Abnormalities in pharyngeal arch-derived structures in SATB2-associated syndrome.

SATB2-associated syndrome (SAS, glass syndrome, OMIM#612313) is a neurodevelopmental autosomal dominant disorder with frequent craniofacial abnormalities including palatal and dental anomalies. To assess the role of Satb2 in craniofacial development, we analyzed mutant mice at different stages of development. Here, we show that Satb2 is broadly expressed in early embryonic mouse development including the mesenchyme of the second and third arches. Satb2-/- mutant mice exhibit microglossia, a shortened lower jaw, smaller trigeminal ganglia, and larger thyroids. We correlate these findings with the detailed clinical phenotype of four individuals with SAS and remarkable craniofacial phenotypes with one requiring mandibular distraction in childhood. We conclude that the mouse and patient data presented support less well-described phenotypic aspects of SAS including mandibular morphology and thyroid anatomical/functional issues.

Evaluation of maxillary arch symmetry in cleft patients undergoing orthodontic treatment: a comparative study.

OBJECTIVE: Patients with a cleft require structured procedures to achieve feasible treatment results. Since many treatment protocols coexist without being superior to one another, this study investigated the Saarland University Hospital treatment concept for patients with unilateral and bilateral clefts to evaluate its effects upon dental arch dimensions until the early mixed dentition. MATERIAL AND METHODS: Digitized plaster models were used for data collection. Records of 83 patients (Cleft n = 41 [UCLP n = 28, BCLP n = 13], Non-Cleft Control n = 42) comprised 249 casts. The evaluation included established procedures for measurements of edentulous and dentate jaws. Statistics included Shapiro-Wilk, Friedmann, Wilcoxon and Mann-Whitney-U-Tests for the casts. The level of significance was set at p < 0.05. RESULTS: The cast analysis showed an approximation of arch dimensions towards those of age-matched patients without a cleft until early mixed dentition. The mean values of patients with and without cleft lip and palate were almost indistinguishable when compared in primary and/or early mixed dentition. CONCLUSIONS: The evaluated treatment concept leads to feasible outcomes regarding dental arches in patients with unilateral and bilateral clefts compared to an age-matched non-cleft control. CLINICAL RELEVANCE: The evaluated treatment concept leads to favorable outcomes until early mixed dentition.

Navigating Complexity in Mandibular Condyle Aplasia and Temporomandibular Joint Ankylosis in a Five-Year-Old Child: A Case Report.

Mandibular condyle aplasia and temporomandibular joint (TMJ) ankylosis represent complex challenges in diagnosis and management, affecting jaw function and facial aesthetics. This case report presents a five-year-old female child with a right-sided small jaw and facial asymmetry due to left-sided TMJ ankylosis. The coexistence of mandibular condyle aplasia and TMJ ankylosis underscores the need for comprehensive evaluation and tailored treatment approaches. Syndromic associations, such as Goldenhar syndrome and Treacher Collins syndrome, further complicate diagnosis and management. Surgical intervention involving left-side gap arthroplasty and reconstruction using a costochondral graft/temporalis fascia was performed under general anesthesia. However, postoperative complications, including decreased mouth opening and left-sided lower motor neuron facial palsy, necessitated further surgical debridement and drainage of an abscess. The case emphasizes the importance of a multidisciplinary approach in addressing complex craniofacial anomalies, with treatment strategies such as bone grafting and tailored surgical interventions offering promising outcomes. Understanding the multifaceted etiology of mandibular condyle aplasia and TMJ ankylosis is crucial for optimal management, highlighting the collaborative efforts required for achieving favorable patient outcomes.

A homozygous SP7/OSX mutation causes osteogenesis and dentinogenesis imperfecta with craniofacial anomalies.

Osteogenesis imperfecta (OI) is a heterogeneous spectrum of hereditary genetic disorders that cause bone fragility, through various quantitative and qualitative defects of type 1 collagen, a triple helix composed of two α1 and one α2 chains encoded by COL1A1 and COL1A2, respectively. The main extra-skeletal manifestations of OI include blue sclerae, opalescent teeth, and hearing impairment. Moreover, multiple genes involved in osteoblast maturation and type 1 collagen biosynthesis are now known to cause recessive forms of OI. In this study a multiplex consanguineous family of two affected males with OI was recruited for genetic screening. To determine the causative, pathogenic variant(s), genomic DNA from two affected family members were analyzed using whole exome sequencing, autozygosity mapping, and then validated with Sanger sequencing. The analysis led to the mapping of a homozygous variant previously reported in SP7/OSX, a gene encoding for Osterix, a transcription factor that activates a repertoire of genes involved in osteoblast and osteocyte differentiation and function. The identified variant (c.946C > T; p.Arg316Cys) in exon 2 of SP7/OSX results in a pathogenic amino acid change in two affected male siblings and develops OI, dentinogenesis imperfecta, and craniofacial anomaly. On the basis of the findings of the present study, SP7/OSX:c. 946C > T is a rare homozygous variant causing OI with extra-skeletal features in inbred Arab populations.

Spatial Multi-omics Reveals the Role of the Wnt Modulator, Dkk2, in Palatogenesis'.

Multiple genetic and environmental etiologies contribute to the pathogenesis of cleft palate, which is the most common of the inherited disorders of the craniofacial complex. Insights into the molecular mechanisms regulating osteogenic differentiation and patterning in the palate during embryogenesis are limited and needed for the development of innovative diagnostics and cures. This study used the Pax9-/- mouse model with a consistent phenotype of cleft secondary palate to investigate the role of Pax9 in the process of palatal osteogenesis. Although prior research has identified the upregulation of Wnt pathway modulators Dkk1 and Dkk2 in Pax9-/- palate mesenchyme, limitations of spatial resolution and technology restricted a more robust analysis. Here, data from single-nucleus transcriptomics and chromatin accessibility assays validated by in situ highly multiplex targeted single-cell spatial profiling technology suggest a distinct relationship between Pax9+ and osteogenic populations. Loss of Pax9 results in spatially restricted osteogenic domains bounded by Dkk2, which normally interfaces with Pax9 in the mesenchyme. Moreover, the loss of Pax9 leads to a disruption in the normal osteodifferentiaion of palatal osteogenic mesenchymal cells. These results suggest that Pax9-dependent Wnt signaling modulators influence osteogenic programming during palate formation, potentially contributing to the observed cleft palate phenotype.

Use of an Orthodontic and Otolaryngological Approach in an Infant with Holoprosencephaly.

Holoprosencephaly is a complex human brain malformation resulting from incomplete cleavage of the prosencephalon into both hemispheres. Congenital nasal pyriform aperture stenosis (CNPAS) is sometimes found in patients with mild forms of holoprosencephaly. Surgical treatment is required. Low-invasive surgical approaches involve balloon dilation of the pyriform opening. We present the case of an 8-day-old girl diagnosed with holoprosencephaly, CNPAS, and the presence of a solitary median maxillary central incisor. Once examined by neonatologist, geneticist, pneumologist, otolaryngologist, and pediatric dentist, a combined otolaryngological-orthodontic approach was used. The obstruction of the right nasal cavity was treated by widening the nasal cavities and stabilizing them with a balloon dilation technique. After surgery, the respiratory space was increased by applying a neonatal palatal expander plate (NPEP) considering the palatal deformity: ogival shaped, anterior vertex growth direction, reduction of transverse diameters. The NPEP promoted distraction of the median palatine suture and assisted the nasal dilation. Therefore, after the insertion of NPEP, the physiological sucking-swallowing mechanism was activated. In infants with CNPAS, NPEP can be useful to ensure the safe stability of nasal dilation. A multidisciplinary approach is fundamental. In our experience, the close collaboration between an otolaryngologist and orthodontist is essential for the management of the patient with CNPAS.

The Use of Ultrasound-Guided 3D-Constructed Obturator Device in the Management of Cleft Lip and Palate: A Case Series.

Oral clefts represent a significant craniofacial anomaly in neonates, presenting multifaceted challenges such as feeding difficulties, recurrent ear infections, speech impediments, poor growth, hearing impairments, and dental misalignments. These anomalies not only affect physical health but also have profound psychosocial implications for affected individuals and their families. Current management strategies aim to address these challenges comprehensively, and recent advancements in technology have offered innovative solutions. Among these, the integration of ultrasound-guided (USG) three-dimensional (3D)-constructed obturator devices has emerged as a promising approach to enhancing patient outcomes, particularly in achieving facial symmetry and facilitating early nutritional rehabilitation. This study presents a detailed case series of three term infants born to non-consanguineous parents with appropriate birth weights for their gestational age, each diagnosed with a unilateral cleft lip and palate (UCLP). The first infant also presented with left-hand polydactyly and a preauricular sinus, while the second was diagnosed with multicystic kidney disease based on kidney, ureter, and bladder (KUB) scan findings. Collaborating with the Smile Train organization and the maxillofacial surgery team, a comprehensive management plan was devised. In the initial phase, intraoral scanning (Medit Intraoral Scanner™, Seoul, South Korea; done at Saveetha Medical College and Hospitals, Chennai) and digital printing of the obturator plate were performed to capture precise anatomical details. Subsequently, 3D printing technology (Ender 3D Printer™, Creality, Shenzhen, China; done at Saveetha Medical College and Hospitals, Chennai) was employed to fabricate a customized obturator plate equipped with a nasal stent. This ultrasound (US)-guided 3D-constructed obturator device was designed to fit each infant's unique oral anatomy, providing optimal support and alignment. The implementation of this device within a week post birth played a pivotal role in expediting the initiation of direct breastfeeding and nutritional rehabilitation. Furthermore, one of the infants underwent cleft lip surgical repair at four months of age, showcasing the device's compatibility with subsequent surgical interventions. The utilization of US-guided 3D-constructed obturator devices in the management of cleft lip and palate (CLP) has demonstrated significant clinical benefits. These devices contribute to reduced facial deformities, mitigate nasal cartilage sagging, and foster enhanced weight gain. Additionally, they facilitate successful breastfeeding, thereby promoting early nutritional recovery. Moreover, the improved facial symmetry and cheek fullness resulting from this approach contribute to accelerated rehabilitation, thereby reducing the societal stigma often associated with craniofacial anomalies.

Intubation in a Case of Ectodermal Dysplasia During Surgery: A Case Report.

Ectodermal dysplasia, a heterogeneous group of rare genetic disorders, is characterized by the aberrant development of ectodermal structures, leading to various clinical anomalies. This case report presents a unique and challenging case of a 33-year-old male with ectodermal dysplasia who underwent Le Fort III advancement and implant rehabilitation surgery to address severe craniofacial and dental deficiencies. This case, characterized by facial dysmorphism, craniofacial anomalies, and the absence of a nasal bone, highlights the complexity of surgical planning required to address these diverse clinical features. The crucial element of this report is the innovative approach to airway management through trans mylohyoid/submental intubation, which successfully navigated the patient's aberrant anatomy. Multidisciplinary collaboration played a pivotal role in achieving a holistic and patient-centered approach. By sharing this case, we aim to provide insights into the nuances of managing complex patients with ectodermal dysplasia, emphasizing the importance of individualized care, innovative techniques, and interdisciplinary teamwork to optimize patient outcomes and contribute to advancing medical knowledge.

Exploring the origins of neurodevelopmental proteasomopathies associated with cardiac malformations: are neural crest cells central to certain pathological mechanisms?

Neurodevelopmental proteasomopathies constitute a recently defined class of rare Mendelian disorders, arising from genomic alterations in proteasome-related genes. These alterations result in the dysfunction of proteasomes, which are multi-subunit protein complexes essential for maintaining cellular protein homeostasis. The clinical phenotype of these diseases manifests as a syndromic association involving impaired neural development and multisystem abnormalities, notably craniofacial anomalies and malformations of the cardiac outflow tract (OFT). These observations suggest that proteasome loss-of-function variants primarily affect specific embryonic cell types which serve as origins for both craniofacial structures and the conotruncal portion of the heart. In this hypothesis article, we propose that neural crest cells (NCCs), a highly multipotent cell population, which generates craniofacial skeleton, mesenchyme as well as the OFT of the heart, in addition to many other derivatives, would exhibit a distinctive vulnerability to protein homeostasis perturbations. Herein, we introduce the diverse cellular compensatory pathways activated in response to protein homeostasis disruption and explore their potential implications for NCC physiology. Altogether, the paper advocates for investigating proteasome biology within NCCs and their early cranial and cardiac derivatives, offering a rationale for future exploration and laying the initial groundwork for therapeutic considerations.

Management of a Rare Tessier 30 Median Mandibular Cleft Anomaly: A Comprehensive Review.

Introduction: The median mandibular cleft (MMC) is a rare craniofacial anomaly manifesting as a cleft of the lower lip and mandible, which may extend to the neck to a variable extent and severity. Its management involves a timely, staged, and multidisciplinary approach. Unlike for maxillary cleft lip and palate, the literature on this anomaly is scarce and scattered. Also, guidelines for the management of mandibular cleft are not clearly outlined. This narrative review aims to consolidate the prevalence, classification, pathophysiology, and management of MMC. Materials and methods: A literature search was performed on PubMed, SCOPUS, and Web of Science for terms "Mandibular cleft" OR "Tessier 30." From the preliminary search, n = 68 articles were hand-filtered as per relevance to MMC from the title and abstract. Results: Among these articles, n = 56 were case reports, n = 2 were articles related to genetic associations, n = 4 syndromes associated, n = 3 discussed the classification of craniofacial clefts, and n = 3 were literature reviews. The findings from the literature are presented under subheadings embryonic origin, clinical presentation, diagnostic workup, and multidisciplinary management of MMC. Conclusion: Traditionally, MMC was treated by multistep surgical procedures; however, the contemporary approach promotes early and single-step correction of both soft and hard tissue defects for better growth outcomes. These cases demand comprehensive workup and timely management. Newer innovations, such as the use of BMPs and resorbable reduction plates, need further validation. How to cite this article: Katyal S, Mohanty S, Miglani S, et al. Management of a Rare Tessier 30 Median Mandibular Cleft Anomaly: A Comprehensive Review. Int J Clin Pediatr Dent 2023;16(6):875-881.

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.

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.

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.

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.

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.

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.

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.

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.

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.