Síndrome de Wildervanck: reporte de un caso clínico / Wildervanck syndrome: clinical case report

El síndrome de Wildervanck (cérvico-óculo-acústico) es una patología muy rara, caracterizada por la tríada clásica de fusión de vértebras cervicales o anomalía de Klippel-Feil, síndrome de Duane (paresia del VI par craneal) e hipoacusia. Se han descrito, además, otras afecciones a nivel vascular, cardíaco y musculoesquelético. En este caso clínico, describimos a una paciente que cumple la tríada cardinal, además de presentar datos clínicos adicionales que no han sido reportados con anterioridad, lo cual contribuye a la ampliación del fenotipo de la enfermedad. Asimismo, realizamos una revisión de la literatura respecto a este síndrome

Wildervanck syndrome (also known as cervico-oculo-acoustic dysplasia) is a very rare disease, characterized by the typical triad of cervical vertebral fusion or Klippel-Feil anomaly, Duane syndrome (paresis of the sixth cranial nerve), and hearing loss. Other vascular, cardiac, and musculoskeletal conditions have also been described. In this case report, we describe a patient who met the cardinal triad and also presented additional clinical data that have not been previously reported, which contribute to broadening the disease phenotype. We have also reviewed the bibliography related to this syndrome.

Oculo-facio-cardio-dental syndrome caused by BCOR gene mutations: a case report / 中国当代儿科杂志

A full-term female infant was admitted at 5 hours after birth due to heart malformations found during the fetal period and cyanosis once after birth. Mmultiple malformations of eyes, face, limbs, and heart were noted. The whole-exome sequencing revealed a pathogenic heterozygous mutation, c.2428C>T(p.Arg810*), in the BCOR gene. The infant was then diagnosed with oculo-facio-cardio-dental syndrome. He received assisted ventilation to improve oxygenation and nutritional support during hospitalization. Right ventricular double outlet correction was performed 1 month after birth. Ocular lesions were followed up and scheduled for elective surgery. The possibility of oculo-facio-cardio-dental syndrome should be considered for neonates with multiple malformations of eyes, face, and heart, and genetic testing should be performed as early as possible to confirm the diagnosis; meanwhile, active ophthalmic and cardiovascular symptomatic treatment should be given to improve the prognosis.

Fibrosis pulmonar familiar en el síndrome de Hermansky-Pudlak

La fibrosis pulmonar familiar en el contexto del síndrome de Hermansky-Pudlak es una entidad nosológica poco frecuente y cuyo único enfoque terapéutico definitivo es el trasplante pulmonar en los estadios avanzados. Describimos algunos aspectos clínicos diagnósticos y terapéuticos que configuran el manejo de las enfermedades huérfanas en países como el nuestro.

Family pulmonary fibrosis in the context of Hermansky-Pudlak syndrome is a rare nosological entity whose only definitive therapeutic approach is lung transplantation in the advanced stages. We describe some diagnostic and therapeutic clinical aspects that shape the management of orphan diseases in countries like ours.

Contenidos de coordinación óculo-pédica en conducción del balón para fútbol femenino juvenil. Validación por especialistas / Conteúdos da coordenação óculo-pédica no manejo de bolas para o futebol feminino júnior. Validação por especialistas / Oculo-pedic coordination contents in ball conduction for juvenile female soccer. Validation by specialists

RESUMEN La coordinación óculo-pédica se refiere a movimientos realizados con la coordinación visual con el pie, elemento motriz de utilidad para diversos deportes y, en especial, para establecer estrategias de trabajo en futbolistas de diversas categorías de formación. Esta investigación tiene como objetivo validar teóricamente mediante especialistas una propuesta de ejercicios físicos que potencien la coordinación óculo-pédica, en la técnica de conducción del balón para futbolistas juveniles del género femenino. Esta investigación es de tipo descriptiva-correlacional, de orden cualitativa. Se seleccionan a 30 especialistas, divididos en tres niveles de competencias profesionales, a los cuales se les aplica un cuestionario para evaluar tres indicadores prepropuesta, que validan una idea de entrenamiento coordinativo (pertinencia, complejidad, prioridad), más un cuestionario que evaluará un indicador (efectividad) luego de diseñada la propuesta de intervención con 30 ejercicios físicos especializados. Como resultados, se plantea que no se evidencian diferencias significativas en tres indicadores (complejidad: p=0.850; prioridad: p=0.075; efectividad: p=0.419) de cuatro posibles (pertinencia: p=0.014) por nivel de especialistas, existiendo consenso en las calificaciones emitidas. Los indicadores prepropuesta presentaron una evaluación cualitativa entre regular a muy bien y el indicador evaluador de la propuesta obtiene una calificación cualitativa general De acuerdo. Se evidencia, en sentido general, el criterio consensado de varios especialistas con competencias diversas, calificando cuantitativa y cualitativamente, de forma positiva, la calidad de la prepropuesta y la propuesta.

RESUMO A coordenação óculo-pédica refere-se a movimentos feitos com a coordenação visual com o pé, um elemento motor útil para vários desportos e, especialmente, para estabelecer estratégias de trabalho em jogadores de futebol de várias categorias de treino. O objetivo desta investigação é validar teoricamente através de especialistas uma proposta de exercícios físicos que potenciem a coordenação óculo-pédica, na técnica de condução de bola para jovens jogadoras de futebol feminino. Esta é uma investigação descritivo-correlacional e qualitativa. São selecionados trinta especialistas, divididos em três níveis de competências profissionais, aos quais é aplicado um questionário para avaliar três indicadores de pré-proposta, que validam uma ideia de formação de coordenação (pertinência, complexidade, prioridade), mais um questionário que avaliará um indicador (eficácia) após a concepção da proposta de intervenção com 30 exercícios físicos especializados. Como resultados, afirma-se que não são evidenciadas diferenças significativas em três indicadores (complexidade: p=0,850; prioridade: p=0,075; eficácia: p=0,419) de quatro possíveis (pertinência: p=0,014) por nível de especialistas, consenso existente nas qualificações emitidas. Os indicadores de pré-proposta apresentaram uma avaliação qualitativa entre regular a muito bom e o indicador do avaliador da proposta obtém uma qualificação qualitativa geral Acordado. É evidente, num sentido geral, o critério consensual de vários especialistas com diversas competências, qualificando quantitativa e qualitativamente, de forma positiva, a qualidade da pré-proposta e da proposta.

ABSTRACT The oculo-pedic coordination refers to movements made with the visual coordination with the foot, a useful motor element for various sports and especially for establishing work strategies in soccer players of various teaching-educational categories. The objective of this research is to theoretically validate, through specialists, a physical exercises proposal that enhance the oculo-pedic coordination in the ball conduction technique for female youth soccer players. This is a descriptive-correlational research of qualitative order. Thirty specialists are selected, divided into three levels of professional competencies, to whom a questionnaire is applied to evaluate three pre-proposal indicators, which validate an idea of coordination training (relevance, complexity, priority), plus a questionnaire that will evaluate an indicator (effectiveness) after designing the intervention proposal with 30 specialized physical exercises. As results, there are no significant differences in three indicators (complexity: p=0.850; priority: p=0.075; effectiveness: p=0.419) out of four possible indicators (relevance: p=0.014) by level of specialists, and there is consensus in the ratings issued. The pre-proposal indicators presented a qualitative evaluation between fair to very good and the evaluator indicator of the proposal obtained an overall qualitative rating of Agreed. It is evident, in general, the consensus criterion of several specialists with diverse competences, qualifying quantitatively and qualitatively, in a positive way, the quality of the pre-proposal and the proposal.

Síndrome de Goldenhar: Manifestaciones clínicas y revisión de literatura / Goldenhar Syndrome: clinical manifestation and literature review

El síndrome de Goldenhar es una condición rara cuya etiología aún no se ha establecido, forma parte de las anomalías del primer y segundo arco branquial, caracterizándose por una variedad de anomalías que involucran estructuras craneofaciales, vértebrales, órganos internos y generalmente ocurre de manera unilateral. A continuación se describe el caso de un neonato con microsomía hemifacial, microtia, apéndice preauricular e hipoplasia de pabellón auricular. Los diversos aspectos de esta enfermedad rara se han discutido con énfasis en el diagnóstico oportuno y el enfoque multidisciplinario para manejarla.

Goldenhar syndrome is a rare condition whose etiology has not yet been established, is part of the anomalies of the first and second branchial arch, characterized by a variety of abnormalities involving craniofacial structures, vertebrae, internal organs and usually occurs unilaterally. The following describes the case of a neonate with hemifacial microsomy, microtia, preauricular appendix and hypoplasia of the auricular pavilion. The various aspects of this rare disease have been discussed with emphasis on timely diagnosis and the multidisciplinary approach to managing it.

Alterações funcionais e estruturais do complexo craniofacial na síndrome branquio-óculo-facial: relato de caso / Functional and structural alterations of the craniofacial complex in the branchio-oculo-facial syndrome: case report / Alteraciones funcionales y estructurales del complejo craneofacial en el síndrome branquio-óculo-facial: relato de caso

Objetivo: Descrever características clínicas, alterações funcionais e estruturais de complexo craniofacial de sujeito com síndrome branquio-óculo-facial. Método: Paciente de 13 anos e 3 meses, respiradora oral com perda auditiva condutiva de grau moderadamente severo em ambas as orelhas, diagnosticada com síndrome branquio-óculo-facial, apresentou: fissura labiopalatina transforame bilateral completa corrigida por labioplastia e palatoplastia primárias, assimetria facial, fístula em região anterior de palato duro, atresia maxilar transversa, dentinogênese imperfeita, trespasse horizontal negativo, oclusão Classe I de Angle e mordida aberta anterior e lateral bilateralmente, desvio severo da linha média superior para a esquerda, incisivo lateral superior permanente semi-erupcionado por vestibular do canino superior decíduo do lado esquerdo, retenção prolongada do segundo molar inferior decíduo direito, apinhamento dentário inferior, hipotonia e posicionamento inadequado de língua, ausência de vedamento labial em repouso, deglutição adaptada, alteração na mobilidade de lábios, bochechas e palato mole com escape de ar nasal na fala, caracterizando disfunção velofaríngea. Sujeitos com fissura lábiopalatina podem apresentar grande variedade de alterações na produção dos fones. Paciente apresenta crescimento deficiente da maxila que, como relatado na literatura, pode alterar o desenvolvimento do terço médio da face com repercussão na oclusão dentária, fala e formato do nariz. Conclusão: As alterações clínicas funcionais e estruturais relatadas são na maioria do complexo craniofacial, demonstrando a importância da otorrinolaringologia, fonoaudiologia e odontologia na terapêutica interdisciplinar dos pacientes com a síndrome.

Introduction: Branchio-Oculo-Facial Syndrome (BOFS) is a rare autosomal disease with variable expression, dependent on genetic mutations, whose phenotype is characterized by ocular, hearing and craniofacial alterations. Purpose: describe the clinical features, the functional and structural alterations in the craniofacial complex of a subject with branchio-oculo-facial syndrome. Method: A 13-year and 3-month-old girl, with moderately severe conductive bilateral hearing loss diagnosed with BOFS, presented: bilateral cleft lip and palate treated by labioplasty and palatoplasty, facial asymmetry, anterior maxillary fistula, transverse maxillary atresia, imperfect dentinogenesis, negative horizontal trespass, Angle Class I bilateral, anterior and lateral open bite on both sides, severe left superior midline deviation, eruption by vestibular of the superior canine on the left side, prolonged retention of the second inferior molar right deciduous, lower dental crowding, hypotonia and inadequate tongue positioning, absence of labial resting at rest, adapted swallowing, alteration in mobility of lips, cheeks and palate with nasal air exhaust in speech, characterizing velopharyngeal dysfunction. There are few publications of BOFS, given its rarity. Subjects with cleft lip and palate may present a wide variety of changes in the production of headphones. Patient presents deficient growth of the maxilla which, as reported in the literature, may alter the development of the middle third of the face with repercussion in dental occlusion, speech and nose shape. Conclusion: The functional and structural clinical alterations reported are the majority of the craniofacial complex, demonstrating the importance of otorhinolaryngology, speech therapy and orthodontics in the interdisciplinary therapy of patients with BOFS.

Introducción: El síndrome branquio-oculo-facial (BOFS) es una enfermedad autosómica rara con expresión variable, dependiente de las mutaciones genéticas, caracterizada por alteraciones oculares, auriculares y craneofaciales. Propósito: describir características clínicas, alteraciones funcionales y estructurales del complejo craneofacial de un sujeto con BOFS. Método: Niña de 13 años y 3 meses de edad, con pérdida de audición conductiva moderadamente grave bilateralmente diagnosticada con SBOF, presentó: paladar y labio hendido bilateral tratado por labioplastia y palatoplastia primarias, asimetría facial, fístula maxilar anterior, atresia maxilar transversal, dentinogénesis imperfecta, traspaso horizontal negativo, clase I de Angle bilateral, mordida abierta anterior y lateral bilateralmente, desviación severa de la línea media superior izquierda, erupción vestibular del canino superior del lado izquierdo, retención prolongada del segundo molar inferior derecho deciduo, apiñamiento dental, hipotonía e inadecuada colocación de la lengua, ausencia de sello labial en reposo, deglución adaptada, alteración de movilidad de labios, mejillas y velo del paladar con escape de aire nasal y disfunción velofaríngea Hay pocas publicaciones de BOFS, dada su rareza. Los sujetos con labio y paladar hendido pueden presentar una gran variedad de cambios en la producción de auriculares. El paciente presenta crecimiento deficiente del maxilar que, según se informa en la literatura, puede alterar el desarrollo del tercio medio de la cara con repercusión en la oclusión dental, habla y la forma de la nariz. Conclusión: Alteraciones clínicas funcionales y estructurales la mayoría del complejo craniofacial. Eso demuestra la importancia de otorrinolaringología, fonoaudiología y odontología en la terapia interdisciplinaria de pacientes con SBOF.;Introdução: A Síndrome Branquio-Óculo-Facial é uma doença autossômica rara com expressão variável, dependente das mutações genéticas, cujo fenótipo caracteriza-se por alterações oculares, auriculares e craniofaciais.

A rare case of Goldenhar syndrome: oculo-auriculo-vertebral spectrum

Franceschetti-Goldenhar syndrome or Goldenhar syndrome, also known as facio-auricular-spectrum (FAV), first and second branchial arch syndrome, or Oculo-Auriculo-Vertebral (OAV) spectrum is a rare congenital malformation which encompasses various morphological and functional abnormalities. The incidence of Goldenhar syndrome has been reported between 1:3500 to 1:5600 children, with a male: female ratio of 3:23. The incidence is higher, about 1 in 1000 children with congenital deafness. The exact etiology is not known. However, it is possible that abnormal embryonic vascular supply, disrupted mesodermal migration or some other factors leads to defective formation of the brachial and vertebral system. Most of the cases have been sporadic. Autosomal dominant, autosomal recessive and multifactorial modes of inheritance have also been suggested. Chromosomal studies have not revealed any abnormality. Authors report a case of a neonate with hemifacial microsomia, bilateral cleft lip and cleft palate, right deformed pinna, right facial palsy, single umbilical artery and congenital heart disease.

Goldenhar Syndrome: A Case Report

To report an unusual variant of Goldenhar syndrome We reviewed a 7 year old boy attending our OPD with left upper eyelid coloboma and multiple congenital deformities including auricular, facial and vertebral abnormalities like microtia, hemifacialmicrosomia, cleft palate, dental abnormalities, kyphoscoliosis and tilted optic disc. He underwent radiological imaging and thorough ocular & systemic examination which were suggestive of Goldenhar syndrome. The most common ocular finding of Goldenhar syndrome, also known as oculo-auriculo-vertebral spectrum, is epibulbar dermoid, which was absent in our case, instead there was upper-eyelid coloboma and tilted optic disc. However other facial, auricular and skeletal deformities were in concordance with the spectrum of Goldenhar Syndrome. Goldenhar syndrome consists of a large spectrum of congenital abnormalities and patients might not present with the most diagnostic ocular features. Hence, its diagnosis and treatment requires a multidisciplinary approach.

A Female Case of Goldenhar Syndrome with Mandibular Hypoplasia and Aural Involvement.

Goldenhar syndrome (GS) is a poly-malformation syndrome, also defined as oculo-auricolo-vertebral dysplasia with hemifacial microsomia. It is a rare congenital defect involving first and second branchial arches. The aetiology is not known. The most supported hypothesis is based on the abnormal embryonic vascular supply after mesodermal migration. Autosomal dominant, autosomal recessive and multifactorial modes of inheritance have been reported. We report the case of a female neonate affected by hemifacial microsomia and presence of pre-auricular tragi. Patients were subjected to computed tomography scan and MRI that revealed a mandibular unilateral hypoplasia without association of skeleton, brain and ocular alteration. The purpose of our study was to define the important role of the CT and MRI in the diagnosis of this poly-marformation syndrome.

Nuevas manifestaciones orales del síndrome branquio-óculo-facial: Caso clínico / New oral manifestations of Branchio-oculo-facial syndrome: Case report

El síndrome branquio-óculo-facial es una condición autosómica dominante con expresividad variable y que afecta particularmente las estructuras de la cara y cuello por un desarrollo inadecuado del primero y segundo arco branquial; presenta malformaciones de los ojos y oídos, con características faciales distintivas. Está asociado con alteraciones en el gen TFAP2A. Se presenta una paciente de 9 años con fenotipo de síndrome branquio-óculo-facial y la presencia de dos nuevas manifestaciones orales, la úvula bifida y la lengua con hendidura central parcial, no descritas hasta ahora en esta condición clínica.

The branchio-oculo-facial syndrome is a dominant autosomic condition with variable expressivity that affects particularly the facial and neck structures by an inadequate development of the first and second branchial arch. It is characterized by malformations of eyes and ears, with distinct facial characteristics. It is associated with alterations in TFAP2A gene. We present a patient with 9 years of age with phenotype of the branchio-oculo-facial syndrome and the presence of 2 new oral manifestations, the bifid uvula and the tongue with partial central cleft, not yet described in this clinical condition.

Evaluación de la función vestibular angular: prueba de impulso cefálico multiaxial a ojo desnudo / Angular vestibular function assessment: Multiaxial Head Impulse Test

Introducción: La prueba de impulso cefálico consiste en un examen rápido, sencillo para evaluar la función vestibular angular. Clásicamente se utiliza para el canal horizontal, pero puede implementarse para evaluar los canales semicirculares anteriores y posteriores. Objetivo: Explorar la sensibilidad y especificidad de esta prueba para los canales verticales a ojo desnudo en nuestro medio, en relación a la prueba calórica. Material y método: Estudio prospectivo de evaluación de test diagnóstico. Se realizó prueba de impulso cefálico para todos los canales semicirculares a pacientes con indicación de evaluación funcional de VIII par. Resultados: Se evaluaron 118 pacientes, donde 49,2% presentó una prueba calórica clásica alterada. La sensibilidad del impulso cefálico para el canal posterior fue 13,1(0)% (y 3,2%% para el canal anterior) con una especificidad de 100%% para ambos. Para el canal horizontal la sensibilidad fue de 63,9%% y la especificidad de 100%%. Discusión: La prueba de impulso cefálico para los canales anteriores y posteriores a ojo desnudo es altamente específico, pero muy poco sensible, teniendo una utilidad relativa dentro de la clínica, a diferencia de la misma prueba para el canal horizontal que con la misma especificidad pero con una sensibilidad aceptable representa un examen rápido y de simple ejecución.

Introduction: The Head Impulse Head test represents a quick and simple technique for perioheral vestibular function assessment, by means of exploring the vestíbulo-ocular reflex. It is usually períormed on the horizontal semicircular canals planes, but it can also explore the anterior and posterior canals. Aim: To assess the head impulse test's sensitivity and specificity for the anterior and posterior canals on a bedside scenario, taking the classic caloric test as gold standard. Material and method: Prospective test-assessment study. A head impulse test for every semicircular canal was períormed on patients with indication of vestibular study with caloric test. Results: 118 patients were evaluated, where 49,2%% presente an abnormal caloric test. The head impulse test's sensitivity for the posterior canal canal was 13,1%% (3,2%% for the anterior canal). The test's specificity was 100%% for both vertical canals. On the horizontal plane, sensitivity reached 63,9%%, while specificity was 100%% Discussion: The head impulse test for vertical (anterior and posterior) canal on a bedside scenario is highly specific but poorly sensitive, thus having a relatively low clinical utility. On the contrary the test for the horizontal canal remains a quick and simple tool, with acceptable sensitivy and great sensitivity for assessing vestibular function loss.

Espectro das anormalidades óculo-palpebrais na paralisa supranuclear progressiva (PSP) ao exame à beira-do-leito / The ocular-eyelid spectrum abnormalities in progressive supranuclear palsy (PSP) in the bedside examination

As alterações da motilidade ocular compõem um dos pilares do complexo sintomático da Paralisia Supranuclear Progressiva. Alguns sinais, tanto oculares quanto palpebrais, podem ser facilmente evidenciados ao exame neuro-oftalmológico à beira-do-leito. Neste artigo os autores ressaltam alguns aspectos óculo-palpebrais que auxiliam no diagnóstico desta curiosa e incomum síndrome parkinsoniana tau-positiva.

The alterations of ocular motility make up one of the pillars of the Progressive Supranuclear Palsy symptom complex. Some signs, both ocular and of the eyelids, can easily be shown during a neuro-ophthalmologic bedside examination. In this article the authors highlight some aspects of motor ocular and eyelid alterations to help diagnose this curious and unusual tau-positive parkinsonian syndrome.

Prueba de impulso cefálico / Head impulse test

Introducción: Dentro del estudio de la función del equilibrio, la prueba de impulso cefálico representa una herramienta rápida, sencilla y de fácil interpretación, que explora la indemnidad del reflejo óculo-vestibular. Este examen ha cobrado relevancia reciente como complemento a la prueba calórica en diversos contextos y no ha sido explorado en nuestro país. Objetivo: Explorar sensibilidad y especificidad de esta prueba en nuestro contexto local, junto con contribuir a la difusión de una herramienta de creciente relevancia en otoneurología. Material y método: Estudio prospectivo, ciego, de evaluación de test diagnóstico. En una muestra de pacientes consultando por vértigo agudo se realizó prueba de impulso cefálico al momento de la consulta inicial, y al momento de realizar prueba funcional de VIII par. Resultados: Se evaluaron 52 pacientes, 44 por ciento de ellos con disfunción vestibular según prueba calórica clásica como patrón de oro. La sensibilidad de la prueba de impulso cefálico fue de 47,6 por ciento y su especificidad de 83,9 por ciento, con un valor predictivo positivo y negativo de 66,7 por ciento y 70,3 por ciento. El acuerdo del examen entre dos evaluadores independientes fue alto (Kappa = 0,84). Discusiones: A pesar de una baja sensibilidad por sí sola, la prueba de impulso cuenta con una alta especificidad y un valor predictivo positivo razonable. Es además altamente reproducible, realizable en menos de un minuto y no genera náuseas u otros síntomas en el paciente. Consideramos este examen como un complemento al estudio de la función vestibular, con implicaciones prácticas en el inicio precoz de terapia y con importantes potencialidades en diversos ámbitos de la otoneurología.

Introduction: In balance function evaluation, head impulse test is a fast, simple and easy to interpret test, which explores the vestibulo-ocular reflex. Having gained in the last decade growing importance as a complement to traditional caloric test, this test hasn't been explored in our context yet. Aim: To assess sensitivity and specificity of this test in our context, along with contributing to the spread of an increasingly important tool in otoneurology Material and method: A prospective, blinded, diagnostic test assessment. In a sample of patients consulting for acute vertigo, head impulse test was performed at the time of initial consultation, and at the time of VIII nerve functional testing. Results: We evaluated 52 patients, 44 percent with vestibular dysfunction as shown in caloric test results as gold standard. Sensitivity of the head impulse test was 47.6 percent, its specificity 83.9 percent, with positive and negative predictive value of 66.7 percent and 70.3 percent respectively. Agreement between two independent examiners was high (Kappa = 0.84). Discussion: Despite its low sensitivity, impulse test showed a high specificity and a reasonable positive predictive value. It was also highly reproductible, and generates no nausea or other symptoms in the patient. We consider this test as a complement to vestibular function evaluation, with clinical applicationssupportingearly onset of therapy. We believe this test to withhold significant potential in various otoneurological developing applications.

El reflejo oculo-cardíaco en la cirugía oftalmológica como urgencia médica / The oculocardiac reflex in ophthalmic surgery as a medical emergence

Introducción: Un adecuada conducta anestésica en la cirugía oftalmológica puede contribuir al éxito del procedimiento, por lo que es necesario que los anestesiólogos relacionados con esta rama de la medicina tengan presente el peligro de la aparición del reflejo oculo-cardíaco y sus consecuencias. Objetivo: Identificar la aparición del reflejo oculo-cardíaco en la cirugía oftalmológica del estrabismo y evitar la ocurrencia del paro cardiorrespiratorio. Material y Método: Se realizó un estudio prospectivo, longitudinal, analítico, en el período comprendido entre mayo 2008 y abril 2009, donde se estudiaron 45 pacientes tratados por cirugía de estrabismo en el centro Oftalmológico del Hospital Manuel Ascunce Doménech de Camagüey. Resultados: Se demostró que este reflejo puede aparecer indistintamente del método anestésico empleado (general endotraqueal o peribulbar). En los pacientes estudiados no apareció el reflejo cuando se utilizó como agentes anestésicos las combinaciones ketamina-halothano, ketamina-isoflorano en la anestesia general endotraqueal. La estimulación del reflejo oculo-cardíaco no es más frecuente con la manipulación de un músculo en específico, sino que la fuerza y el tipo de estímulo parecen influir en la incidencia del mismo. El cese del estímulo muscular y la administración de atropina endovenosa fue el tratamiento mas efectivo una vez presente el reflejo. Conclusiones: Es importante que los anestesiólogos conozcan las particularidades que pueden desencadenar el reflejo oculo-cardíaco, evitando un desenlace fatal.

Introduction: An appropriate anesthetic behavior in ophthalmic surgery may to contribute to a successful procedure, thus, it is necessary that anesthesiologists related to this field bear in mind the danger of the oculocardiac reflex appearance and its consequences. Objective: To identify the appearance of the above mentioned reflex in ophthalmic surgery of the squint and to avoid the occurrence of cardiorespiratory arrest. Material and Methods: An analytical, longitudinal and prospective study was conducted between May, 2008 and April, 2009 to study 45 patients operated on due to squint in the Ophthalmology Center of "Manuel Ascunce Domenech" of Camagüey. Results: It was possible to demonstrate that this type of reflex may to appear indiscriminately of anesthetic method used (general, endotracheal or peribulbar). In study patients there was not this type of reflex when a combination of ketamine-halothane as anesthetic agents and ketamine-isoflorane in general endotracheal anesthesia. Oculo-cardiac reflex stimulation isn't more frequent with the management of a specific muscle, but that the strength and the type of stimulus appear to influence in its incidence. Stopping of muscular stimulus and administration of intravenous atropine was the more effectiveness treatment when the reflex was present. Conclusions: It is essential that anesthesiologists know the distinctive features that may to trigger the oculocardiac reflex avoiding a fatal outcome.

Wildervanck syndrome associated with cleft palate and short stature.

We report a case of Wildervanck syndrome exhibiting Klippel-Feil anomaly, Duane retraction syndrome and deafness. Since the first case was reported in 1952, there have been more reports describing this triad, either complete or incomplete. Our patient had the complete triad of the syndrome along with cleft palate and short stature. Also, a review of the literature regarding this syndrome is presented here.

A Case of Oculo-auriculo-vertebral (OAV) Syndrome / 대한피부과학회지

We present a patient with various features of oculo-auriculo-vertebral syndrome (OAVS), also known as Goldenhar's syndrome. In general, multiple accessory tragi in a linear distribution from the preauricular skin to the mandible or to the lateral neck suggest a diagnosis of OAVS. However, in most cases, an accessory tragus is an isolated developmental defect without an associated congenital syndrome. A female infant presented with a solitary, skin colored, sessile papule on the right lower cheek, microtia, and ear deformity since birth. A biopsy specimen showed numerous irregularly spaced hair follicles with a prominent connective tissue framework in the subcutaneous fat, but without central cartilage. Multiple congenital anomalies, including ocular lipodermoid, sensorineural hearing loss, and vertebral deformity, were found on further evaluation.

A Case of Branchio-oculo-facial Syndrome

Branchio-oculo-facial syndrome (BOFS) is a rare, autosomal dominant disorder. It is characterized by distinct craniofacial abnormalities including abnormal location of the ears, aplastic cervical skin lesions, malformed auricles, conductive hearing loss, ocular abnormalities, and cleft lip and palate. Herein, we describe a case of BOFS with persistent aplasia cutis of the neck in a 5-year-old girl.

Importância da reabilitação protética da região óculo-palpebral: relato de caso / Importance of rehabilitation of the prosthetic region óculo-palpebral: case report

As perdas buco-maxilo faciais causam grande constrangimento e sofrimento aos seus portadores, especialmente aquelas passíveis de reabilitação somente através da prótese. Este trabalho relata o caso de um paciente, sexo feminino, leucoderma e com 66 anos de idade, atendido na Clínica de Prótese Buco-Maxilo Facial da Faculdade de Odontologia de Pernambuco da Universidade de Pernambuco (FOP/UPE), portador de uma mutilação na região óculo-palpebral que teve como fator etiológico um câncer da região orbitária, descrevendo-se a técnica e a importância da reabilitação protética facial nos aspectos estéticos e psicossociais.

The maxillofacial losses cause great constraint and sadness especially those with need of rehabilitation only through prosthesis. This work present a case of a patient, feminine, leucoderm and 66 years of age, seeking for treatment at Clinic of Maxillofacial Prosthetic of the Dental School of the University of Pernambuco (FOP/UPE). The patient had a mutilation in the oculo-palpebral region and the etiologic factor was a cancer on the orbital region. This case report aimed also to describe its technique and the importance of the facial prosthetic rehabilitation to aesthetic and psicossociais aspects.

Survey on pathologic and demographic finding of oculo-orbital tumors in Yazd,Iran / 国际眼科杂志(Guoji Yanke Zazhi)

·AIM: To review epidemiological features of 200 cases of ocular and adnexal tumors to determine the demographic and location of tumors in Yazd, Iran from 1997 to 2007.·METHODS: Retrospective, observational case series. We reviewed cases of histopathologically verified oculoorbital tumors at our institution from 1997 to 2007, and studied the distribution of patients age, pathology, origin of tumors, and tumor location in 200 consecutive cases.·RESULTS: Among the 200 cases (111 males, 89 females), 110 (55.0%) were benign tumors, 86 (43.0%) were malignant, and 4 (2.0%) were metastatic tumors. 119 tumors (59.5%) were eyelid tumors, 21 (10.5%) were orbital and 60 (30.0%) were in globe. The most frequent malignant tumors were basal cell carcinoma (BCC) (25.5%), squarnous cell carcinoma (SCC) (6.0%) and melanoma (5.5%). All types of nevus (15.0%), dermoid cyst (5.5%) and hemangioma (5.0%) were the most frequent benign tumors respectively. The age distribution of 200 patients was divided into two groups, under 18 years old and over 18 years old. In age group of less than 18 years old patients, the most common tumors were benign (90.1%) malignant and metastatic tumors were 8.4% and 1.5% respectively. While, in patients over 18 years old, the common tumors were malignant (51.1%), benign tumors were 47. 1% and metastatic tumors were 1.8%.·CONCLUSION: The pathologic profiles of orbital tumors were characterized ccording to patient's age and the location of the tumor in the globe and adnexa. The age of onset and tumor location provide us with important information for prognosis prior to biopsy or tumor re-section and to determine the treatment strategy.