Duplicación 10q23q24, un rearreglo cromosómico asociado a anomalías congénitas múltiples

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.

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.

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...

Orthodontic and surgical management of cleidocranial dysplasia / 대한치과교정학회지

Cleidocranial dysplasia (CCD), an autosomal dominant disorder with a prevalence of 1 in 1,000,000 individuals, is mainly caused by mutations in Runx2, a gene required for osteoblastic differentiation. It is generally characterized by hypoplastic clavicles, narrow thorax, and delayed or absent fontanel closure. Importantly, its orofacial manifestations, including midfacial hypoplasia, retained primary teeth, and impacted permanent and supernumerary teeth, severely impede the well-being of affected individuals. Successful treatment of the orofacial problems requires the combined efforts of dental specialists. However, only a few successfully treated cases have been reported because of the rarity of CCD and complexity of the treatment. This article presents the University of California, San Francisco (UCSF) treatment protocol for the dentofacial manifestations of CCD based on two treated and 17 diagnosed cases. The records of two patients with CCD who had been treated at the UCSF School of Dentistry and the treatment options reported in the literature were reviewed. The UCSF treatment protocol produced a successful case and a partially successful one (inadequate oral hygiene in the retention stage resulted in decay and loss of teeth). It provides general guidelines for successfully treating the orofacial manifestations of CCD.

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.

Complejo agnatia holoprosencefalia: informe de caso / Agnathia holoprosencephaly complex: case report

Se presenta un caso de complejo agnatia holoprosencefalia y se realiza una revisión de la literatura, en relación con la compleja etiología genética y embriológica de este conjunto de malformaciones mayores de la cara y el sistema nervioso central. Se trata del primer caso que se informa en la literatura colombiana.

A case report of the agnathia holoprosencephaly complex and a review of the literature related to the complex genetic and embryologic aetiology of this group of major birth defects of face and central nervous system are informed. The present clinical case is the first reported in Colombia.

A Case of Raine Syndrome

Raine syndrome was described as an unknown syndrome in 1989. It is characterized by severe craniofacial anomalies with microcephaly, hypoplastic nose, depressed nasal bridge, exophthamos/protosis, gum hypertrophy, cleft palate, low-set ears, small mandible, narrow chest, wide cranial sutures and choanal atresia or stenosis, by generalized osteosclerosis with subperiosteal thickening of ribs, clavicles and diaphysis of long bones, and by intracranial calcifications in the particularly periventricular area. It undergoes an autosomal recessive inheritance. Twelve cases of Raine syndrome have been reported in the literature. However, a case of Raine syndrome in Korea has not been reported yet. Therefore, we describe a female newborn with Raine syndrome with a brief review of the literatures.