Solitary Median Maxillary Central Incisor in Hartsfield Syndrome: A Case Report.

Hartsfield syndrome is a rare and unique clinical combination of ectrodactyly and holoprosencephaly (HPE) with or without cleft lip and palate, as well as various additional characteristics. Although several genes responsible for HPE and ectrodactyly have been identified, the genetic origin of Hartsfield syndrome remains unknown, as there are few reports in the literature. The objective of this case report is to present dentofacial abnormalities in an 11-year-old boy with Hartsfield syndrome, who presented mental retardation, hearing loss, bilateral hand and foot ectrodactyly, HPE, and solitary median maxillary central incisor (SMMCI) besides 12 dental ageneses. How to cite this article: P Reis PM, Faber J, O Rosa JS, et al. Solitary Median Maxillary Central Incisor in Hartsfield Syndrome: A Case Report. Int J Clin Pediatr Dent 2023;16(1):147-152.

Duplicación 10q23q24, un rearreglo cromosómico asociado a anomalías congénitas múltiples / 10q23q24 duplication, a chromosome rearrangement associated with multiple congenital anomalies

La duplicación en el brazo largo del cromosoma 10 (10q) es una cromosomopatía poco frecuente caracterizada clínicamente por retraso en el crecimiento prenatal y postnatal asociado a hipotonía, retraso en el desarrollo y hallazgos faciales específicos; que representa un reto diagnóstico en el ámbito clínico. Se presenta el caso de una recién nacida remitida para valoración multidisciplinara al Hospital Universitario San Ignacio en Bogotá, Colombia; en quien se documentó al momento del nacimiento fisura de labio y paladar, hipertelorismo, pabellón auricular con implantación baja e hipertrofia de labios menores. Se realizó resonancia magnética cerebral, la cual reportó pequeños quistes connatales adyacentes a las astas frontales de los ventrículos laterales, sin significado patológico, aparente malrotación de ambos hipocampos, hipertelorismo y queilopalatosquisis bilateral. El reporte del cariotipo con bandeo G confirmó complemento cromosómico 46,XX,dup(10)(q23q24); siendo el primer caso reportado en Colombia.

Duplication on the long arm of chromosome 10 (10q) is a rare chromosomopathy characterized clinically by delayed prenatal and postnatal growth associated with hypotonia, delayed development, and specific facial findings, which represents a diagnostic challenge in the clinical setting. We present the case of a newborn referred for multidisciplinary evaluation at the Hospital Universitario San Ignacio in Bogotá, Colombia; in whom cleft lip and palate, hypertelorism, low-set auricle and hypertrophy of the labia minora were documented at birth. Magnetic resonance imaging of the brain was performed, which reported small connatal cysts adjacent to the frontal horns of the lateral ventricles, without pathological significance, apparent malrotation of both hippocampi, hypertelorism, and bilateral cheilopalatoschisis. The G-band karyotype report confirmed chromosomal complement 46, XX, dup (10) (q23q24); being the first reported case in Colombia.

Oral, dental, and craniofacial features in chronic acid sphingomyelinase deficiency.

The aim of this study was to evaluate the oral, dental, and craniofacial features of individuals affected by the chronic forms of acid sphingomyelinase deficiency (ASMD). This study comprised a sample of adult and pediatric patients (n = 8) with chronic ASMD. The individuals underwent oral examinations to evaluate the occurrence of caries, as well as full-mouth periodontal examinations, to assess the occurrence and severity of periodontal diseases. Panoramic and profile radiographs were obtained to analyze dental conditions and craniofacial parameters. Participants also answered questionnaires to identify systemic impairment, parafunctional habits, and bruxism. Dental anomalies of size, shape, and number were found, with agenesis and microdontia being the predominant findings. The average of caries experience was 11.75 (±8.1). Only one patient had periodontal health and all adult individuals had periodontitis at different stages and degrees. Bruxism was found in 87.5% of the sample. The convex profile and maxillary and mandibular retrusion were the most relevant findings in the cephalometric analysis. It is concluded that individuals with chronic ASMD, in addition to several systemic manifestations, present significant modifications in their oral health, from a greater occurrence of dental anomalies, caries, periodontal disease, in addition to skeletal changes.

A comprehensive analysis of AHRR gene as a candidate for cleft lip with or without cleft palate.

Cleft lip and palate (CL/P) is among the most common congenital malformations and affects 1 in 700 newborns. CL/P is caused by genetic and environmental factors (maternal smoking, alcohol or drug use and others). Many genes and loci were associated with cleft lip/palate but the amount of heterogeneity justifies identifying new causal genes and variants. AHRR (Aryl-Hydrocarbon Receptor Repressor) gene has recently been related to CL/P however, few functional studies analyze the genotypephenotype interaction of AHRR with CL/P. Several studies associate the molecular pathway of AHRR to CL/P which indicates this gene as a functional candidate in CL/P etiology. METHODS: Systematic Literature Review was performed using PUBMED database with the keywords cleft lip, cleft palate, orofacial cleft, AHRR and synonyms. SLR resulted in 37 included articles. RESULTS: AHRR is a positional and functional candidate gene for CL/P. In silico analysis detected interactions with other genes previously associated to CL/P like ARNT and CYP1A1. AHRR protein regulates cellular toxicity through TCDD mediated AHR pathway. Exposure to TCDD in animal embryos is AHR mediated and lead to cleft palate due to palate fusion failure and post fusion rupture. AHRR regulates cellular growth and differentiation, fundamental to lip and palatogenesis. AHRR decreases carcinogenesis and recently a higher tumor risk has been described in CL/P patients and families. AHRR is also a smoking biomarker due to changed methylation sites found in smokers DNA although folate intake may partially revert these methylation alterations. This corroborates the role of maternal smoking and lack of folate supplementation as risk factors for CL/P. CONCLUSION: This research identified the importance of AHRR in dioxin response and demonstrated an example of genetic and environmental interaction, indispensable in the development of many complex diseases.

miRNAs as biomarkers of orofacial clefts: A systematic review.

Orofacial clefts are facial malformations caused by the improper development of the lips and palate. Many genetic and epigenetic molecules have been involved in the mechanisms of orofacial clefts, one of which are miRNAs. This systematic review aimed to identify miRNAs associated to non-syndromic orofacial clefts in humans. After applying a series of criteria, four studies were selected for analysis. In total, one hundred miRNAs were observed in the literature, of which 57 were reported as upregulated and 43 as downregulated in all orofacial cleft classifications. Moreover, nine miRNAs were differentially expressed only in cleft palate patients, which might suggest distinct regulatory mechanisms for the etiology of cleft lips and palates. We suggest broader population sampling in order to include diverse ethnic groups in the future, as well as analyses toward identifying miRNA target genes and pathways. We highlight the need for experimental validation and of these results to allow further translational approaches and clinical applications.

Latent TGF-beta binding protein-1 plays an important role in craniofacial development

Abstract Objective: This study aims to replicate the phenotype of Ltbp1 knockout mice in zebrafish, and to address the function of LTBP1 in craniofacial development. Methods: Whole mount in situ hybridization (WISH) of ltbp1 was performed at critical periods of zebrafish craniofacial development to explore the spatial-temporal expression pattern. Furthermore, we generated morpholino based knockdown model of ltbp1 to study the craniofacial phenotype. Results: WISH of ltbp1 was mainly detected in the mandibular jaw region, brain trunk, and internal organs such as pancreas and gallbladder. And ltbp1 colocalized with both sox9a and ckma in mandibular region. Morpholino based knockdown of ltbp1 results in severe jaw malformation. Alcian blue staining revealed severe deformity of Meckel's cartilage along with the absence of ceratobranchial. Three-dimension measurements of ltbp1 morphants jaws showed decrease in both mandible length and width and increase in open mouth distance. Expression of cartilage marker sox9a and muscle marker ckma was decreased in ltbp1 morphants. Conclusions: Our experiments found that ltbp1 was expressed in zebrafish mandibular jaw cartilages and the surrounding muscles. The ltbp1 knockdown zebrafish exhibited phenotypes consistent with Ltbp1 knockout mice. And loss of ltbp1 function lead to significant mandibular jaw defects and affect both jaw cartilages and surrounding muscles.

Supernumerary teeth in a patient with Turner syndrome: An unusual finding.

AIMS: Turner syndrome (TS) is a genetic disorder associated with abnormalities of the X-chromosome, occurring in about 1 in 2000 to 1 in 3000 live-born girls. We present a case of a 14-year-old girl with TS, who was referred to our outpatient clinic in 2016 because of an ectopic eruption. METHODS AND RESULTS: Dental clinical examination and radiographic investigation revealed eight supernumerary teeth, short roots, enamel hypoplasia, increased overjet, rotation and displacement of teeth, moderate gingivitis and morphological alteration of the upper right central incisor. Dental treatment included extraction of erupted supernumerary teeth, composite resin restoration, supragingival scaling and oral hygiene for plaque control. CONCLUSIONS: The unpublished finding of supernumerary teeth in our patient has led us to suggest the investigation of this dental developmental anomaly in other patients with Turner syndrome.

Orofacial dysfunction in cleft and non-cleft patients using nordic orofacial test - a screening study

Abstract Cleft lip, alveolus and palate is a congenital malformation caused by the lack of fusion of the lip and palate embryonic processes, which may disrupt the main functions of the stomatognathic system. Aim: This study aimed to assess the orofacial dysfunction in individuals with cleft lip, alveolus, and palate compared to non-cleft patients. One hundred and twenty individuals between 32 and 65 years of age were selected in the Craniofacial Center and in the School of Dentistry and divided into two groups: non-cleft patients (N-CLAP) and cleft lip, alveolus, and palate patients (CLAP). The two groups were matched by gender. Each individual was interviewed and submitted to a clinical evaluation during which the NOT-S was used to assess orofacial dysfunction. To verify the intra-examiner agreement, the values were compared using the Kappa test. The Mann-Whitney test compared performance on the NOT-S between the groups. The Chi-Square test compared the NOT-S domains between the groups. A comparison of the NOT-S scores between the groups revealed statistically significant differences in gender (p<0.001), but no statistically significant differences in the intragroup gender comparison were found. The assessment of the NOT-S domains between the N-CLAP and CLAP groups exhibited statistically significant differences in domains: breathing (p=0.021), chewing and swallowing (p<0.001), and dryness of the mouth (p=0.002) of the interview and significant differences in all domains of the clinical examination (p<0.001). Individuals with CLAP showed more orofacial dysfunction than non-cleft patients, without gender differences, after being assessed through the NOT-S.

Resumo A fissura de lábio, alvéolo e palato é uma malformação congênita causada pela falta de fusão dos processos embrionários labial e palatino, que podem comprometer as principais funções do sistema estomatognático. Utilizando o Nordic Orofacial Test - Screening (NOT-S), este estudo transversal observacional, objetivou avaliar a presença da disfunção orofacial nos indivíduos com fissura de lábio, alvéolo e palato em relação a indivíduos sem fissura ou anomalia craniofacial. Cento e vinte indivíduos entre 32 e 65 anos de idade foram selecionados e divididos em dois grupos: pacientes sem fissura labiopalatina (N-CLAP) e pacientes com fissura de lábio, alvéolo e palato (CLAP). Os dois grupos foram combinados por gênero. Cada indivíduo foi entrevistado e submetido a uma avaliação clínica durante a qual o NOT-S foi utilizado para avaliar a disfunção orofacial. O teste de Mann-Whitney comparou desempenho no NOT-S entre os grupos. O teste Qui-Square comparou os domínios NOT-S entre os grupos. A concordância intra-examinador foi K=0,75. Uma comparação dos escores de NOT-S entre os grupos revelou diferenças estatisticamente significativas no gênero (p<0,001), mas não foram encontradas diferenças estatisticamente significativas na comparação de gênero intragrupo. A avaliação dos domínios de NOT-S entre os grupos N-CLAP e CLAP apresentou diferenças estatisticamente significativas nos domínios II (p=0,021), IV (p<0,001) e VI (p=0,002) da entrevista e diferenças significativas em todos os domínios do exame clínico (p<0,001). Indivíduos com CLAP apresentaram maior presença de disfunção orofacial do que os indivíduos sem fissura labioapalatina, conforme avaliado pelo NOT-S.

Displasia Fibrosa. Presentación de un caso / Fibrous Dysplasia. Case Report

RESUMEN La Displasia Fibrosa es una rara patología benigna, generalmente asintomática, que afecta el tejido óseo. Debido al remplazo gradual del tejido óseo por tejido conectivo amorfo, se pueden producir alteraciones óseas estéticas y funcionales. Se presenta un paciente masculino, de la raza blanca, de 56 años de edad, al Servicio de Imagenología del Hospital Provincial Vladimir Ilich Lenin, de Holguín, Cuba, remitido de la consulta de Oftalmología, que refiere cefalea y trastornos visuales de largo tiempo de evolución. Con este caso pretendemos ofrecer una secuencia imagenológica para establecer el diagnóstico de la Displasia Fibrosa Monostótica, y brindar los principios básicos para el manejo adecuado de los pacientes con esta enfermedad.

ABSTRACT Fibrous Dysplasia is a rare benign pathology, generally asymptomatic, which affects bone tissue. Aesthetic and functional alterations may occur due to bone tissue gradual replacement by amorphous on connective tissue. This article describes a bibliographical revision on Fibrous Dysplasia, together with a clinical case of a 56 year-old white male patient; who attended Imagenology Service of Vladimir Ilich Lenin Hospital form Holguín, Cuba. The patient was suffering from headache and visual blurring for a long time, and he was previously assisted at the Ophthalmology consulting room. In this case, we offer an imagenological sequence to establish Monostotic Fibrous Dysplasia diagnose and the basic principles of management of patients who suffer from this disease.

CranFlow: An Application for Record-Taking and Management Through the Brazilian Database on Craniofacial Anomalies.

BACKGROUND: The World Health Organization has recognized the relevance of databases on craniofacial anomalies since . To date, there is no universal standard instrument/database focused on risk factors, clinical and genetic data collection, and follow-up that enables comparison between different populations and genotype-phenotype correlation. Although studies have shown that specific genes would impact outcomes, knowledge is not sufficient to subsidize cost-effectiveness strategies for diagnosis, surgical decision, and a multi-professional approach toward personalized medicine. METHODS: Based on a clinical genetic approach, a Web-based application named CranFlow-Craniofacial Anomalies: Registration, Flow, and Management has been developed. It prospectively collects clinical and genetic information for the Brazilian Database on Craniofacial Anomalies (syndromic and nonsyndromic orofacial cleft, 22q11.2 deletion syndrome, and other craniofacial related disorders). A comprehensive list of CranFlow's features is provided. RESULTS: We present preliminary results on 1546 cases already recorded and followed, which allows recognizing 10% of diagnosis changes. CONCLUSION: The identification of risk factors, consistent genetic approach associated with clinical data and follow-up result in valuable information to develop and improve personalized treatment and studies on genotype-phenotype correlation. Adoption of CranFlow in different clinical services may support comparison between populations. This application has the potential to contribute to improvements in healthcare, quality of services, clinical and surgical outcomes, and the standard of living of individuals with craniofacial anomalies. Birth Defects Research 110:72-80, 2018. © 2017 Wiley Periodicals, Inc.

Mandibulofacial dysostosis Bauru type: Refining the phenotype.

Mandibulofacial dysostosis (MFD) Bauru type (OMIM 604830) is a rare genetic condition characterized mainly by malar hypoplasia, orofacial cleft, and micrognathia. Here, we describe the clinical and radiographic sings of 13 individuals (12 female and 1 male) from eight unrelated kindreds with MFD Bauru type, including four previously reported cases, treated at the Hospital for Rehabilitation of Craniofacial Anomalies. The clinical phenotype was characterized by severe underdevelopment of mandible, midface hypoplasia, orofacial cleft, bitemporal narrowing, mild upper eyelid down slanting, high nasal bridge, thick and everted lower lip, minor ears abnormalities, and hearing loss. Radiographic aspects included downslanting of zygomatic arch, maxillary hypoplasia, microretrognathia, hypoplastic mandibular condyles, and ectopic external auditory canal. Recurrence was observed in two of eight families and the affected distribution pattern was compatible with autosomal dominant inheritance in one and autosomal recessive in another, indicating possible genetic heterogeneity for this condition. Clinical and radiographic findings in this report contribute to the delineation of this rare MFD.

Síndrome de Kabuki: presentación de un Caso y Revisión de la Literatura / Kabuki Syndrome: A case report and literature review

Resumen El síndrome de Kabuki (SK) es una patología muy rara, descrita por primera vez en 1981 por Niikawa y Kuroki en Japón. Se han publicado cerca de 400 casos a nivel mundial. En Colombia se conocen cinco casos diagnosticados y publicados; el caso objeto de este estudio sería el sexto en nuestro país. Presentamos la descripción del caso de una paciente de 2 años y 6 meses con rasgos dismórficos compatibles con síndrome de Kabuki. Examen físico: fisuras palpebrales elongadas, eversión del tercio lateral párpado inferior, cejas arqueadas con tercio lateral más despoblado, puente nasal deprimido, boca en carpa, paladar hendido, pabellones auriculares de baja implantación con rotación posterior. El síndrome de Kabuki se caracteriza por sus anomalías faciales peculiares que se consideran son la única manifestación que puede orientar al diagnóstico del mismo sin excepciones. Recientemente se han identificado mutaciones sin sentido y de corrimiento del marco de lectura, entre otras en el gen MLL2 en aproximadamente el 75 % de los casos y en una menor proporción deleciones y mutaciones sin sentido en el gen KDM6A.

Abstract Kabuki syndrome is a rare disease described by Kuroki and Niikawa in Japanese population in 1981. There are over 400 cases over the world and 5 cases described in Colombian population. Therefore this is the 6th Kabuki syndrome found in Colombia. We report a 2 years old female with Kabuki syndrome phenotype. Clinical examination showed: long palpebral fissures with eversion of the lateral third of the lower eyelids, a broad and depressed nasal tip, left palate and low setup ears. Kabuki syndrome includes facial features whit specific characteristics enough to classify the patients. However, there are some mutations in MLL2 gene present in almost 75 % of Kabuki syndrome. In addition there are some deletion and duplications abnormalities in KMD6A gene described in Kabuki syndrome patients.

Hemifacial microsomia: a literature review / Microsomía hemifacial: revisión de la literatura

ABSTRACT Hemifacial microsomia is the second congenital malformation in prevalence, after cleft lip and palate, and is described as a congenital alteration of the first and second branchial arches. As a condition of wide spectrum, its characteristics are expressed in many different ways and therefore treatments are usually individualized. This topic review discusses its etiology, classification, characteristics, and treatment with mandibular surgery.

RESUMEN La microsomía hemifacial corresponde a la segunda malformación congénita en prevalencia, luego de la fisura labiopalatina, y se describe como una alteración congénita del primer y el segundo arcos branquiales. Al ser una entidad en espectro, presenta características de expresión variable y por tanto los tratamientos son acordes a su individualidad. En esta revisión de tema se analizan su etiología, clasificaciones, características y tratamiento quirúrgico mandibular.

Manifestaciones clínicas del espectro óculo aurículo vertebral / Clinical manifestations of oculo auriculo vertebral spectrum

El Espectro óculo Aurículo Vertebral corresponde a un desorden heterogéneo y complejo que afecta el desarrollo de estructuras derivadas del primer y segundo arco branquial. Presenta un compromiso variable del macizo maxilofacial, condicionando el tratamiento de cada paciente a su expresión fenotípica. El objetivo de esta revisión de tema es describir las diversas características de este espectro. Para ello se realizó un análisis de la literatura científica con el fin de entregar una referencia actualizada sobre las principales manifestaciones clínicas, su diagnóstico, exámenes complementarios utilizados y posibles diagnósticos diferenciales. Dada su gran variabilidad, es de vital importancia que sea conocido no solo por el odontólogo, sino también por los equipos de salud, posibilitando la entrega de un diagnóstico oportuno a temprana edad y un manejo adecuado de las diferentes alteraciones que pueden presentar.

The Oculo Auriculo Vertebral spectrum corresponds to a heterogeneous and complex disorder that affects the development of structures derived from the first and second branchial arch. It has a variable commitment of maxillofacial structures , conditioning treatment for each patient to their phenotypic expression. The objective of this review article it's to describe various features of this spectrum . A scientific literature analysis was done with the aim of delivering an up to date reference regarding the main clinical manifestations, diagnosis, complementary exams used and possible differential diagnosis. Given its variable expression is that it becomes important to be known not only by the dentist, but also by health teams , allowing the delivery of timely early diagnosis and proper management of the different alterations that may present.

Pais frente à malformação craniofacial do filho: uma contribuição da enfermagem para a equipe interdisciplinar / Parents in view of their child's craniofacial ill-formation: a contribution from nursing to the multi-disciplinary team

Trata-se de uma pesquisa qualitativa descritiva que teve como objeto de estudo as estratégias de enfrentamento dos pais com o nascimento de uma criança com anomalia craniofacial. Objetivou identificar o impacto causado nos pais frente ao nascimento de um filho portador de anomalia craniofacial; descrever as estratégias de enfrentamento que os pais utilizam para estabelecer vinculação com o filho que apresenta malformação. Utilizou o método Narrativa de Vida, através da entrevista gravada com 15 mães e sete pais de crianças com malformação craniofacial. O estudo foi aprovado pelo Comitê de Ética da Universidade do Estado do Rio de Janeiro. A coleta de dados foi realizada entre junho e agosto de 2014. As narrativas apontaram para a emergência de três categorias: Ter um filho com anomalia craniofacial: situação impactante; Estratégias de enfrentamento utilizadas por pais de crianças com malformação craniofacial; Pais e profissionais da equipe de saúde: uma relação conturbada. As categorias puderam explicitar que a notícia da malformação gera impacto e crise na vida dos pais e no seio familiar. A grande expectativa na gravidez pelo bebê perfeito se transforma em frustração, choque e culpa. Diante dessa adversidade, as famílias começam a desenvolver estratégias de enfrentamento que auxiliam vinculação com seu filho malformado. Essa capacidade de desenvolver forças e habilidades para se adaptar à nova realidade, minimizando os efeitos negativos, é chamada de resiliência. As narrativas apontam a experiência religiosa e a rede de apoio como as principais estratégias de enfrentamento utilizadas pelos participantes. A equipe de saúde é chamada a apoiar os pais ao longo do processo de adaptação com o filho malformado. Os profissionais de saúde podem auxiliar no suporte e adaptação destes pais, diante da nova condição, sendo agentes promotores da escuta terapêutica...

This paper is a qualitative descriptive research that studies the parents' confrontation strategies when in the birth of a child with a craniofacial anomaly. It targeted to identify the impact on parents of a birth of a child with craniofacial anomaly; to describe the parents' confrontation strategies to create a bounding with their ill-formed child. This paper used the Life's Narrative method through an interview with fifteen mothers and seven fathers of children with craniofacial anomaly. This study was approved by the Rio de Janeiro State University Ethics Committee. The data gathering took place between June and August 2014. The narratives pointed to the emerging of three categories: having a child with craniofacial anomaly: impacting situation; Confrontation strategies used by the parents of children with craniofacial anomaly; Parents and healthcare workers: a disturbed relationship. The categories were able to clarify that the ill-formation's news generate an impact and a crisis in the parents' life and in the family unity. The pregnancy's big anticipation for a perfect baby turns into frustration, shock and guilt. In face of this adversity, the families start to develop confrontation's strategies that assist the bounding with the ill-formed child. This capacity to develop forces and abilities to adapt to this new reality, minimizing its negative effects, is called resilience. The narratives point to the religious experience and the support system as the main confrontation strategies used by the participants. The healthcare team is called to support the parents through the adapting process to an ill-formed child. The healthcare professionals can auxiliate on supporting those parents through adaptation to this new condition being promoting agents of the therapeutical listening...

Clinical and radiographic features of Hutchinson-Gilford progeria syndrome: A case report.

Hutchinson-Gilford progeria syndrome (HGPS) is a rare dysmorphic syndrome characterized by several features of premature aging with clinical involvement of the skin, bones, and cardiovascular system. HGPS has an estimated incidence of one in four million to one in eight million births. The main clinical features of HGPS include short stature, craniofacial dimorphism, alopecia, bone fragility, and cardiovascular disorders. The most frequent cause of death is myocardial infarction at a mean age of 13 years old. Dental manifestations include delayed development and eruption of teeth, discoloration, crowding and rotation of teeth, and displaced teeth. Cone beam computed tomography images revealed the absence of the sphenoid, frontal, and maxillary sinus, flattening of the condyles and glenoid fossa, and bilateral hypoplasia of the mandibular condyles. The disease is caused by mutations in lamin A/C (LMNA). Here, we present a case report of an 11-year-old boy with classical features of HGPS, which was caused by a de novo germ-line mutation (C1824T, G608G) in exon 11 of the LMNA gene. Some uncommon HGPS-associated features in our patient, such as alterations in the facial sinuses and hypoplasia of the condyles, contributed to the expansion of the phenotypic spectrum of this syndrome from a dentomaxillofacial perspective.

Síndrome de Kabuki: caracterización clínica, estudios genéticos, manejo preventivo de las complicaciones y asesoría genética / Kabuki syndrome: clinical, genetic, preventive management of complications and genetic counseling

Introducción: Kabuki hace referencia al teatro tradicional japonés, y el nombre del síndrome proviene de la semejanza de los pacientes al maquillaje facial usado por dichos actores. El síndrome de Kabuki es una patología dismorfológica, caracterizada por rasgos faciales particulares, entre ellos fisuras palpebrales amplias, puente nasal deprimido, cejas arqueadas con el tercio externo disperso y orejas prominentes. Todos estos rasgos son concomitantes con retraso mental, cardiopatías, nefropatías, entre otros. Debido a la presencia en mayor o menor número de veces de algunas patologías, se han dividido en anomalías menores y anomalías mayores. Objetivo: Presentar una revisión sobre las generalidades del síndrome de Kabuki, características clínicas, complicaciones y su manejo preventivo, así como los estudios genéticos realizados hasta la fecha y la asesoría genética. Metodología: se utilizaron las bases de datos Pubmed y SciELO, para la búsqueda de información. Resultados: se encontraron estudios publicados alusivos a los primeros casos del síndrome, hasta aquellos recientemente publicados en donde se identifica el gen MLL2 como etiología para este síndrome. Conclusiones: hasta la fecha, el diagnóstico se realiza por los hallazgos clínicos, aunque se puede detectar la mutación del gen MLL2. Para el diagnóstico se tienen presente los antecedentes familiares y los hallazgos al examen físico, principalmente los rasgos faciales propios de este síndrome. Complementando el diagnóstico, se debe llevar a cabo un manejo preventivo de las complicaciones para así evitar potenciales riesgos, además de ofrecer a la familia información necesaria durante la asesoría genética.

Introduction: Kabuki refers to traditional Japanese theater, and the syndrome's name comes from the similarity of the patients' facial makeup used by these actors. Kabuki syndrome is a dismorfological pathology characterized by particular facial features including wide palpebral fissures, depressed nasal tip, arched eyebrows with the lateral one-third dispersed or sparse, and prominent ears. All these features are concomitant, with mental retardation, cardiopathies, nephropathies, among others. Due to the presence in greater or lesser number of times certain pathologies, have been divided into minor and major abnormalities. Objective: present a review of the generalities of Kabuki syndrome, dismorfologicas features, clinical characteristics, complications, and genetic studies to date. Methods: we used the databases PubMed and SciELO, to search for information. Results: the published studies alluding to the first cases of the syndrome, even those published recently where MLL2 gene is identified as a possible candidate for this syndrome. Conclusions: until now the diagnosis is made by clinical findings, although it can detect the mutation of gene MLL2. For the diagnosis is given through the family history and physical examination findings, especially the facial features, characteristic of this syndrome. Complementing the diagnosis must be carry out a preventive management of complications and to avoid potential risks, and offer the family information during genetic counseling.

Vía aérea difícil / Difficult airway

Difficult airway is a life-threatening situation which compromises the permeability of the upper airway and thus adequate ventilation and oxygenation. Multiple factors, acute and chronic such as: infectious, neoplastic and trauma have been associated with critical airway. Morbidity and mortality related to a difficult airway management remains as a significant problem in children, so is essential for the pediatric health team to be trained to recognize and anticipate situations that in clinical practice might determine a critical airway. The aim of this review is to provide concepts and guidance to assess patients with potentially difficult airway.

Una vía aérea difícil condiciona una situación con riesgo vital, ya que pone en peligro la permeabilidad de la vía aérea superior y con esto la capacidad de mantener una adecuada ventilación y oxigenación. Múltiples factores, tanto agudos como crónicos, entre ellos factores anatómicos propios del niño/a, complicaciones infecciosas, neoplásicas y/o traumáticas se han asociado con una vía aérea crítica. La morbilidad y mortalidad asociada al manejo inadecuado de esta condición continua siendo un problema significativo en la edad pediátrica; siendo fundamental que el equipo de salud se encuentre entrenado en reconocer y anticipar situaciones que en la práctica clínica podrían asociarse con una vía aérea difícil o crítica. El objetivo de la presente revisión es otorgar conceptos y una orientación en el enfrentamiento de los pacientes con una vía aérea potencialmente difícil.