (AU)

Introduction: Zirconia dental implants are a good therapeutic option emerging as an alternative to conventional titanium dental implants, given their excellent properties of biocompatibility, low bacterial plaque accumulation and low inflammatory infiltrate. The aim of the present clinical case is to describe the placement of a zirconia implant to replace an upper left lateral incisor in a 34-year-old patient, for the subsequent restoration of a monolithic implant-supported zirconia crown. Case description: A clinical case of a 34-year-old man is presented, nonsmoker and with no previous registered medical records (ASA I) who came to the dental clinic demanding an improvement in the aesthetics of his smile. The patient had a congenital agenesis of the left lateral incisor that had previously been treated with orthodontics to close the space. After the radiographic study and intraoral examination of the patient, the treatment option of reopening the space with a new phase of corrective orthodontics to rehabilitate the absence with a zirconia implant was proposed, ensuring the aesthetics demanded by the patient. Conclusions: Restoration using zirconia implants for the treatment of congenital agenesis in upper lateral incisors is a valid and effective option, obtaining optimal aesthetic and functional results. However, more clinical studies with sufficient sample sizes comparing titanium and ceramic implants are needed in order to have more conclusive data. (AU)

Agenesia dental / Tooth agenesis

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Orofacial features and medical profile of eight individuals with Kabuki syndrome

Background: To evaluate oral, craniofacial and systemic characteristics of eight patients with Kabuki syndrome (KS), aged between 3 and 16 years old. Material and Methods: in this retrospective study, medical records of all patients were reviewed for information on family history, growth and development, medications in use, general systemic complications and oral and craniofacial characteristics. Results: the medical alterations found included recurrent infections such as pneumonia and otitis media (n = 6), cardiovascular malformations (n = 4), kidney abnormalities (n = 2), epilepsy (n = 2) and visual deficiency (n = 2). The individuals exhibited dental caries (n = 5), agenesis (n = 5), delayed tooth eruption (n = 4), cleft lip/palate (n = 2) enamel hypoplasia (n = 2), fusion (n = 1) and microdontia (n = 1). Conclusions: There was a great diversity of oral, craniofacial and systemic characteristic among the KS patients, suggesting that an inter-disciplinary approach should be taken for their dental treatment

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Oral findings in Williams-Beuren syndrome

Background: Williams-Beuren syndrome (WBS; OMIM #194050) is a developmental disorder characterized by congenital heart disease, intellectual disability, dysmorphic facial features and ophthalmologic abnormalities. Oral abnormalities are also described in clinical manifestations of the disease. This paper describes orofacial features in patients with WBS. Material and Methods: Seventeen patients with a confirmed molecular diagnosis of WBS were examined for oral abnormalities through clinical oral evaluations and panoramic radiography. Results: Malocclusion, specifically with dental midline deviation, and high-arched palate were the most common findings. Conclusions: The present results contribute to knowledge on the orofacial manifestations of WBS. Since such patients with WBS may develop severe oral abnormalities, early detection and treatment can help improve their quality of life (AU

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Nonsyndromic cleft lip and palate, gastric cancer and tooth agenesis

Background: To determine the frequency of nonsyndromic cleft lip and/or palate (NSCL/P) in first-degree relatives and to analyze the prevalence of tooth agenesis in patients with gastric cancer. Material and Methods: This cross-sectional, observational, case-control study included 798 patients attended at hospital Santa Casa in Montes Claros, Minas Gerais and Alfa Institute of Gastroenterology of the Federal University of the Minas Gerais. Information on basic demographic data and tooth agenesis of both groups and their family history of NSCL/P in first-degree relatives were evaluated. The collected information was stored in a database and analyzed using statistical program SPSS® version 21.0 and the values with p<0.05 were considered statistically significant. Results: Of the 798 patients, 113 (14.16%) consisted of the case group and 685 of the control group (85.84%). Non-Caucasian males were the most affected, although no differences among the groups were detected. Of all participants (n=798), 66 (8.27%) presented tooth agenesis and 25 (3.13%) presented oral cleft in first degree relative. Conclusions: Our results no found increase in the frequency of tooth agenesis in patients with gastric cancer and in the frequency of NSCL/P in the first-degree relatives of patients with gastric cancer (AU)

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Study on frequency of dental developmental alterations in a Mexican school-based population

BACKGROUND: The aim of this study was to know the distribution of dental developmental alterations in the population requesting stomatological attention at the Admission and Diagnosis Clinic of our institution in Mexico City. MATERIAL AND METHODS: We reviewed the archives and selected those files with developmental dental alterations. Analyzed data were diagnoses, age, gender, location and number of involved teeth. RESULTS: Of the 3.522 patients reviewed, 179 (5.1%) harbored 394 developmental dental alterations. Of them, 45.2% were males and 54.8% were females with a mean age of 16.7 years. The most common were supernumeraries, dental agenesia and dilaceration. Adults were 30.7% of the patients with dental developmental alterations. In them, the most common lesions were agenesia and supernumeraries. Mesiodens was the most frequently found supernumerary teeth (14.7%). CONCLUSIONS: Our finding that 30.7% of the affected patients were adults is an undescribed and unusually high proportion of patients that have implications on planning and prognosis of their stomatological treatment

Prevalencia de los patrones de anomalías dentarias (PAD) / Prevalence of dental anomaly patterns (DAP)

Introducción: Los patrones de anomalías dentarias (PAD) son alteraciones de los dientes que se manifiestan asociadas con mayor frecuencia de lo que cabría esperar por azar. Incluyen diversas alteraciones morfológicas, numéricas y trastornos eruptivos que probablemente comparten una etiopatogenia genética común. Conocemos la prevalencia de la mayoría de las anomalías integrantes de los PAD consideradas aisladamente, pero no la correspondiente a la entidad compleja. Objetivo: Analizar la prevalencia de los PAD en los últimos 100 pacientes estudiados consecutivamente en la unidad de Ortodoncia del hospital universitario Fundación Jiménez Díaz (uO-FJD). Método: Se examinaron retrospectivamente las radiografías panorámicas y fotografías intraorales de los últimos 100 pacientes de ambos sexos, etnia caucásica y edades comprendidas entre 8 y 15 años diagnosticados consecutivamente en la uO-FJD. Se registraron las siguientes anomalías: hipodoncia, microformas aisladas, tamaño dentario reducido, retraso eruptivo, infraoclusión de molares temporales, desplazamiento palatino de los caninos, transposición (CPmSup o C-IlatInf), distoangulación del segundo premolar inferior no erupcionado y taurodontismo. La asociación de dos o más anomalías se denominó PAD 'sensu stricto' y la presencia confirmada de una sóla anomalía, 'posible PAD'. Resultados: La prevalencia de los PAD 'sensu stricto' fué 18% y 'posible PAD' 16%. La de ambos tipos conjuntamente, 34%. Conclusiones: La prevalencia de los PADs es muy alta. Todo clínico debe estar familiarizado con este concepto, ya que el diagnóstico de una anomalía debe hacer sospechar la posible existencia -o posterior desarrollo- de otras, en el paciente o sus familiares (AU)

Introduction: Dental Anomaly Patterns (PAD) are dental abnormalities that are observed together more frequently than can be explained by chance alone. They include morphologic and numeric abnormalities together with eruption disorders that likely have shared genetic origins. The prevalence of some of these isolated anomalies, as hypodontia, is well known but the literature does not record the frequencies of PAD considered as groups of interrelated concomitant abnormalities. Aim: To analyze the frequency of DAP in a sample of 100 orthodontic patients consecutively diagnosed at the unit of Orthodontics of hospital universitario Fundación Jiménez Díaz (uO-FJD). Method: Panoramic radiographs and intraoral photographs of 100 orthodontic consecutively evaluated patients were retrospectively examined in order to analyze the following abnormalities: hypodontia, microforms and tooth-size reduction, delayed tooth formation, infraocclusion of deciduous molars, palatal displacement of canine, dental transposition (Mx.C-P1 or Mn.I2-C), distal angulation of unerupted mandibular second premolar and taurodontism. Ages ranged from 8 to 15 years. The association of two or more abnormalities was named PAD 'sensu stricto'; the presence of one confirmed abnormality was named 'possible PAD'. The frequency of both PADs was determined. Results: The prevalence of PAD 'sensu stricto' was 18% and 'possible PAD' 16%. Considered together both groups, the frequency of PAD reached 34%. Conclusions: The prevalence of PADs is very high. All clinicians possibly involved must recognize that diagnosis because one anomaly may be a marker of other undiagnosed or later appearing abnormalities in the same patient or their siblings (AU)

Síndrome de GAPO. Un nuevo caso con trombopatía funcional y síndrome de apnea-hipopnea del sueño / GAPO syndrome. A new case with functional thrombopathy and sleep apnea-hypopnea syndrome

Se presenta un nuevo caso de Síndrome de GAPO con otros antecedentes personales no descritos hasta ahora, su motivo de ingreso y evolución. El Síndrome de GAPO es una entidad prácticamente desconocida con sólo 35 casos en el mundo. Gracias a los casos comentados por los distintos autores está aumentando el conocimiento sobre posibles asociaciones con otras entidades o enfermedades, lo que apoya el estudio completo ante cada nuevo diagnóstico de Síndrome de GAPO

We report one case of GAPO syndrome with other personal history not described so far, its reason for admission and evolution. GAPO syndrome is an unknown entity with only 35 cases worldwide. Thanks to the cases discussed by other authors is increasing awareness of potential partnerships with other entities or diseases, supporting the full study on each new diagnosis of GAPO síndrome

Dental anomalies inside the cleft region in individuals with nonsyndromic cleft lip with or without cleft palate

BACKGROUND: Individuals with nonsyndromic cleft lip with or without cleft palate (NSCL±P) present high frequency of dental anomalies, which may represent complicating factors for dental treatment. The aim of this study was to investigate the prevalence of dental anomalies inside cleft area in a group of Brazilians with NSCL±P. MATERIAL AND METHODS: Retrospective analysis of 178 panoramic radiographs of patients aged from 12 to 45 years old and without history of tooth extraction or orthodontic treatment was performed. Association between cleft type and the prevalence of dental anomalies was assessed by chi-square test with a significance level set at pless than or equal to 0.05. RESULTS: Dental anomalies were found in 88.2% (n = 157) of the patients. Tooth agenesis (47.1%), giroversion (20%) and microdontia (15.5%) were the most common anomalies. Individuals with unilateral complete cleft lip and palate (CLP, p< 0.0001) were more affected by tooth agenesis than individuals with other cleft types. The maxillary lateral incisors were the most affected teeth (p < 0.0001). CONCLUSIONS: The present study revealed a high frequency of dental anomalies inside cleft region in NSCL±P patients, and further demonstrated that patients with unilateral complete CLP and bilateral incomplete CLP were frequently more affected by dental anomalies. Moreover, our results demonstrate that dental anomalies should be considered during dental treatment planning of individuals affected by NSCL±P

Displasia segmentaria odontomaxilar. Una rara patología de interés odontológico. Aporte de dos nuevos casos / Segmental odontomaxillary dysplasia. A rare pathology of dental interest. Two case reports

Se aportan dos nuevos casos de displasia segmentaria odontomaxilar. Ésta es una rara patología del desarrollo que se distingue por presentar defectos madurativos en el hueso, encía y dientes de un cuadrante de la maxila. Clínicamente se observan tres signos clínicos característicos: deformación unilateral de la maxila, agrandamiento gingival ipsilateral y agenesia de uno o dos premolares, raramente del primer molar. En ocasiones se asocian alteraciones faciales tales como borde mucocutáneo del labio superior desdibujado, pigmentación unilateral, eritema, hipopigmentación del labio superior e hipertricosis. Los casos presentes corresponden: uno, al género femenino y otro, al masculino. El diagnóstico de ambos se realizó en la adolescencia y hasta la fecha se encuentran en tratamiento ortodóncico para subsanar las repercusiones estéticas y funcionales generadas por esta patología. El objetivo de este trabajo es aportar dos nuevos casos a la casuística internacional estableciendo las características clínicas e histopatológicas más relevantes, comparándolos con otros casos publicados (AU)

We report two new cases of segmental odontomaxillary dysplasia (SOMD); a rare developmental pathology characterized by segmental maturation defects in bone, gingiva and teeth at one quadrant of the maxilla. It has three typical clinical signs: unilateral maxilla abnormality, ipsilateral gingival enlargement and one or two premolar agenesis, unusual in a first molar. Sometimes it's associated with facial alterations: mucocutaneous indistinct upper lip border, unilateral pigmentation erythema, hypopigmentation of upper lip and hypertrichosis. Cases presented correspond to male and female patients. Both were diagnosed in adolescence; until present day are under orthodontic treatment in order to minimize the aesthetic and functional disorders caused by this pathology. The purpose of this article is to report two new cases to international registers, establishing the most relevant clinical and histopathological features and comparing them with published studies (AU)

Exclusion of PAX9 and MSX1 mutation in six families affected by tooth agenesis. A genetic study and literature review

OBJECTIVES: In the present study, it is described the phenotypical analysis and the mutational screening, for genes PAX9 and MSX1, of six families affected by severe forms of tooth agenesis associated with other dental anomalies and systemic entities. Study DESIGN: Six families affected by severe tooth agenesis associated with other dental anomalies and systemic entities were included. Oral exploration, radiological examination, medical antecedents consideration and mutational screening for PAX9 and MSX1 were carried out. RESULTS: No mutations were discovered despite the fact that numerous teeth were missing. An important phenotypical variability was observed within the probands, not being possible to establish a parallelism with the patterns associated to previously described PAX9 and MSX1 mutations. CONCLUSIONS: These results bring us to conclude that probably other genes can determine phenotypical patterns of dental agenesis in the families studied, different than the ones described in the mutations of PAX9 and MSX1. Moreover, epigenetic factors can be involved, as those that can reduce gene dosage and other post-transcriptional modulation agents, causing dental agenesis associated or not with systemic anomalies

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Genetic basis of dental agenesis - molecular genetics patterning clinical dentistry

Tooth agenesis is one of the most common congenital malformations in humans. Hypodontia can either occur as an isolated condition (non-syndromic hypodontia) or can be associated with a syndrome (syndromic hypodontia), highlighting the heterogeneity of the condition. Though much progress has been made to identify the developmental basis of tooth formation, knowledge of the etiological basis of inherited tooth loss is still lacking. To date, the mutation spectra of non-syndromic form of familial and sporadic tooth agenesis in humans have revealed defects in various such genes that encode transcription factors, MSX1 and PAX9 or genes that code for a protein involved in canonical Wnt signaling (AXIN2), and a transmembrane receptor of fibroblast growth factors (FGFR1). The aim of this paper is to review the current literature on the molecular mechanisms responsible for selective hypodontia in humans and to present a detailed overview of causative genes and syndromes associated with hypodontia

Displasia ectodérmica: relato de quatro casos / Ectodermal dysplasia: four cases report

Displasia ectodérmica (DE) corresponde a um grupo de enfermidades caracterizadas por alterações primárias nas estruturas de origem ectodérmica. Clinicamente, são observadas alterações nos pelos, unhas, glândulas sudoríparas e dentes. Existem diferentes propostas de classificação para as DE, considerando aspectos clínicos e, atualmente, bases moleculares de mutações genéticas. Os pilares do tratamento são aconselhamento genético e medidas paliativas. Descrevem-se quatro casos de DE com diferentes apresentações clínicas seguidos por uma breve discussão sobre o assunto (AU)

Ectodermal dysplasia (ED) is a group of diseases characterized by abnormalities in structures of ectodermal origin. Clinically, changes are observed in hair, nails, sweat glands and teeth. There are different proposals for classification, considering clinical and, currently, the molecular bases of geneticmutations. The base of treatment is genetic counseling and palliative measures. Four cases of ectodermal dysplasia with different clinical presentation are described and followed by a brief review about this subject (AU)

Agenesia dental: Epidemiología, clínica y genética en pacientes antioqueños / Tooth agenesis: Epidemiological, clinical and genetic analysis in patients from Antioquia

Introducción: La odontogénesis es un proceso molecular complejo, susceptible a errores durante las etapas del desarrollo, que puede generar alteraciones, como agenesias dentales. Metodología: Se realizó una descripción epidemiológica de la agenesia dental en 814 pacientes de la Facultad de Odontología de la Universidad de Antioquía entre 2006 y 2008, con base en la historia clínica y radiografías panorámicas. Se evaluó clínica y genéticamente una familia con agenesia dental no sindrómica, se determinó el tipo de segregación y patrón de herencia con el fin de identificar la implicación de los genes MSX1 y PAX9 en la agenesia. Se realizó la Reacción de Polimerización en Cadena (PCR), genotipificación y análisis de ligamiento. Se seleccionaron los marcadores D4S2285 y D4S432 (MSX1) y D14S288 y D14S70 (PAX9) por su alto índice de heterocigocidad. Resultados: El análisis epidemiológico reveló mayor prevalencia de agenesias en la dentición permanente, en el sexo femenino, y los dientes más afectados fueron los tercero molares seguidos de los incisivos laterales superiores. Los resultados genéticos indicaron un posible ligamiento entre el gen MSX1 (LOD 0,97) con la agenesia dental y a su vez se identificó una posible asociación al azar del gen PAX9 (LOD -0,28) en la familia estudiada (AU)

Introduction: Odontogenesis is a complex molecular process, open to failures during different stages of development, that may lead to alterations like tooth agenesis. Methods: An epidemiological description was made about tooth agenesis in 814 patients in the Faculty of Dentistry of the Antioquia University between 2006 and 2008, using clinical histories and panoramic X-rays, Furthermore, a family with non-syndromic tooth agenesis, was evaluated clinically and genetically to determine the segregation type and the inheritance pattern, and to identify the possible implication of the MSX1 and PAX9 genes. The analysis of those genes was valuated through Polymerase Chain Reaction (PCR), genotyping and linkage analysis. The markers D4S2285 and D4S432 for MSX1 and D14S288 and D14S70 for PAX9, were selected by their high heterozigocity index. Results: The epidemiological analysis revealed a high prevalence of agenesis in permanent dentition and in the female gender, with predilection for third molars, followed by upper lateral incisors. The genetic findings showed a possible linkage between MSX1 gene (LOD 0.97) and the anomaly. At the same time a possible random association was found between the PAX9 gene (LOD -0.28) and the anomaly in the studied family (AU)

Displasia ectodérmica hipohidrótica: Reporte de casos / Hypohydrotic ectodermal dysplasia: Report of cases

La Displasia Ectodérmica Hipohidrótica (DEH) es una genodermatosis que se caracteriza por presentar alteraciones en las estructuras derivadas del ectodermo y frecuentemente se da la triada: hipohidrosis, hipotricosis e hipodoncia. El síndrome puede manifestarse como herencia autosómica dominante o recesiva y también como herencia ligada al sexo. El objetivo de este artículo es presentar 6 casos clínicos atendidos en la clínica del Niño de la Facultad de odontología de la Universidad de Antioquia, entre 1998 y 2011. Se muestran las características faciales y dentales de una familia con displasia ectodérmica hipohidrótica con herencia ligada al cromosoma X. Para el tratamiento de este síndrome se propone un protocolo de manejo en forma integral y multidisciplinario (AU)

Ectodermal Hypohidrotic Dysplasia (EHD) is a genodermatosis characterized by the presence of the ectoderm-derived structures alterations and often the triad is given: Hypohidrosis, Hypotrichosis and hypodontia. The purpose of this article is to present 6 clinic cases attended in the Clinic of the Children Dental Care of the Faculty of dentistry of the University of Antioquia between 1998 and 2011. It´s document the oral and facial characteristics in this pathology in a family with inheritance associated with the X chromosome. For the treatment of this syndrome a protocol of management in multidisciplinary and integral form is proposed (AU)

Anomalías y displasias dentarias de origen genético-hereditario / Inherited dental abnormalities and dysplasias

Las alteraciones del desarrollo embriológico de la dentición provocan anomalías y displasias dentarias. Los factores etiopatogénicos implicados en las alteraciones del desarrollo dentario son básicamente dos: genéticos y ambientales. Según la fase del desarrollo en que afecten al órgano del esmalte y a los tejidos dentarios, aparecerán diferentes anomalías y/o displasias dentales. El control genético del desarrollo dentario se lleva a cabo mediante dos procesos: a) control de la histogénesis del esmalte y la dentina, y b) la especificación del tipo, tamaño y posición de cada diente. La mutación de los genes implicados en la amelogénesis (AMELX, ENAM, MMP20 y KLK4) o en la dentinogénesis (DSPP) produce alteraciones del desarrollo dentario aisladas o no sindrómicas. Por el contrario, las mutaciones de los genes reguladores morfogenéticos involucrados en la determinación de la posición y el desarrollo precoz de los órganos dentarios (genes homeobox), además de alterar la morfodiferenciación dentaria, tienen efectos pleiotrópicos y afectan a otros órganos, provocando síndromes hereditarios en los que uno de sus rasgos es la alteración dentaria. En este artículo se revisan las principales anomalías y displasias dentarias de causa genético-hereditaria (AU)

Alterations of the embryologic development of the dentition cause dental anomalies and dysplasias. The causing factors involved in the disturbances of tooth development are basically two: genetic and environmental factors. Depending on the phase of tooth development when the factors act, they will appear different dental anomalies and dysplasias. Genetic control of tooth development is carried out through two processes: a) control of amelogenesis and dentinogenesis, and b) the specification of the type, size and position of each tooth. Mutation of genes involved in amelogenesis (AMELX, ENAM, MMP20 and KLK4) and dentinogenesis (DSPP) produces non-syndromic alterations of tooth development. On the contrary, mutations in morphogenetic regulatory genes involved in determining the position and the early development of the teeth (homeobox genes), not only alter teeth morpho differentiation, but also have pleiotropic effects affecting other organs, causing hereditary syndromes in which one of its features is the presence of dental abnormalities. Dental anomalies and dysplasias of genetic origin are reviewed in this article (AU)

Investigation of the maxillary lateral incisor agenesis and associated dental anomalies in an orthodontic patient population

Objectives: The aim of this study was to investigate the prevalence of maxillary lateral incisor (MLI) agenesis and associated dental anomalies as well as skeletal patterns in an orthodontic population, and then to compare it with the prevalence of these anomalies in the general population.Study Design: The material of the present study included the records of the 3872 orthodontic patients. The followings were recorded for each subject with the agenesis of MLI: Age, sex, unilateral or bilateral absence, anteriorposterior skeletal relationship of the maxilla and mandible, and presence of associated dental anomalies. The occurrence of these anomalies was compared with data previously reported for the general populations. Results: Of the 3872 patients examined, 94 were found to have agenesis of the MLI, representing a prevalence of 2.4 per cent, with females being more frequently observed. The most commonly found associated anomalies were ectopic eruption of maxillary canines and reduced or peg- shaped contralateral incisor with the frequencies of 21.3 per cent and 20.2 per cent respectively.Conclusions: Patients with agenesis of MLI showed a significantly higher prevalence of skeletal Class III malocclusion compared with the general population. The prevalence of ectopic eruption, transposition, and transmigration of the maxillary canine and reduced or peg- shaped MLIs were significantly increased (AU)

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Estudio transversal de hipodoncias no sindrómicas en una muestra de pacientes infantiles / Cross-sectional study of nonsyndromic hypodontia in a sample of pediatric patients

Introducción: Denominamos agenesia la falta de formación o desarrollo de los gérmenes dentales, pudiendo encontrarnos con que uno o más dientes, en dentición temporal o permanente, se encuentran ausentes. Las agenesias en dentición temporal son poco comunes (menos del 1%); sin embargo, en dentición permanente constituyen las alteraciones más frecuentes del desarrollo dentario (1,6-9,6%). El objetivo de este estudio fue determinar la prevalencia de agenesias en dentición permanente no asociadas a síndromes y comprobar si su distribución se cumplía con respecto a otros trabajos de referencia. Métodos: En una muestra de 387 pacientes entre 6,4 y 15,8 años, (189 mujeres y 198 varones) se estudiaron las ortopantomografías de las historias clínicas pertenecientes al Departamento de Estomatología IV de la Facultad de Odontología de la Universidad Complutense de Madrid. Los resultados de frecuencia y porcentaje de agenesia fueron analizados mediante tablas de contingencia, el test chi-cuadrado y el test exacto de Fisher. Para la comparación de dos medias de edad se ha utilizado la t de Student. Resultados: Presentaron algún tipo de ausencia dental un 6,5% (n=25). Los dientes ausentes en un mayor número de casos fueron: segundo premolar inferior derecho de forma aislada 32% (n=8),segundos premolares inferiores bilateralmente 28% (n=7) e incisivos laterales superiores bilateralmente 12% (n=3).Conclusiones: Las agenesias en la muestra fueron más frecuentes en mujeres que en varones. Los dientes ausentes en mayor proporción fueron los segundos premolares inferiores, existiendo mayor frecuencia de ausencia bilateral que unilateral de los mismos (AU)

Introduction: We refer to agenesia as the lack of formation or development of the dental germs, the finding of one or more teeth, in temporary or permanent dentition, being absent. Agenesia in temporary teeth is rather uncommon (less than1%); however, in permanent dentition, this is the most frequent dental development disorder (1.6-9.6%). The objective of this study was to determine the prevalence of agenesia in permanent dentition not associated to syndromes and to verify if their distribution was in line with other works of reference. Methods: In a sample of 387 patients between 6.4 and 15.8 years of age (189 female and 198 male), we studied the or thopantomographs from the clinical histories belonging to the Department of Dentistry IV of the School of Dentistry of the Universidad Complutense de Madrid. The results of frequency and percentage of agenesia were analysed by means of contingency tables , the chi-square test and the Fisher's exact test. For the comparison of the two mean ages Student’s t-test was used. Results: About 6.5% (n=25) presented some type of dental absence. The absent teeth in the majority of the cases were: second lower right premolar, unilaterally 32% (n=8), second lower premolars, bilaterally 28% (n=7) and upper lateral incisors, bilaterally 12% (n=3).Conclusions: The agenesia in the same was more frequent in females than in males. Most of the absent teeth were the second lower premolars, with the greater frequency of bilateral absence than unilateral (AU)

Asociación de taurodontismo con hipodoncia: ¿puede incluirse el taurodontismo en los "patrones de anomalías dentarias asociadas"? / Association between hypodontia and taurodontism. Could taurodontism be included in DAP?

INTRODUCCIÓN: "Los patrones de anomalías dentarias asociadas” (PAD) comprenden un conjunto de alteraciones dentarias que se presentan juntas con mucha más frecuencia que la explicada por simple azar. Existe controversia sobre si puede incluirse entre los PAD el taurodontismo. OBJETIVO: Demostrar la hipótesis de que existe una asociación entre hipodoncia y taurodontismo, a fin de dilucidar si puede incluirse este último en los PAD. MÉTODO: Se analizó la presencia de taurodontismo en el 36 en las ortopantomografías de una muestra de 100 pacientes con hipodoncia y un grupo control de otros 100 sin hipodoncia obtenidos de la base de datos de la Unidad de Ortodoncia de la Fundación Jiménez Díaz. El diagnóstico de taurodontismo se realizó visualmente. Para ello se comparó la morfología pulpar del paciente con un esquema de 4 imágenes representando una cámara pulpar normal, hipotaurodontismo, y taurodontismo moderado y severo. La posible asociación entre el taurodontismo y la agenesia se evaluó mediante la prueba exacta de Fisher. RESULTADOS: El diagnóstico visual de taurodontismo se hizo en el 9% de los pacientes con hipodoncia y el 3% de los controles. Esta diferencia no alcanzaba significación estadística. CONCLUSIÓN: Aunque la presencia de taurodontismo fue mayor en los pacientes con agenesia que en los controles, los resultados obtenidos no permiten la incuestionable inclusión de esta anomalía en los PAD. Será necesaria la realización de más estudios para aclarar esta posible asociación (AU)

Dental anomaly patterns (DAP) are associated dental abnormalities that are observed together much more frequently than can be explained by chance alone. The inclusion of taurodontism within the group of DAP has been met with controversy. OBJECTIVE: To investigate the association between hypodontia and taurodontism to support its possible inclusion in the DAP. METHODS: Presence of taurodontism of tooth 36 was analyzed in OPGs performed in 100 patients with hypodontia and 100 control subjects obtained from the data base of the Orthodontics Unit of Fundación Jiménez Díaz Hospital (Madrid). To define taurodontism a visual method was used, consisting of a chart comparison with 4 images depicting normal pulpchamber, hypotaurodontism, and moderate and severe taurodontism. Possible association between taurodontism and agenesia was assessed by means of Fisher’s exact test (..) (AU)