Study on the management of granulation during surgery for congenital preauricular fistula infection stage / 临床耳鼻咽喉头颈外科杂志

Objective:To investigate the management of granulation tissue during surgery for infected congenital preauricular fistula and to assess the surgical outcomes. Methods:To summarize the surgical methods and the treatment of granulation methods in 140 cases of congenital preauricular fistula during the period of infection treated in our department from January 2018 to September 2022. The study divided patients into an observation group （79 patients） undergoing fistulectomy without granulation treatment, and a control group （61 patients） where fistulectomy and granulation resection were performed concurrently.. After six months of follow-up, the wound healing, recurrence rates, and the aesthetic assessment of granulation healing were evaluated using the Stony Brook Scar Evaluation Scale（SBSES）. Results:The two surgical approaches were applied to a total of 140 patients with infected congenital preauricular fistula. There was no statistical difference in wound healing and recurrence rates between the observation group and the control group. However, the observation group exhibited smaller scars. Conclusion:In cases of infected congenital preauricular fistula, surgical removal without excising granulation tissue is feasible, leading to effective healing and lesser scar formation.

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.

Analysis of genetic variants in a child with Intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism without seizures / 中华医学遗传学杂志

OBJECTIVE@#To explore the clinical phenotype and genetic characteristics of a child with Intellectual developmental disorder with behavioral abnormalities and craniofacial malformations without epilepsy (IDDBCS).@*METHODS@#A child who had visited the Lianyungang Maternal and Child Health Care Hospital in April 2021 was selected as the study subject. Clinical data of the child were collected. Genomic DNA was extracted from peripheral blood samples of the child and his parents and subjected to whole exome sequencing (WES). Candidate variants were verified by Sanger sequencing of his family members.@*RESULTS@#The child, a 3-year-and-4-month-old male, had presented with global developmental delay and cranial malformation. Genetic testing revealed that he has harbored a heterozygous c.1703delA (p.K568Sfs9) variant of the PHF21A gene, for which both of his parents were of the wild type. This low-frequency variant may alter the structure and function of the protein product. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), it was classified as a pathogenic variant (PVS1+PS2+PM2_Supporting).@*CONCLUSION@#The heterozygous c.1703delA (p.K568Sfs9) variant of the PHF21A gene probably underlay the IDDBCS in this patient.

A case of intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures caused by PHF21A gene variation and review of literature / 中华儿科杂志

Objective: To discuss the clinical and genetic features of intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures (IDDBCS). Methods: The clinical and genetic records of a patient who was diagnosed with IDDBCS caused by PHF21A gene variation at Children's Hospital Capital Institute of Pediatrics in 2021 were collected retrospectively. Using " PHF21A gene" as the keyword, relevant articles were searched at CNKI, Wanfang Data and PubMed from establishment of databases to February 2023. Clinical and genetic features of IDDBCS were summarized in the combination of this case. Results: An 8 months of age boy showed overgrowth (height, weight and head circumference were all higher than the 97th percentile of children of the same age and sex) and language and motor developmental delay after birth, and gradually showed autism-like symptoms like stereotyped behavior and poor eye contact. At 8 months of age, he began to show epileptic seizures, which were in the form of a series of spastic seizures with no reaction to adrenocorticotropic hormone but a good response to vigabatrin. Physical examination showed special craniofacial appearances including a prominent high forehead, sparse eyebrows, broad nasal bridge, and downturned mouth with a tent-shaped upper lip. The patient also manifested hypotonia. Whole exome sequencing showed a de novo heterogeneous variant, PHF21A (NM_001101802.1): c.54+1G>A, and IDDBCS was diagnosed. A total of 6 articles (all English articles) were collected, involving this case and other 14 patients of IDDBCS caused by PHF21A gene variation. Clinical manifestations were intellectual disability or developmental delay (15 patients), craniofacial anomalies (15 patients), behavioral abnormalities (12 patients), seizures (9 patients), and overgrowth (8 patients). The main pathogenic variations were frameshift variations (8 patients). Conclusions: IDDBCS should be considered when patients show nervous developmental abnormalities, craniofacial anomalies, seizures and overgrowth. PHF21A gene variation detection helps to make a definite diagnosis.

One-stage operation surgical efficacy observation of congenital preauricular fistula infection and static period of inflammation in children / 临床耳鼻咽喉头颈外科杂志

Objective:To compare the clinical effect of surgical treatment of congenital preauricular fistulas in children during the local infection period and static inflammatory period. Methods:Forty children with congenital preauricular fistula infection treated in our hospital from January 2020 to December 2022 were selected as the experimental group, and 39 children with congenital preauricular fistula inflammation at static period were selected as the control group. The fistula of the two groups of children aged between 1-14 years old was located in front of the foot of the ear wheel or the foot of the ear wheel, and all were unilateral fistulas. The postoperative follow-up was 6 months to 2 years, and the efficacy of the two groups was compared. Results:There was no significant difference in the healing rate of stage Ⅰ and stage Ⅱ between the two groups（P>0.05）. There was no significant difference in fistula recurrence rate and satisfaction with the preauricular scar between the two groups after treatment（P>0.05）. There was no significant difference in postoperative hospital stay between the experimental group and the control group（P>0.05）. Conclusion:The effect of surgical treatment of congenital preauricular fistula in the infected period is similar to that of surgical treatment in the static period of inflammation, and it can reduce the pain of dressing change under local anesthesia in children, avoid the second operation in children, and reduce the economic cost. This treatment method is worthy of clinical promotion. Appropriate incision and resection method were designed according to the fistula and infection sites.

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.

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.

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.

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 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)

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.

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)

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.

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.

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.