Displasia frontonasal / Frontonasal dysplasia

Los trastornos del desarrollo son aquellos padecimientos que se manifiestan por defectos en la embriogénesis de la región afectada. La cara del ser humano comienza su formación alrededor de la cuarta semana de vida intrauterina y se manifiesta gracias a la fusión de cinco prominencias: dos pares conocidas como maxilar y mandibular, y una impar conocida como frontonasal. Cuando esta fusión no se lleva a cabo de una forma óptima, aparecen numerosas alteraciones del desarrollo como el labio y paladar hendido, y la displasia frontonasal. La displasia frontonasal produce frecuentemente afecciones oculares, nasales y orales. Dentro de las manifestaciones orales destacan una forma atípica de hendidura labial o palatina, afecciones dentales y alteraciones en el crecimiento de la cara. Dada la gran relación que este padecimiento tiene con la cavidad oral resulta importante que el odontólogo conozca la etiología y las características clínicas de este trastorno (AU)

Developmental disorders are those conditions that are manifested by defects in the embryogenesis of the affected region. The human face begins its formation around the fourth week of intrauterine life and is manifested thanks to the fusion of five prominences: two pairs known as maxillary and mandibular and odd one known as frontonasal. When this fusion is not carried out in an optimal way, numerous developmental alterations appear, such as cleft lip and palate and frontonasal dysplasia. Frontonasal dysplasia frequently produces ocular, nasal and oral affections. Among the oral manifestations, and atypical form of clef lip and/or palate, dental affections and alterations in the growth of the face stand out. Given the great relationship that this condition has with the oral cavity, it is important for the dentist to know the etiology and clinical characteristics of this disorder (AU)

Craniofacial abnormalities and malocclusion findings in sickle cell disease related to ethnic-racial populations: a critical review of the literature

Introduction: sickle Cell Disease (SCD) is an inherited, hematological, chronic disease that mostly affects racial/ethnic groups. The dental literature discusses SCD's oral symptoms, such as malocclusion and craniofacial abnormalities, without considering the significance of a racial/ethnic perspective. Objective: this article critically reviewed the findings of the studies based on a racial/ethnic standpoint and SCD landmarks. Sources of data: primary and secondary searches selected 146 studies from four scientific literature databases. Two reviewers independently extracted data from eleven included studies. Synthesis of data: most studies used lateral cephalometry and reported craniofacial abnormalities and malocclusions, such as maxillary protrusion, class II skeletal patterns, vertical facial growth patterns, convex facial profile, mandibular retrusion, and the posterior rotation of the jaw. However, there is no mention of racial or ethnic cephalometric patterns to support these findings in the studied populations. In addition, a misunderstanding occurs when overlooking the different periods of growth or ages within and between the studied groups. Furthermore, there is no mention of previous orthodontic treatment. By contrast, there is a lack of information about the medically compromised health status of people with SCD, such as the life period of SCD's diagnosis; the number and timing of blood transfusions; the medical history of hospitalizations, vaso-occlusive crises, or hydroxyurea use. Conclusion: racial and ethnic concerns for the diagnosis of malocclusions and craniofacial anomalies, as well as SCD landmarks, are underappreciated in the examined dental literature. Discarding them also demonstrates institutional racism.

Introdução: a doença falciforme é uma doença hematológica, hereditária, crônica, que afeta principalmente, a população negra, em escala global. Na literatura odontológica, os achados craniofaciais e oclusais relacionados à doença falciforme são discordantes, mas, em comum, desconsideram a perspectiva racial. Objetivo: este artigo revisou criticamente a literatura odontológica e discutiu os achados encontrados na perspectiva racial/étnica. Fonte dos dados: estudos primários e secundários selecionaram 146 ocorrências de quatro bases de dados da literatura científica. Dois revisores extraíram independentemente os dados dos onze estudos incluídos. Síntese dos dados: com base na cefalometria lateral, a maioria dos estudos concluiu que as anormalidades craniofaciais e maloclusões, como protrusão maxilar, padrão esquelético de classe II, padrão de crescimento facial vertical, perfil facial convexo, retrusão mandibular e rotação posterior da mandíbula foram os mais comuns achados para pessoas com doença falciforme. No entanto, ao considerar a perspectiva étnico-racial, não há menção na maioria dos estudos de ajustes dos padrões cefalométricos específicos para as populações racializadas, nem tampouco são consideradas características do grupo populacional e da doença falciforme em si, como sua severidade, o momento de vida em que o diagnóstico ocorreu, número e período de hemotransfusões, internações, crises vaso-oclusivas ou uso de hidroxiureia. Além disso, a ampla faixa etária em diferentes períodos de crescimento ósseo e a ausência de informação sobre tratamento ortodôntico prévio foram observadas. Conclusão: há omissão sobre considerações étnico-raciais para relatar anormalidades craniofaciais e maloclusões sobre doença falciforme na literatura odontológica revisada. Isto pode ser uma expressão do racismo.

Agujero Timpánico bilateral. Análisis de caso desde la literatura / Bilateral tympanic hole. Case analysis from the literature

La pared del conducto auditivo externo (CAE) parte de la formación del hueso timpánico; integrándose posteriormente a la porción petrosa del hueso temporal. El agujero timpánico o foramen de Huschke corresponde a un defecto en la osificación en donde existe fusión incompleta de porciones anteriores y posteriores del anillo timpánico dejando una abertura que comunica el CAE hacia anterior. Su presencia es normal hasta los 5 años de edad, tiempo en que se debiese obliterar. Su incidencia es baja (3-24%), pero la persistencia en adulto, conlleva sintomatología inespecífica caracterizada por otalgia, dolor en articulación temporomandibular (ATM), tinnitus, hipoacusia o manifestaciones complejas como descarga salival en CAE durante la masticación. Clínicamente puede complicar procedimientos de infiltración y artroscopias de ATM. Rara vez ocasiona, en pacientes mayores de 50 años, herniación de la cabeza del cóndilo mandibular. Su diagnóstico puede ser clínico por medio de otoscopia, donde se observa protuberancia de tejido en pared anterior del CAE, que aumenta de tamaño con la boca cerrada. También puede ser imagenológico con una tomografía computarizada. El tratamiento incluye desde medidas conservadoras para manejo del dolor e inflamación, hasta quirúrgicas con la implantación de injertos, placas o prótesis para cerrar la estructura o para reemplazar el cóndilo mandibular. El presente estudio pretende aportar incidencia dentro del área de estudio. Se analiza por observación directa, cráneo seco, completo, masculino, edad entre 12 a 15 años (según morfología del cóndilo mandibular y erupción dental). Se observa agujero de Huschke, bilateral, ambos permeables de diámetro 4 mm en ambos casos, determinados con regla milimetrada. La relevancia del defecto se asocia a la práctica clínica de otorrinolaringólogos, cirujanos maxilofaciales y odontólogos, ya sea como diagnóstico diferencial asociado a los síntomas inespecíficos, como para procedimientos más invasivos en la zona tales como infiltraciones o artroscopias de ATM

The wall of the external auditory canal (EAC) starts from the formation of the tympanic bone; later it is integrated to the petrous portion of the temporal bone. The tympanic foramen or foramen of Huschke corresponds to a defect in ossification where there is incomplete fusion of the anterior and posterior portions of the tympanic ring leaving an opening that communicates the EAC to its anterior aspect. Its presence is normal until 5 years of age, when it should be absolutely obliterated. Its incidence is low (3-24%), but its persistence in adults leads to non specific symptoms characterized by otalgia, pain in the temporomandibular joint (TMJ), tinnitus, hearing loss, or complex manifestations such as salivary discharge in the CAE during mastication. Clinically, it may complicate TMJ infiltration and arthroscopy procedures. It rarely causes herniation of the mandibular condyle head in patients older than 50 years. Its diagnosis can be clinical by means of otoscopy, where tissue protrusion is observed in the anterior wall of the CAE, which increases in size when the mouth is closed. It can also be imaging with computed tomography. Treatment includes from conservative measures to treat pain and inflammation, to surgical measures with the implantation of grafts, plates or prosthesis to close the structure or to replace the mandibular condyle. The present study aims to provide incidence within the study area. It is analyzed by direct observation, dry skull, complete, male, age between 12 to 15 years (according to mandibular condyle morphology and dental eruption). Huschke's foramen was observed, bilateral, both permeable, diameter 4mm in both cases, determined with a millimeter ruler. The relevance of the defect is associated with the clinical practice of otolaryngologists, maxillofacial surgeons and dentists, either as a differential diagnosis associated with nonspecific symptoms, or for more invasive procedures in the area such as infiltrations or TMJ arthroscopies.

Abordaje quirúrgico de tumor pardo de maxilar en síndrome de Sagliker / Surgical approach of brown maxillary tumor in Sagliker syndrome

El síndrome de Sagliker es el conjunto de alteraciones craneofaciales y esqueléticas producidas por la elevación de la hormona paratiroidea y la alteración en el metabolismo del calcio, secundarios a la insuficiencia renal crónica. Consiste en una osteodistrosfia renal que se manifiesta como apariencia desfigurada del rostro, entre las más comunes, la protrusión del maxilar y de la mandíbula, la hiperplasia de los tejidos blandos del paladar, la pérdida de la anatomía nasal, la deformidad dental y de los dedos y una estatura baja. Este síndrome fue descrito por Sagliker et al. en 2004. Se ha reportado una incidencia del 0,5 % de los pacientes que se encuentran en hemodiálisis y se presenta con mayor frecuencia en el sexo femenino entre los 18 y los 39 años de. En este caso se presenta el manejo y tratamiento de un paciente con tumor pardo de maxilar con síndrome de Sagliker que acude al servicio de cirugía oral y maxilofacial del Hospital Nacional Rosales de El Salvador

Sagliker syndrome is the set of craniofacial and skeletal alterations produced by elevated parathyroid hormone and altered calcium metabolism, secondary to chronic renal failure. It consists of a renal osteodystrophy that manifests itself as a disfigured appearance of the face, among the most common, the protrusion of the maxilla and mandible, hyperplasia of the soft tissues of the palate, loss of nasal anatomy, dental deformity and fingers and short stature. This syndrome was described by Sagliker et al. in 2004. An incidence of 0.5% of patients on hemodialysis has been reported and it occurs more frequently in females between 18 and 39 years of age. In this case, the management and treatment of a patient with a brown maxillary tumor with Sagliker syndrome who attends the oral and maxillofacial surgery service of the Rosales National Hospital in El Salvador.

Analysis of gene variation and clinical characteristics of Wiedemann-Steiner syndrome / 中华儿科杂志

Objective: To summarize and analyze the clinical characteristics and gene mutations of 6 patients with Wiedemann-Steiner syndrome (WDSTS). Methods: To review and analyze the clinical data, including general conditions, clinical manifestations, growth hormone, cranial or pituitary gland magnetic resonance imaging (MRI),gene results and other data, 6 cases with WDSTS admitted to the Department of Endocrinology, Genetics and Metabolism of Jiangxi Provincial Children's Hospital and the Department of Child Care of Pingxiang Maternity and Child Care from April 2017 to February 2021 were recruited. Results: Of the 6 patients, 2 were male and 4 were female. The age of the first visit ranged from 1.0 to 11.2 years. All the 6 children presented with growth retardation and mental retardation and they all had typical facial dysmorphism and hypertrichosis (mainly on the back and limbs). Among them, case 5 had a growth hormone deficiency, and case 2 and 4 had abnormalities revealed by cranial MRI. Variations in KMT2A gene were identified in these 6 patients: c.10900+2T>C,c.10837C>T(p.Gln3613*), c.4332G>A(p.E1444E), c.2508dupC(p.W838Lfs*9), c.11695_11696delinsT(p.T3899Sfs*73), c.9915dupA (p.P3306Tfs*22).Among these variations, c.4332G>A, c.11695_11696delinsT and c.9915dupA were novel mutations. Therefore, the final diagnosis of these patients was WDSTS. Conclusions: Patients presented with short stature and mental retardation, typical facial dysmorphism and hypertrichosis should be considered WDSTS. Whole-exome sequencing plays an important role in disease diagnosis and genetic counseling.

Clinical and genetic analysis of three children patients with Kleefstra syndrome / 中华医学遗传学杂志

OBJECTIVE@#To explore the genetic basis of three children with unexplained developmental delay/intellectual disability (DD/ID).@*METHODS@#Peripheral blood samples were collected from the patients and subjected to chromosomal microarray analysis (CMA).@*RESULTS@#Patient 1 was found to harbor a 190 kb deletion at 9q34.3, which encompassed most of EHMT1 (OMIM 607001), the key gene for Kleefstra syndrome (OMIM 610253). Patients 2 and 3 were siblings. CMA showed that they have shared four chromosomal copy number variations (CNVs) including a deletion at 9q34.3 which spanned 154 kb and 149 kb, respectively, and encompassed the EHMT1 and CACNA1B (OMIM 601012) genes. The remaining 3 CNVs were predicted to be with no clinical significance.@*CONCLUSION@#Microdeletions at 9q33.4 probably underlay the pathogenesis of DD/ID in the three children, for which EHMT1 may be the key gene.

Simultaneous Cranioplasty and External Ventricular Drain Implantation in Patients with Hydrocephalus: Case Series and Literature Review

Introduction The increase in intracranial pressure (ICP) is a neurological complication resulting from numerous pathologies that affect the brain and its compartments. Therefore, decompressive craniectomy (DC) is an alternative adopted to reduce ICP in emergencies, especially in cases refractory to clinical therapies, in favor of patient survival. However, DC is associated with several complications, including hydrocephalus (HC). The present study presents the results of an unusual intervention to this complication: the implantation of an external ventricular drain (EVD) in the intraoperative period of cranioplasty (CP). Methods Patients of both genders who presented with HC and externalization of the brain through the cranial vault after decompressive hemicraniectomy and underwent EVD implantation, to allow the CP procedure, in the same surgical procedure, were included. Results Five patients underwent DC due to a refractory increase in ICP, due to automobile accidents, firearm projectiles, falls from stairs, and ischemic strokes. All evolved with HC. There was no uniform time interval between DC and CP. The cerebrospinal fluid (CSF) was drained according to the need for correction of cerebral herniation in each patient, before undergoing cranioplasty. All patients progressed well, without neurological deficits in the immediate postoperative period. Conclusion There are still several uncertainties about the management of HC resulting from DC. In this context, other CP strategies simultaneous to the drainage of CSF, not necessarily related to ventriculoperitoneal shunt (VPS), should be considered and evaluated more deeply, in view of the verification of efficacy in procedures of this scope, such as the EVD addressed in this study.

Síndrome de Noonan asociado a mutación del gen SOS1, reporte de caso / Noonan syndrome associated with a mutation of the SOS1 gene, case report

Introducción: El síndrome de Noonan es un trastorno genético de herencia autosómica dominante con una expresión fenotípica variable. Se encuentra dentro de las enfermedades conocidas como rasopatías, producidas por las mutaciones en los genes RAS. Los pacientes se caracterizan por dismorfismo facial, talla baja, enfermedad cardíaca congénita, alteraciones músculos esqueléticas y en algunos casos discapacidad intelectual. Caso clínico: En el presente reporte se describe el caso de un paciente masculino de un mes de edad que acude a consulta externa, presentando dismorfismo facial y estenosis pulmonar, por lo que se realiza un seguimiento multidisciplinario por sospecha de Síndrome de Noonan. A partir del cuarto mes desarrolló linfedema en la zona del deltoides. Evolución: A los 7 meses de vida se realiza secuenciación de exoma, encontrando una variante patogénica en el gen SOS1, confirmando el diagnóstico de dicho síndrome. Conclusión: Este caso documenta la presencia de síndrome de Noonan con mutación del gen SOS1 con dismorfología facial típica, estenosis de la válvula pulmonar, criptorquidia y displasia linfática con linfedema del deltoides, hallazgo no descrito en casos previos.

Introduction: Noonan syndrome is a dominant autosomal inherited ge-netic disorder with variable phenotypic expression. It is found within diseases known as rasopathies and is pro-duced by mutations in RAS genes. Patients are character-ized by facial dysmorphism, short stature, congenital heart disease, musculoskeletal disorders, and, in some cases, intellectual disability. Clinical case: This report describes the case of a one-month-old male patient who comes to the outpatient clinic, presenting with facial dysmorphism and pulmonary steno-sis, for which a multidisciplinary follow-up is carried out due to suspicion of Noonan syndrome. From the fourth month, the patient developed lymphedema in the deltoid area. Evolution: At 7 months of age, exome sequencing was per-formed, finding a pathogenic vari-ant in the SOS1 gene and confirming the diagnosis of this syndrome. Conclusion: This case documents the presence of Noonan syndrome with a mutation of the SOS1 gene with typical facial dysmorphology, pulmonary valve stenosis, cryptor-chidism and lymphatic dysplasia with deltoid.

Síndrome de Gardner: informe de un caso y revisión de la literatura / Gardner syndrome: case report and literature review

El síndrome de Gardner es una enfermedad genética de herencia autosómica dominante, presenta múltiples manifestaciones craneofaciales caracterizadas por hipercrecimientos óseos conocidos como osteomas, riesgo de desarrollo de pólipos gastrointestinales con alto potencial de malignidad y de tumores o quistes en piel, así como alteraciones dentales, entre las que destacan la presencia de dientes supernumerarios, retenciones dentarias, permanencia de dientes deciduos y odontomas, estas últimas de gran importancia para el odontólogo. Se trata de una enfermedad que afecta a mujeres y hombres de forma indistinta, no obstante, su prevalencia es mayor en el sexo femenino. El objetivo del presente artículo es explicar las manifestaciones clínicas y radiográficas dentales y craneofaciales del síndrome de Gardner mediante la presentación de un caso clínico y revisión de la literatura (AU)

Gardner syndrome is a genetic disease of autosomal dominant inheritance, it presents multiple craniofacial manifestations characterized by bone overgrowths known as osteomas, risk of development of gastrointestinal polyps with high potencial of malignancy, and skin tumors or cysts, as well as dental alterations, among the characteristics of the presence of supernumerary teeth, dental retention, permanence of deciduous teeth and odontomas, the latter of great importance for the dentist. It is a disease that affects women and men indistinctly, however, its prevalence is higher in the female sex. The aim of this article is to explain the dental and craniofacial clinical and radiographic manifestations of Gardner syndrome by presenting a clinical case and a review of the literature (AU)

Conhecimento dos cirurgiões dentistas da Atenção Primária à Saúde sobre anomalias craniofaciais: fase de análise do modelo ADDIE / Knowledge of dental surgeons of primary health care about craniofacial anomalies: phase of analysis of the ADDIE model

Objetivou-se fazer uma análise do conhecimento e dificuldades dos cirurgiões dentistas (CD) da Atenção Primária à Saúde (APS) no atendimento a pacientes com anomalias craniofaciais como etapa preliminar no planejamento de estratégia educacional. Esse nível da atenção é fundamental para manutenção da saúde bucal. Trata-se de um estudo de abordagem qualitativa, com participação de sete CD de um Distrito Sanitário (DS) no município do Recife, selecionados por conveniência. A coleta de dados ocorreu por meio de entrevistas semiestruturadas, utilizando-se um roteiro com perguntas disparadoras, que foram gravadas em um aparelho de áudio, fielmente transcritas e submetidas à técnica de Análise Temática de conteúdo. Foram apontadas a falta de conhecimento sobre anomalias craniofaciais pelo CD e a falta de segurança em possíveis atendimentos na APS. Acredita-se que a falta de conhecimento seja a principal lacuna que interfere no desempenho do CD da APS no cuidado desses pacientes.

The objective was to analyze the knowledge and difficulties of dentists (CD) of Primary Health Care (APS) in the care of patients with craniofacial anomalies as a preliminary step in planning an educational strategy. This is a study with a qualitative approach, with the participation of 07 CD from a Sanitary District (DS) in the municipality of Recife, selected for convenience. Data collection took place through semi-structured interviews, using a script with triggering questions, guiding questions, which were recorded on an audio device, faithfully transcribed, and submitted to the Thematic Content Analysis technique. It was pointed out the lack of knowledge about craniofacial anomalies by the CD and the lack of security in possible visits to APS. It is believed that the lack of knowledge is the main gap that interferes in the performance of the CD in APS in the care of these patients.

Síndrome de Rubinstein ­ Taybi: características fenotípicas, reporte de caso / Rubinstein - Taybi syndrome: phenotypic characteristics, case report / Síndrome de Rubinstein - Taybi: características fenotípicas, relato de caso

Introducción: El síndrome de Rubinstein ­ Taybi es una patología de origen genético que afecta a 1 de cada 100.000 a 125.000 nacidos vivos, se caracteriza por presentar: retraso en el crecimiento, retraso en el desarrollo psicomotriz y anomalías morfológicas que incluyen: rasgos faciales peculiares (cejas arqueadas y gruesas, fisuras palpebrales inclinadas hacia abajo, puente nasal convexo con punta de la nariz por debajo de las alas), pulgares y hallux anchos. Su origen epigenético en el 60% de los casos se debe a una alteración en el gen CREBBP (codificador de la proteína CPB), en el 10% a un cambio en el gen EP300 (codificador de la proteína p300) y en el 30% no se han logrado identificar su causa. Caso clínico: Niño de 8 años de edad con retardo en el desarrollo psicomotriz, con dificultades para la adaptación escolar. Al examen físico con rasgos faciales: cejas superpobladas y arqueadas, hirsutismo en frente y región de labio superior, fisuras palpebrales inclinadas hacia abajo, hipertelorismo con estrabismo convergente, puente nasal ancho, nariz achatada, la punta se extiende levemente por debajo de las alas nasales. Con hirsutismo en región cervical e interescapular. En las manos se identifica dedos pulgares anchos, en el resto de dedos se evidencian falanges distales ensanchadas, de igual forma en la región de los pies se identifican hallux anchos y falanges distales ensanchadas. Evolución: El paciente sigue en observación por consulta externa, fue enviado a programas de terapia de lenguaje, lectura y psicomotriz. No ha desarrollado infecciones pulmonares hasta el cierre del seguimiento, 6 meses posteriores al diagnóstico. Conclusión: En presente caso reporta las alteraciones fenotípicas características faciales y de extremidades de un niño con síndrome de Rubinstein-Taybi, las cuales ayudaron al diagnóstico clínico.

Introduction: Rubinstein-Taybi syndrome is a pathology of genetic origin that affects 1 out of every 100,000 to 125,000 live births, it is characterized by: growth retardation, delay in psy-chomotor development and morphological abnormalities that include: peculiar facial features (thick arched eyebrows, downward sloping palpebral fissures, convex nasal bridge with tip of nose below wings), broad thumbs and hallux. Its epigenetic origin in 60% of cases is due to an alteration in the CREBBP gene (coding for CPB protein), in 10% to a change in the EP300 gene (coding for p300 protein) and in the 30% have not been able to identify its cause. Clinical case: 8-year-old boy with a delay in psychomotor development, with difficulties in adapting to school. On physical examination with facial features: overpopulated and arched eyebrows, hirsutism in the forehead and upper lip region, downward sloping palpebral fissures, hypertelorism with convergent strabismus, wide nasal bridge, flattened nose, the tip extends slightly below the nasal wings. With hirsutism in the cervical and interscapular region. In the hands, broad thumbs are identified, in the rest of the fingers there are widened distal phalanges, in the same way in the region of the feet, wide hallux and widened distal phalanges are identified. Evolution: The patient continues to be observed by outpatient consultation, he was sent to speech, reading and psychomotor therapy programs. He has not developed pulmonary infections until the close of follow-up, 6 months after diagnosis. Conclusion: In this case, it reports the phenotypic alterations of the facial and limb characteristics of a child with Rubinstein-Taybi syndrome, which helped the clinical diagnosis.

Introdução: A síndrome de Rubinstein-Taybi é uma patologia de origem genética que afeta 1 em cada 100.000 a 125.000 nascidos vivos, é caracterizada por: retardo de crescimento, atraso no desenvolvimento psicomotor e anormalidades morfológicas que incluem: características faciais peculiares (sobrancelhas arqueadas e grossas, descendente fissuras palpebrais, ponte nasal convexa com a ponta do nariz abaixo das asas), polegares largos e hálux. Sua origem epigenética em 60% dos casos deve-se a uma alteração no gene CREBBP (que codifica a proteína CPB), em 10% a uma alteração no gene EP300 (que codifica a proteína p300) e em 30% sua causa não foi identificada . Caso clínico: Menino de 8 anos com atraso no desenvolvimento psicomotor, com dificuldade de adaptação à escola. No exame físico com características faciais: sobrancelhas superpovoadas e arqueadas, hirsutismo na testa e região do lábio superior, fissuras palpebrais inclinadas para baixo, hipertelorismo com estrabismo convergente, ponte nasal larga, nariz achatado, a ponta se estende ligeiramente abaixo das asas nasais. Com hirsutismo na região cervical e interescapular. Nas mãos identificam-se os polegares largos, nos restantes dedos são identificadas falanges distais alargadas, da mesma forma que na região dos pés, hálux largo e falanges distais alargadas. Evolução: O paciente ainda está em acompanhamento ambulatorial, foi encaminhado para programas de fonoaudiologia. Ele não desenvolveu infecções pulmonares até o fechamento do acompanhamento, 6 meses após o diagnóstico. Conclusão: Nesse caso, relata as alterações fenotípicas das características faciais e de membros de uma criança com síndrome de Rubinstein-Taybi, o que auxiliou no diagnóstico clínico.

A importância da Odontologia na assistência a indivíduos com defeitos congênitos / The importance of Dentistry in assisting individuals with birth defects

Introdução: Defeitos congênitos são alterações estruturais ou funcionais que acontecem durante a vida intrauterina. O cirurgião-dentista deve reconhecer os defeitos craniofaciais para complementar a caracterização fenotípica e manejá-los junto a uma equipe multiprofissional. A presente revisão tem como objetivo auxiliar o cirurgião-dentista para o diagnóstico desses achados e apresentar quadros sindrômicos tipicamente associados a malformações craniofaciais. Revisão de Literatura: Manifestações craniofaciais de defeitos congênitos são condições que devem ser reconhecidas pelos cirurgiões--dentistas, pois frequentemente estão presentes em sua prática diária, podendo ser este profissional o primeiro a identificar tais achados. Os principais quadros sindrômicos tipicamente associados a micrognatia, fendas orais e displasias esqueléticas com manifestação craniofacial são apresentados, assinalando suas características clínicas e genéticas. Discussão: O cirurgião-dentista deve realizar uma anamnese detalhada incluindo a história familiar, bem como reconhecer as dismorfias tanto clínica quanto radiograficamente, observando o paciente de forma sistêmica. Conclusão: Os profissionais da odontologia devem receber treinamento teórico-prático para o diagnóstico, tratamento e vigilância de indivíduos com defeitos congênitos, seja na avaliação individual ou como parte de uma equipe multiprofissional.

Introduction: Birth defects are structural or functional changes that occur during intrauterine life. The dentist must recognize the craniofacial defects, complement the phenotypic characterization and manage them within a multidisciplinary team. The present review aims to assist the dentist to diagnose these findings and present syndromic conditions typically associated with cranio-facial malformations. Literature Review: Craniofacial manifestations of birth defects are conditions that must be recognized by dentists, as they are frequently present in their daily practices, and this professional may be the first to identify such findings. The main syndromic clinical pictures typically associated with micrognathia, oral clefts and skeletal dysplasias with craniofacial man-ifestation are presented, pointing out their clinical and genetic features. Discussion: The dentist must perform a detailed anamnesis including family history, as well as should recognize both clinical and radiographically the dysmorphisms, observing the patient systemically. Conclusion: Dentistry professionals should receive the-oretical-practical training for the diagnosis, treatment and surveillance of individuals with congenital defects, either in individual assessment or as part of a multipro-fessional team.

Remoção de pré-maxila em paciente com fissura labiopalatina: relato de caso / Removal of the premaxilla in patient with cleft lip and palate: case report

Diversas anomalias craniofaciais acometem os seres humanos, dentre estas podem ser citadas as fissuras labiopalatinas. Ocorrem devido à mal formações congênitas e comprometem o desenvolvimento orofacial e maxilo-mandibular, gerando complicações estéticas e funcionais. O momento para abordagem cirúrgica em pacientes com deformidade deste tipo é crucial para atingir o melhor resultado. Entretanto, muitos deles não procuram atendimento ou não tem acesso aos centros especializados. A pré-maxila em portadores de fissura labiopalatina transforame bilateral, não submetidos a tratamento cirúrgico na infância, é comumente protruída, impedindo o desenvolvimento e função adequada da musculatura perioral/ Ainda, pode causar dificuldades alimentares,de fonação e, principalmente, estético. O objetivo do presente trabalho é relatar o caso de uma paciente acompanhada no serviço de cirurgia bucomaxilofacial OSID/UFBA, portadora de fissura labiopalatina, submetida à remoção de pré-maxila em idade adulta. O fechamento da fenda palatina não foi possível devido a idade da paciente e o grau de desenvolvimento do palato, tendo indicado tratamento com uso de prótese obturadora. Considera-se que quanto mais precoce e associado a uma boa técnica cirúrgica forem realizadas as intervenções primárias, menores serão as sequelas. Consequentemente, os resultados estéticos e funcionais serão mais prováveis, sendo desnecessária a remoção cirúrgica da pre-maxila(AU)

Several craniofacial anomalies affect humans and, among these, it can be cited the cleft lip and palate. These occur due to congenital malformations and compromise the orofacial and maxillo-mandibular development, causing aesthetic and functional complications. The moment of the surgical approach in patients with this type of deformities is crucial to achieve the best outcome, however, many of them do not seek care or have no access to specialized centers. The premaxilla in carries of bilateral cleft lip and palate when they are not submitted to a surgical treatment in childhood, is commonly protruding, impeding the development and function of the perioral musculature, besides difficult feeding, phonation and mainly aesthetic. The aim of this article is to report the case of a patient accompained with the Bucomaxillofacial Surgery Service from OSID / UFBA, with cleft lip and palate, submitted to pre-maxilla removal, in adulthood. The cleft palate closure was not possible due to the age of the patient and degree of development of the palate, indicating treatment with obturator prosthesis. It is considered that, the sooner and associated with a good surgical technique, primary interventions are performed, the fewer the sequelae and consequently the aesthetic and functional results, where, in most cases, surgical removal of the premaxilla will be unnecessary(AU)

3D CT Soft Tissue Craniofacial Analysis and Lip Morphology

ABSTRACT Objctive: To assess the soft tissue characteristics of Bangladeshi adults to formulate soft tissue 3D CT standards using Holdaway's (HA) and lip morphology (LM) analyses. Another aim of this study was to assess the gender dimorphism of Bangladeshi population. Material and Methods: One hundred and seventeen (Eighty-five men and Thirty-two women) Bangladeshi adults have obtained their computed tomography (CT) scan at the Radiology Department for normal diagnosis. Craniofacial deformities were undetected in all cases. The CT images were prepared by a 3D imaging programming software (Mimics 11.02 Materialise). Parameters from the identified landmark points were measured in 3D through this software. Results: Upper lip thickness (ULT) (vermillion UL-A point) measurement was significant in HA and in LM analyses, upper lip protrusion (ULP) (Ls to Sn-SPog) measurement has demonstrated significant difference among both genders, where p-value was less than 0.05. Mean measurements of Bangladeshi adults were relatively comparable except the face convexity (FC) when compared with the HA cephalometric soft tissue values. Conclusion: By using HA and LM analyses, 3D CT soft tissue standards were established for Bangladeshi adults. Measurements for all parameters have remained equivalent with the HA standard data apart from the FC measurement. This consequently may demonstrate that the Bangladeshi population retains a convex shape with a slight protrusive lip or retruded chin.

Genetic analysis of three patients with Kleefstra syndrome / 中华医学遗传学杂志

OBJECTIVE@#To analyze the clinical and genetic features of three patient diagnosed with Kleefstra syndrome.@*METHODS@#Whole exome sequencing (WES) was carried out for the probands and their parents. Suspected variants were validated by Sanger sequencing. Copy number variations (CNV) were detected by CNV-seq and validated by real-time PCR.@*RESULTS@#Proband 1 was found to carry a de novo heterogeneous variant (c.823+1G>T) of the EHMT1 gene, which may affect its expression. Based on the guidelines of the American College of Medical Genetics and Genomics, the variant was predicted to be pathogenic (PVS1+PS2+PM2). Proband 2 was found to carry a de novo missense variant c.439C>G (p.L147V) of the EHMT1 gene, which was predicted to be likely pathogenic (PS2+PM1+PM2+PP3). Proband 3 was found to carry a heterozygous 520 kb deletion at 9q34.3 by CNV-seq. The deletion has encompassed the whole of the EHMT1 gene. Real-time PCR has detected no CNV of this region in her parents.@*CONCLUSION@#Variants of the EHMT1 gene probably underlay the disease in these patients. Genetic testing has provided a basis for their clinical diagnosis.

Características craneofaciales de pacientes obesos en Chile. Estudio Preliminar / Craniofacial characteristics of obese patients in Chile. Preliminary study

Resumen Introducción: La obesidad es un problema a nivel global que enfrenta el siglo XXI y Chile no se escapa de esta realidad. Así como existen características mórbidas de pacientes con obesidad, también existen características craneofaciales similares en estos pacientes. El estado nutricional es un factor que influencia el desarrollo de una persona en general, lo que tiene implicancias en el tratamiento ortodóncico, ortopédico y quirúrgico de las alteraciones maxilo - mandibulares de los pacientes. Objetivo: Investigar si la morfología craneofacial difiere entre los adolescentes obesos y los de peso normal. Métodos: Estudio retrospectivo, se basó en la comparación de medidas craneofaciales obtenidas del análisis cefalométrico, utilizando teleradiografías laterales, de dos grupos: grupo estudio (IMC mayor a 30, obeso) y grupo control (IMC normal). Resultados: Se observaron dimensiones maxilares y mandibulares mayores en el grupo estudio comparado con los pacientes del grupo control. Las medidas para la dimensión maxilar tuvieron diferencia significativamente estadística. Conclusiones: El aumento de peso es un factor importante que puede afectar los patrones de crecimiento craneofacial y debe ser tomado en consideración durante la planificación del tratamiento ortodoncico en pacientes adolescentes.

Abstract Introduction: Obesity is a global problem in the the 21st century and Chile does not escape this reality. Just as there are morbid characteristics of patients with obesity, there also share similar craniofacial characteristics. Nutritional status is a factor that influences the a person´s general development , which has implications in the orthodontic, orthopedic and surgical treatments of maxillo-mandibular alterations. Objective: Investigate whether craniofacial morphology differs between obese and average-weight adolescents. Methods: A retrospective study based on the comparison of craniofacial measures obtained from the cephalometric analysis, using lateral cephalograms, from two groups: study group (BMI over 30, obese) and control group (normal BMI). Greater maxillary and mandibular dimensions were observed in the study group compared to the patients in the control group. The measurements for de maxillary dimension had a statistically significant difference. Conclusions: Weight gain is an important factor that can affect craniofacial growth patterns and should be taken into consideration during the planning of orthodontic treatment in adolescent patients.

Manifestações bucais em uma paciente com disostose cleidocraniana: relato de caso / Oral manifestations in a patient with cleidocranial dysostosis: case report

A Disostose Cleidocraniana (DC), também conhecida como Displasia Cleidocraniana (DCC), é uma doença autossômica de caráter dominante, relatada pela primeira vez no século XVIII, sendo descrita em 1897 por Pierre Marie e Paul Sainton, relacionando-a a fatores genéticos. Suas manifestações clínicas apresentam-se através do desenvolvimento tardio de estruturas e defeitos ósseos, anormalidades estomatognáticas e craniofaciais. O diagnóstico baseia-se nas características clínicas e imaginológicas e o tratamento odontológico geralmente é cirúrgico, envolvendo a exodontia de unidades supranumerárias e decíduas, em associação com a abordagem ortodôntica. Este trabalho possui como objetivo, relatar o caso clínico sobre as principais manifestações bucais evidenciadas em uma paciente jovem diagnosticado com Displasia Cleidocraniana, bem como demonstrar a importância do diagnóstico preciso para auxílio no sucesso do tratamento e qualidade de vida do paciente(AU)

Cleidocranial Dysostosis (CD), also known as Cleidocranial Dysplasia (DCC), is an autosomal dominant disease, first reported in the 18th century, being described in 1897 by Pierre Marie and Paul Sainton, relating it to genetic factors. Its clinical manifestations appear through the late development of bone structures and defects, stomatognathic and craniofacial abnormalities. The diagnosis is based on clinical and imaging characteristics and dental treatment is usually surgical, involving the extraction of supernumerary and deciduous units, in association with the orthodontic approach. This work aims to report the clinical case about the main oral manifestations evidenced in a young patient diagnosed with Cleidocranial Dysplasia, as well as to demonstrate the importance of accurate diagnosis to aid in the success of the treatment and quality of life of the patient(AU)

Morphological changes in the midface of Beagle dogs treated by trans-sutural distraction / Cambios morfológicos en la cara media de perros Beagle tratados por distracción trans-sutural

Trans-sutural distraction is a biological process that induces the formation of new bone and changes the position of bone by pulling on growing suture under the action of external forces. Currently, therapy to midfacial hypoplasia treated by trans-sutural distraction has been applied. In this study, Beagle dogs were selected as experimental animals, and a traction device designed by ourselves was applied to Beagle dogs to simulate the treatment process of trans-sutural distraction in human face, so as to provide a basis for the subsequent research on the related mechanism of trans-sutural distraction. The objective is that the animal model can provide the basis for the follow-up study of transsutural distraction. 45 month beagle dogs were randomly divided into two groups 3 in experiment group and 3 in control group. Implant nails were implanted as the bone marker in the bilateral zygomatic temporal suture, zygomandibular maxillary suture and palatine transverse suture in experimental group. The traction of the maxilla was carried out by the external cranial traction frame with canine fossa as bearing point, 800g force each side, elastic traction for 15 days. The control group only implanted the implant nail as the bone marker on both sides of the bone suture. The distance between two implant nails was measured by vernier calipers and X-ray examination, compared with preoperative and postoperative changes. X-ray and cephalometric measurements were used to measure change in the cranial basal angle. HE staining was used to observe the width of the bone seams, the morphology and structure of the cells and the tissue of the new bone under the phase contrast microscope. Then descriptive statistical analysis and t-test between two independent samples are carried out for the measurement data. The experimental group had a good retention of the beagle traction frame. In the experimental group, the maxillaries of dogs were protrudent in the process of traction gradually and the occlusal relationship changed to type II malocclusion. When the traction is 15 days, the coverage distance is about 8~9 mm. Before and after the traction, the distance between landmark points indicated that the spacing between the transverse palatine suture was the largest (experimental group: 5.52±0.19 mm control group 1.31±0.06 mm P<0.05), and zygomaticotemporal suture was the second (experimental group: 3.12±0.15 mm, control group 0.73±0.04 mm, P<0.05), and zygomaticomaxillary suture was less (experimental group: 2.60±0.34 mm, control group 0.53±0.05 mm, P<0.05). The cranial basal angle was no change before and after operation (controlgroup: 32.3±1.3°, experimental group: 33.2±1.1° P>0.05. Histology showed that the collagenous fibers in the suture of the control group were denser and the osteoblasts were visible on the edge of the suture, showing osteogenic activity. The experimental group significantly widened suture (experimental group: 1209.388±42.714 µm, control group 248.276±22.864 µm, P<0.05), the number of fibroblasts increased significantly with loose collagen fiber. The direction of cell and fiber arrangement were parallel to the traction force. There were many small blood vessels and marrow cavities, and the bone trabecula around the bone suture was thin (experimental group: 23.684±3.774 mm, control group: 86.810±9.219 mm, P < 0.05), showing active osteogenic activity. The growing beagle dog can be used to establish a suture traction animal model for experimental study. In the experiment, Kirschner wire was used to penetrate the bottom plane of the piriform hole of the maxilla (about the position of the canine fossa at the back) and the traction direction was basically the same as the growth direction, and the maxilla was basically parallel and moved forward.

La distracción trans-sutural es un proceso biológico que induce la formación de hueso nuevo y cambia la posición del éste al tirar de la sutura en crecimiento bajo la acción de fuerzas externas. Actualmente, se ha aplicado la terapia para la hipoplasia de la cara media tratada por distracción trans-sutural. En este estudio, fueron seleccionados perros Beagle como animales experimentales, y un dispositivo de tracción fue instalado a los perros para simular el proceso de tratamiento de la distracción trans-sutural en el rostro humano. El objetivo fue proporcionar una base para la investigación posterior sobre mecanismos relacionados con la distracción trans-sutural. El modelo animal puede proporcionar la base para este tipo de estudio de seguimiento de la distracción trans-sutural. Perros Beagle de 45 meses de edad se dividieron aleatoriamente en dos grupos: 3 en el grupo experimental y 3 en el grupo control. Los clavos de implante se usaron como marcadores óseos en la sutura temporal cigomática bilateral, la sutura maxilar cigomandibular y en la sutura transversal palatina en el grupo experimental. La tracción del maxilar se realizó mediante el marco de tracción craneal externo con fosa canina como punto de apoyo, 800 g de fuerza a cada lado, tracción elástica durante 15 días. En el grupo control solo se implantó el clavo del implante como marcador óseo en ambos lados de la sutura. La distancia entre dos clavos de implante se midió mediante calibradores de vernier y examen de rayos X, en comparación con los cambios preoperatorios y postoperatorios. Se utilizaron mediciones cefalométricas y de rayos X para medir el cambio en el ángulo basal craneal. La tinción con HE se usó para observar el ancho de las suturas óseas, la morfología y la estructura de las células y el tejido del hueso nuevo bajo el microscopio de contraste de fase. Luego se realizó un análisis estadístico descriptivo y una prueba t entre dos muestras independientes para los datos de medición. El grupo experimental tuvo una buena retención del cuadro de tracción del Beagle. En el grupo experimental, los maxilares de los perros sobresalieron gradualmente en el proceso de tracción y la relación oclusal cambió a maloclusión tipo II. Cuando la tracción era de 15 días, la distancia de cobertura fue de aproximadamente 8 ~ 9 mm. Antes y después de la tracción, la distancia entre los puntos de referencia indicaba que el espacio entre la sutura palatina transversal era más grande (grupo experimental: 5,52 ± 0,19 mm, grupo de control 1,31 ± 0,06 mm, P <0,05), y la sutura cigomáticotemporal fue la segunda. (Grupo experimental: 3,12 ± 0,15 mm, grupo control 0,73 ± 0,04 mm, P <0,05), y la sutura cigomaticomaxilar fue menor (grupo experimental, 2,60 ± 0,34 mm, grupo control 0,53 ± 0,05 mm, P <0,05). El ángulo basal craneal no cambió antes ni después de la operación (grupo control 32,3 ± 1,3, grupo experimental, 33,2 ± 1,1 ° , P> 0,05). La histología mostró que las fibras colágenas en la sutura del grupo control eran más densas y los osteoblastos se observaron en el margen de la sutura, mostrando actividad osteogénica. En el grupo experimental se amplió significativamente la sutura (1209,388 ± 42,714 µm, grupo control 248,276 ± 22,864 µm, P <0,05), el número de fibroblastos aumentó significativamente con fibras colágenas dispersas. La dirección de la disposición de la celda y las fibras era paralela a la fuerza de tracción. Se observó gran cantidad de vasos sanguíneos pequeños, cavidades medulares, y trabéculas óseas alrededor de la sutura ósea (grupo experimental: 23,684 ± 3,774 mm, grupo control: 86,810 ± 9,219 mm, P <0,05), que mostró actividad osteogénica activa. El perro Beagle en crecimiento se puede utilizar para estudios experimentales y así establecer un modelo animal de tracción de sutura. En el proceso, se usó alambre de Kirschner para penetrar en el plano inferior del foramen piriforme del maxilar (aproximadamente en la posición de la fosa canina en la parte posterior) y la dirección de tracción fue básicamente la misma que en el crecimiento.

3-D airway analysis related to facial morphology / Análisis 3-D de la vía aerea relacionado con la morfología facial

The aim of this investigation was to define the volume and area of the airway in subjects with Class II and Class III skeletal deformity. A cross-sectional study was designed including subjects with facial deformity defined by Steiner's analysis in subjects with indication of orthognathic surgery who presented diagnosis by cone beam computerised tomography. We determined the measurements of maximum area, minimum area and volume of the airway. The data were compared using Spearman's test, with statistical significance defined as p<0.05. 115 subjects were included: 61.7 % Class II and 38.3 % Class III, mean age 27.8 years (± 11.6). A significant difference was observed in the area and volume measurements in the groups studied, with significantly smaller measurements found in Class II (p=0.034). The minimum area was 10.4 mm2 smaller in Class II patients than in Class III, while the general volume of the airway was 4.1 mm3 smaller in Class II than in Class III. We may conclude that Class II subjects present a smaller airway volume than Class III subjects.

El objetivo de esta investigación de definir el volumen y área de vía aérea en sujetos con deformidad esqueletal clase II y III. Se diseñó un estudio de corte transversal incluyendo sujetos con deformidad facial definida según análisis de Stainer en sujetos con indicación de cirugía ortognática que presentaran una tomografía computadorizada de haz cónico como elemento diagnóstico; en este examen se determinaron medidas de área mayor, menor de vía aérea y volumen presente; los datos fueron comparados utilizando pruebas estadísticas con el test de spearman considerando el valor de p<0,05 para definir significancia estadística. 115 sujetos fueron incluidos, siendo 61,7 % de tipo clase II y 38,3 % de sujetos clase III, con una edad promedio de 27,8 años (± 11,6). Se observó una diferencia significativa en mediciones de area y volumen en los grupos estudiados, siendo el grupo de clase II significativamente menor (p=0,034). El área de menor tamaño fue 10,4 mm2 en pacientes clase II que en pacientes clase III, mientras que el volumen general de la vía área fue 4,1 menor en los clase II que en los clase III. Es posible concluir que los sujetos de clase II presentan menor volumen de vía área que los sujetos clase III.

A novel approach for pre-surgical evaluation of facial morphometry in children using magnetic resonance imaging scans of the brain: a feasibility analysis / Un enfoque novedoso para la evaluación prequirúrgica de la morfometría facial en niños mediante imágenes por resonancia magnética de cerebro: un análisis de viabilidad

Pre-surgical evaluation of facial morphometry is frequently warranted for children with facial dysmorphism. Though many methods utilized previously for such purposes, data is scarce on using magnetic resonance (MRI) brain images for such purposes. The purpose of this study was to appraise the feasibility of utilizing MRI brain scans done in epilepsy imaging protocol to assess facial morphometry. Measurements of the face; orbit, mouth, and nose of children aged 1 to 7 years were obtained using T1 sagittal, T2 axial and three dimensional (3D) MRI images of the brain (n=20). Ability to obtain facial measurements, inter and intra-observer variability calculated. The mean age of the studied children was 4±2 years, of which 40% (n=8) were boys, and 60% (n=12) were girls. Obtaining facial measurements were reliable with high intra-observer (α=0.757 to 0.999) and inter-observer agreements (α=0.823 to 0.997). The landmarks of the cranium, upper face, and upper nose could be identified (100%) in both two dimensional (2D) and 3D images when such landmarks were contained in the imaging field of view (FOV). Landmarks of lower nose, (subalar width = 0%) or mouth (0%) were not contained in the FOV of 2D images, but contained in 3D images (100%). Both 2D and 3D images did not allow assessment of lower face or the mandible as such landmarks were not contained in the FOV.We conclude thatBrain MRIs performed to evaluate cerebral pathology can be executed to assess facial measurements, provided the FOV of the scan is adjusted to include all significant landmarks.

La evaluación prequirúrgica de la morfometría facial con frecuencia se justifica para niños con dismorfismo facial. Aunque muchos métodos se utilizaron anteriormente para tales fines, los datos son escasos sobre el uso de imágenes cerebrales por resonancia magnética (MRI) para tales fines. El propósito de este estudio fue evaluar la viabilidad de utilizar resonancias magnéticas cerebrales realizadas en el protocolo de imágenes de epilepsia para evaluar la morfometría facial.Medidas de la cara, la órbita, la boca y la nariz de niños de 1 a 7 años se obtuvieron mediante imágenes de resonancia magnética cerebral T1 sagital, axial T2 y tridimensional (3D) del cerebro (n = 20). Se obtuvieron las medidas faciales, y fue calculada la variabilidad inter e intraobservador.La edad de los niños estudiados fue de 4 ± 2 años, de los cuales el 40% (n = 8) hombre y el 60% (n = 12) mujer. La obtención de medidas faciales fue confiable con altos acuerdos intraobservador (α = 0,757 a 0,999) e interobservador (α = 0,823 a 0,997). Los puntos de referencia del cráneo, la cara superior y la nariz superior se pudieron identificar (100%) tanto en imágenes bidimensionales (2D) como en 3D cuando dichos puntos de referencia estaban contenidos en el campo de visión de la imagen (FOV). Los puntos de referencia de la parte inferior de la nariz (ancho subalar = 0%) o la boca (0%) no estaban contenidos en el campo de visión de las imágenes 2D, sino que estaban contenidos en las imágenes 3D (100%). Tanto las imágenes 2D como las 3D no permitieron la evaluación de la parte inferior de la cara o la mandíbula, ya que tales puntos de referencia no estaban contenidos en el campo de visión.Concluimos que las resonancias magnéticas cerebrales realizadas para evaluar la patología cerebral se pueden usar para evaluar las medidas faciales, siempre que el campo de visión de la exploración se ajuste para incluir todos los puntos de referencia importantes.