Función pulmonar: escoliosis y evaluación de la función respiratoria / Scoliosis and assessment of respiratory function

La escoliosis es una enfermedad frecuente, de evolución variable según su etiología y edad de presentación. El diagnóstico y tratamiento oportuno permiten evitar el compromiso respiratorio, que es su principal complicación. La mayoría de los casos corresponden a escoliosis leves e idiopáticas, pero los casos severos, no idiopáticos o aquellos que presentan síntomas respiratorios, requieren de una evaluación oportuna por el equipo de enfermedades respiratorias. El objetivo de este trabajo es describir las alteraciones de la función pulmonar que se encuentran en niños con escoliosis y dar una orientación acerca de la evaluación y derivación de estos pacientes al neumólogo infantil. Con una evaluación oportuna se pueden iniciar planes de rehabilitación u otras intervenciones que permitan disminuir la morbimortalidad asociada a esta patología.

Scoliosis is a common disease with a variable evolution depending on its etiology and age of presentation. Timely diagnosis and treatment make it possible to avoid respiratory compromise, which is its main complication. Most cases correspond to mild and idiopathic scoliosis, but severe, non-idiopathic cases or those with respiratory symptoms require timely evaluation by the respiratory team. The objective of this work is to describe the pulmonary function alterations found in children with scoliosis and to provide guidance on the evaluation and referral of these patients to the pediatric pulmonologist. With a timely evaluation, rehabilitation plans or other interventions can be initiated to reduce the morbidity and mortality associated with this pathology.

Cuantificación de cambios en la morfología externa de la espalda mediante topografía de superficie basada en luz estructurada en la escoliosis idiopática del adolescente tras un año de tratamiento con corsé ortopédico / Quantification of changes in the external morphology of the back by means of surface topography based on structured light in idiopathic scoliosis in adolescents after a year of treatment with orthopedic corse

Resumen: Antecedentes: Cuantificar los cambios morfológicos producidos en la superficie de la espalda de adolescentes con escoliosis idiopática como resultado del tratamiento mediante corsé y correlacionarlos con las variaciones radiográficas. Material y métodos: Estudio analítico, de cohortes, prospectivo, sobre una muestra de 31 adolescentes con escoliosis idiopática divididos en dos grupos: 11 con tratamiento mediante corsé y 20 sin corsé. Se realizó una cuantificación de la deformidad en dos ocasiones separadas entre sí por un intervalo de un año mediante tres sistemas: 1) ángulo de rotación del tronco (escoliómetro); 2) topografía de superficie; 3) radiografía simple de raquis completo. Resultados: No se detectaron diferencias estadísticamente significativas entre la valoración inicial y final de las variables topográficas y radiográficas en el grupo con corsé. En el grupo no tratado, sólo hubo diferencias significativas para las medidas del escoliómetro. Se encontró una correlación positiva entre la diferencia del ángulo de Cobb de la curva principal con la de dos variables topográficas que cuantifican la asimetría en el plano axial y en el coronal, respectivamente. Discusión: En el seguimiento de pacientes con escoliosis tratados con corsé, se deben tener en cuenta y valorar no sólo parámetros radiográficos como el ángulo de Cobb, sino también parámetros clínicos y topográficos que cuantifiquen la deformidad externa de la espalda, ya que existe una discrepancia clínico-radiográfica demostrada de manera amplia en la literatura. La mejoría de la forma externa de la espalda es un factor muy importante para el paciente y es lo que va a percibir fundamentalmente, lo que puede influir en una mejor cumplimentación del tratamiento ortopédico. En nuestro estudio, la curva escoliótica, así como la deformidad externa de la espalda, se mantuvo estable en el período de seguimiento tanto en los pacientes tratados con corsé como en los no tratados.

Abstract: Background: To quantify the morphological changes in the surface of the back of adolescents with idiopathic scoliosis as a result of treatment with braces and to correlate them with radiographic changes. Material and methods: An analytical, cohort, prospective study on a sample of 31 adolescents with idiopathic scoliosis. We divided them into two groups: eleven treated with braces and twenty without them. Quantification of the deformity was performed on two separate occasions with an interval of one year using three systems: 1) angle of trunk rotation (scoliometer); 2) surface topography; 3) full spine X-rays. Results: No statistically significant differences were detected between the initial and final assessment of the topographic and radiographic variables in the group with braces. In the untreated group, only in measures with the scoliometer significant differences were registered. A positive correlation was found between the Cobb angle difference of the main curve with two topographic variables that quantify the asymmetry in the axial and coronal plane, respectively. Discussion: In following patients with scoliosis treated with braces, we should consider and evaluate not only radiographic parameters such as the Cobb angle, but also clinical and topographic parameters that quantify the external deformity of the back, as there is a clinical-radiographic discrepancy amply demonstrated in the literature. The improvement of the external shape of the back is a very important factor for the patient, and can influence a better completion of the orthopedic treatment. In our study, the scoliotic curve and external deformity of the back remained stable during the follow-up period in both treated and untreated patients.

Muscle disorders in adolescent idiopathic scoliosis: literature review / Distúrbios musculares na escoliose idiopática do adolescente: revisão da literatura / Anormalidades musculares en la escoliosis idiopática del adolescente: revisión de la literatura

ABSTRACT Scoliosis is characterized by three-dimensional changes of the spine and is estimated to be present in 4% of the population worldwide. The most common form is the adolescent idiopathic. The purpose of this study is to identify the major muscle abnormalities found in patients with adolescent idiopathic scoliosis through a literature review. We conducted an electronic search of the national databases PubMed, Lilacs, PEDro, and EMBASE using the keywords "scoliosis", "biomechanics", "exercise", "physical therapy specialty", "idiopathic", and "muscles", from January 2003 to April 2015. The most relevant articles in English, Portuguese and Spanish were selected by title and abstract. It was also performed a manual search of the references of the selected articles. From a total of 4,319 articles, 11 were selected. We conclude that individuals with AIS have changes in the paraspinal muscles, with a difference in activation between the concave and convex sides, suggesting an increase in EMG activity on the convex side, although there is still no consensus among the authors.

RESUMO A escoliose é caracterizada por alterações tridimensionais da coluna vertebral e estima-se estar presente em torno de 4% da população mundial. A forma mais comum é a idiopática do adolescente. O objetivo deste estudo é identificar as principais alterações musculares encontradas nos pacientes com escoliose idiopática do adolescente por meio de uma revisão da literatura. Foi realizada a busca eletrônica nas bases de dados nacionais PubMed, Lilacs, PEDro e EMBASE usando as palavras-chave "escoliose", "biomecânica", "exercício", "fisioterapia", "idiopática" e "músculo", de janeiro de 2003 a abril de 2015. Os artigos mais relevantes em português, inglês e espanhol foram selecionados pelo título e pelo resumo. Também foi realizada busca manual nas referências dos artigos selecionados. Do total de 4.319 artigos, 11 foram selecionados. Concluímos que os indivíduos com EIA têm alterações nos músculos paravertebrais, com diferença de ativação entre os lados, côncavo e convexo, o que sugere um aumento na atividade EMG no lado convexo, embora ainda não haja consenso entre os autores.

RESUMEN La escoliosis se caracteriza por cambios tridimensionales de la columna vertebral y se estima que esté presente en el 4% de la población mundial. La forma más común es la idiopática del adolescente. El objetivo de este estudio es identificar las principales anomalías musculares que se encuentran en los pacientes con escoliosis idiopática del adolescente a través de una revisión de la literatura. Se realizó una búsqueda electrónica de las bases de datos nacionales PubMed, Lilacs, PEDro y EMBASE utilizando los descriptores "escoliosis", "biomecánica", "ejercicios", "fisioterapia", "idiopática" y "músculo" desde enero 2003 a abril de 2015. Fueron seleccionados los artículos más relevantes en portugués, inglés y español por el título y el resumen. También se realizó una búsqueda manual de las referencias de los artículos seleccionados. Del total de 4.319 artículos, se seleccionaron 11. Llegamos a la conclusión que los individuos con EIA presentan cambios en los músculos paravertebrales, con una diferencia de activación entre los lados cóncavo y convexo, lo que sugiere un aumento de la actividad EMG en el lado convexo, aunque todavía no exista consenso entre los autores.

The Importance of Proximal Fusion Level Selection for Outcomes of Multi-Level Lumbar Posterolateral Fusion

BACKGROUND: There are few studies about risk factors for poor outcomes from multi-level lumbar posterolateral fusion limited to three or four level lumbar posterolateral fusions. The purpose of this study was to analyze the outcomes of multi-level lumbar posterolateral fusion and to search for possible risk factors for poor surgical outcomes. METHODS: We retrospectively analyzed 37 consecutive patients who underwent multi-level lumbar or lumbosacral posterolateral fusion with posterior instrumentation. The outcomes were deemed either 'good' or 'bad' based on clinical and radiological results. Many demographic and radiological factors were analyzed to examine potential risk factors for poor outcomes. Student t-test, Fisher exact test, and the chi-square test were used based on the nature of the variables. Multiple logistic regression analysis was used to exclude confounding factors. RESULTS: Twenty cases showed a good outcome (group A, 54.1%) and 17 cases showed a bad outcome (group B, 45.9%). The overall fusion rate was 70.3%. The revision procedures (group A: 1/20, 5.0%; group B: 4/17, 23.5%), proximal fusion to L2 (group A: 5/20, 25.0%; group B: 10/17, 58.8%), and severity of stenosis (group A: 12/19, 63.3%; group B: 3/11, 27.3%) were adopted as possible related factors to the outcome in univariate analysis. Multiple logistic regression analysis revealed that only the proximal fusion level (superior instrumented vertebra, SIV) was a significant risk factor. The cases in which SIV was L2 showed inferior outcomes than those in which SIV was L3. The odds ratio was 6.562 (95% confidence interval, 1.259 to 34.203). CONCLUSIONS: The overall outcome of multi-level lumbar or lumbosacral posterolateral fusion was not as high as we had hoped it would be. Whether the SIV was L2 or L3 was the only significant risk factor identified for poor outcomes in multi-level lumbar or lumbosacral posterolateral fusion in the current study. Thus, the authors recommend that proximal fusion levels be carefully determined when multi-level lumbar fusions are considered.

Síndrome de insuficiencia torácica debido a escoliosis congénita y fusiones costales tratado mediante toracoplastía de expansión, combinada con sistema de distracción sucesiva / Thoracic insufficiency syndrome due to congenital scoliosis and fused rib treated with expansion thoracoplasty in combination with growing rods

Introducción. Las escoliosis congénitas asociadas a fusiones costales pueden causar disminución de crecimiento en el tórax y un efecto adverso sobre el desarrollo y función pulmonar. Esta condición se conoce como Síndrome de Insuficiencia Torácica (SIT). Objetivo. Reportar nuestra experiencia en tratamiento de pacientes con síndrome de insuficiencia torácica debido a escoliosis congénita y fusiones costales, tratados con toracoplastia de expansión combinada con distracciones sucesivas (V.E.P.T.R. - Vertical Expandable Prosthetic Titanium Rib). Material y Método. Evaluación retrospectiva clínica y radiográfica de 9 pacientes. Resultados. Se evaluaron 9 pacientes. Seguimiento promedio 2.1 años. Edad promedio de primera intervención 2.5 años. Valor angular pre-operatorio promedio 71.3 grados y descompensación del tronco 3.4 cm. El promedio de corrección de la escoliosis durante el último control fue de 37.4%, para la descompensación del tronco de 51.7% y la relación de longitud, entre los hemi-tórax, mejoró 24.6%. Se registraron 2.7 complicaciones por paciente. Conclusión. La toracoplastía de expansión, combinada con distracciones sucesivas es una buena alternativa para tratar el síndrome insuficiencia torácica debido a escoliosis congénita y fusiones costales. Las complicaciones son frecuentes y condicionan el tratamiento. El VEPTR requiere modificaciones de diseño.

Doença de Von Recklinghausen: relato de caso / Von Recklinghausen's disease: case report

JUSTIFICATIVA E OBJETIVOS: A doença de Von Recklinghausen, também conhecida como neurofibromatose, é uma doença multissistêmica com características bem estabelecidas.Algumas manifestações são progressivas e resultam em considerável morbidade e mortalidade. Apresenta grande impacto na qualidade de vida, tanto do ponto de vista clínico como no aspecto estético, constituindo uma verdadeira agressão à autoimagem e à autoestima. Assim torna-se imperioso, relatar manifestações clínicas, critérios de diagnóstico, manuseio e acompanhamento dos pacientes com essa doença, devido à necessidade de diagnóstico precoce das complicações mais comuns em cada faixa etária, e conduta adequada no sentido de minimizá-las ou eliminá-las.RELATO DO CASO: Paciente do sexo feminino, 50 anos,procurou atendimento médico na unidade básica de saúde com queixa principal de caroços espalhados por todo o corpo,que aumentavam de tamanho com o tempo, acompanhado de manchas no tórax e nos membros, associadas à sardas em axila esquerda. Apresentava dor na linha mediana torácica e cefaleia do tipo enxaquequosa, quase que diariamente. Paciente sabidamente hipertensa, com história de catarata e miopia.CONCLUSÃO : Atualmente não há cura, sendo seu tratamento a ressecção cirúrgica das lesões que comprometem a funçãoe/ou a estética do paciente. A psicoterapia e o acompanhamento social são válidos para restaurar e reconstruir o equilíbrio emocional dos pacientes. O encaminhamento do paciente às demais especialidades médicas é de extrema valia para identificar possíveis complicações e realizar tanto o aconselhamento genético quanto o monitoramento da progressão da doença.

BACKGROUND AND OBJECTIVES: Von Recklinghausen's disease, also known as neurofibromatosis, is a multisystem disease with features well established. Some manifestations are progressive and result in considerable morbidity and mortality. This has great impact on quality of life, both in terms of clinical and aesthetic aspects, constituting a veritable assault on the self-image and self esteem. Thus it becomes imperative, to report clinical manifestations, diagnostic criteria, management and monitoring of patients with this disease, due to the need for early diagnosis of common complications in each age group, and appropriate action to minimize or eliminate them.CASE REPORT: Female patient, 50 years-old, sought medical care at primary care unit with a chief complaint of pits scattered throughout the body, which increased in size over time, accompanied by spots on the chest and limbs, associated freckles in the armpit. She had chest pain in the midline and migraine type headache almost daily. Known hypertensive patient with a history of cataract and myopia.CONCLUSION: Currently there is no cure, its treatment is surgical resection of lesions that compromise the function and / or the aesthetics of the patient. Psychotherapy and social support are valid to restore and rebuild the emotional balance of the patients. The referral of patients to other medical specialties is extremely important to identify potential complications and perform both genetic counseling and monitoring of disease progression.

Synergistic convergence and split pons in horizontal gaze palsy and progressive scoliosis in two sisters.

Synergistic convergence is an ocular motor anomaly where on attempted abduction or on attempted horizontal gaze, both the eyes converge. It has been related to peripheral causes such as congenital fibrosis of extraocular muscles (CFEOM), congenital cranial dysinnervation syndrome, ocular misinnervation or rarely central causes like horizontal gaze palsy with progressive scoliosis, brain stem dysplasia. We hereby report the occurrence of synergistic convergence in two sisters. Both of them also had kyphoscoliosis. Magnetic resonance imaging (MRI) brain and spine in both the patients showed signs of brain stem dysplasia (split pons sign) differing in degree (younger sister had more marked changes).

Changes in Level of the Conus after Corrective Surgery for Scoliosis: MRI-Based Preliminary Study in 31 Patients

BACKGROUND: Detection of postoperative spinal cord level change can provide basic information about the spinal cord status, and electrophysiological studies regarding this point should be conducted in the future. METHODS: To determine the changes in the spinal cord level postoperatively and the possible associated factors, we prospectively studied 31 patients with scoliosis. All the patients underwent correction and posterior fusion using pedicle screws and rods between January 2008 and March 2009. The pre- and postoperative conus medullaris levels were determined by matching the axial magnetic resonance image to the sagittal scout image. The patients were divided according to the change in the postoperative conus medullaris level. The change group was defined as the patients who showed a change of more than one divided section in the vertebral column postoperatively, and the parameters of the change and non-change groups were compared. RESULTS: The mean pre- and postoperative Cobb's angle of the coronal curve was 76.80degrees +/- 17.19degrees and 33.23degrees +/- 14.39degrees, respectively. Eleven of 31 patients showed a lower conus medullaris level postoperatively. There were no differences in the pre- and postoperative magnitude of the coronal curve, lordosis and kyphosis between the groups. However, the postoperative degrees of correction of the coronal curve and lumbar lordosis were higher in the change group. There were also differences in the disease entities between the groups. A higher percentage of patients with Duchene muscular dystrophy had a change in level compared to that of the patients with cerebral palsy (83.3% vs. 45.5%, respectively). CONCLUSIONS: The conus medullaris level changed postoperatively in the patients with severe scoliosis. Overall, the postoperative degree of correction of the coronal curve was higher in the change group than that in the non-change group. The degrees of correction of the coronal curve and lumbar lordosis were related to the spinal cord level change after scoliosis correction.

Recomendaciones para la evaluación quirúrgica de la escoliosis en niños con enfermedad neuromuscular / Surgical evaluation of scoliosis in children with neuromuscular disease

El compromiso respiratorio de los pacientes con enfermedad neuromuscular (ENM) incide en la historia natural de la enfermedad y en la calidad de vida del niño y su familia. La falla respiratoria es responsable de un número significativo de muertes prevenibles con una intervención precoz. Frecuentemente estos pacientes tienen escoliosis, que al progresar sin un tratamiento quirúrgico oportuno, aumenta la morbimortalidad por causa respiratoria, aumenta el compromiso cardiovascular e impide lograr posicionamiento sin dolor al perder la marcha y bipedoestación. En este artículo se abordan recomendaciones para la evaluación quirúrgica en niños con ENM, haciendo especial consideración de aspectos respiratorios, como la evaluación funcional y los coadyuvantes terapéuticos perioperatorios incluyendo la asistencia ventilatoria no invasiva y el entrenamiento respiratorio.

Further diffusion tensor imaging contribution in horizontal gaze palsy and progressive scoliosis / Contribuição adicional das imagens por tensores de difusão em paralisia do olhar conjugado horizontal associada a escoliose progressiva

In two siblings with clinical diagnosis of horizontal gaze palsy associated with progressive scoliosis (HGPPS) we could demonstrate by diffusion tensor imaging: (1) An anterior displacement of the transverse pontine fibers; (2) Posterior clumping of the corticospinal, medial lemniscus and central tegmental tracts and of the medial and dorsal longitudinal fasciculi complex; (3) Absent decussation of superior cerebellar peduncle. Those findings can contribute as surrogate markers for the diagnosis.

Em dois irmãos com diagnóstico clínico de paralisia do olhar conjugado horizontal associada a escoliose progressiva, foi possível determinar através de imagens por tensores de difusão: (1) Deslocamento anterior das fibras pontinas transversas; (2) Agrupamento posterior do trato córtico-espinhal, lemnisco medial e trato tegmentar central e complexos dos fascículos longitudinais medial e dorsal; (3) Ausência da decussação dos pedúnculos cerebelares superiores. Tais achados podem contribuir como marcadores para o diagnóstico.

An incomplete form of lumbocostovertebral syndrome in association with atrial septal defect, arthrogryposis and clubfeet.

The present study describes a 9-month-old infant who presented with congenital lumbar hernia, kyphoscoliosis, atrial septal defect, congenital talipes equinovarus and arthrogryposis. To the best of our knowledge, this is the first case in English literature with this combination of defects. The case could be considered an incomplete form of the lumbocostovertebral syndrome. We also discuss the etiopathogenesis of these malformations.

Von-Recklinghausen's disease and spine canal ectasis: An exceptional complication and a new therapeutic approach

Von-Recklinghausen's disease or neurofibromatosis type 1 [NF1] is a hereditary disorder in which the genetic transmission is autosomic dominant and supported by the chromosome 17. Scoliosis is a classical complication of this disease. Spinal canal ectasis, at the extremities of the arthrodesis, is a rare complication of scoliosis occurring in the context of NF1 and there is no clear treatment described in the literature. We report 3 observations of patients who were admitted for the complex association of NF1 and spinal canal ectasis occurring after the surgical treatment of scoliosis and discuss our concept of treating the spinal ectasis which weakened the fusion of arthrodesis. These 3 cases of NF1 in males whose mean age was 22-years-old [19, 23, 24 years-old] were operated at the age of 8, 9 and 14 years-old respectively for severe thoraco-lumbar scoliosis. At the initial surgical management, the spine canal diameter was within normal range. They underwent a two-stage surgery with anterior and posterior spinal arthrodesis. The abnormal spinal canal dilatation [spinal ectasis] appeared during the follow-up and was revealed by back pain of the lumbar and thoracic spine. Magnetic resonance imaging and computed tomography scan concluded a posterior body vertebral destruction with clear enlargement of the subdural space, mainly located at the extremity of the arthrodesis, which was directly at risk. It was hypothesized an abnormal hyperpression of the cerebrospinal fluid [CSF]. Magnetic resonance imaging of the whole spine and the brain did not show any spinal cord anomaly, Chiari's malformation or hydrocephalus. We decided to mearure the CSF pressure via lumbar puncture. It was abnormal in all 3 cases [18 - 21 mm Hg], as was the biochemical analysis of the CSF. All 3 patients underwent surgery with a lumbo-peritoneal programmeable shunt [Sophysa shunt]. The prostoperative follow-up [9months to 3 years] was good without recurrence of pain and no cerebral hypotension symptoms. Vertebral bone destruction was seen to be halted on control MRI or CT scan. The CFS hyperpression theory must be studied more carefully so as to understand the intrinsic mechanisms in this particular clinical context by a prospective larger series with monitoring of the CSF pressure before lumbo-periotoneal shunting and a longer postoperative course to confirm the validity of this therapeutic approach

Influence of spinal deformity on pulmonary function, arterial blood gas values, and exercise capacity in thoracic kyphoscoliosis

To evaluate the influence of thoracic spine curvature on lung parameters in kyphoscoliosis. Twenty-one patients with kyphoscoliosis were evaluated at the Vallabhbhai Patel Chest Institute, Delhi, India from January to June 2006 using spirometry, arterial blood gas [ABG], and 6-minute walk test. The degree of spinal deformity was measured by Cobb's method for angle of scoliosis and angle of kyphosis. There were 13 males and 8 females [mean age 47.38 +/- 20.10 years]. Decreased lung volumes, hypoxemia, arterial oxygen desaturation, and decreased exercise capacity was observed in patients with kyphoscoliosis. The angle of scoliosis ranged from 60-126° [78.1 +/- 18.3] and angle of kyphosis ranged from 5-48° [18.05 +/- 10.5]. The forced vital capacity [FVC] was 1.92 +/- 0.8 L [0.66-3.44], and the forced expiratory volume in one second [FEV1] was 1.51 +/- 0.5 L [0.6-2.6]. The FEV1/FVC was 60.9 +/- 12.9 [42-86%]. The partial arterial oxygen tension was 51.7 +/- 6.9 Hg. The partial pressure of carbon dioxide in arterial blood was 49.85 +/- 7.9 mm Hg. The functional oxygen saturation was 84 +/- 3.7%. No correlation was found between pulmonary function test [PFT] or ABG values with the degree of spinal deformity. Mean oxygen desaturation [87.48-84.43%] and rise in systolic blood pressure [118.48-126.67 mm Hg] during walk test correlated well with degree of spinal deformity. The severity of pulmonary impairment could not be inferred from the angle of scoliosis alone. The 6-minute walk test gives an early indication of limitations and correlates well with structural deformity. The PFT and ABG parameters do not correlate well with the severity of deformity. Thus, the 6-minute walk test must be included in the thorough evaluation of all patients with kyphoscoliosis

High frequencies of plexiform neurofibromas, mental retardation, learning difficulties, and scoliosis in Brazilian patients with neurofibromatosis type 1

A clinical study of Brazilian patients with neurofibromatosis type 1 (NF1) was performed in a multidisciplinary Neurofibromatosis Program called CEPAN (Center of Research and Service in Neurofibromatosis). Among 55 patients (60 percent females, 40 percent males) who met the NIH criteria for the diagnosis of NF1, 98 percent had more than six café-au-lait patches, 94.5 percent had axillary freckling, 45 percent had inguinal freckling, and 87.5 percent had Lisch nodules. Cutaneous neurofibromas were observed in 96 percent, and 40 percent presented plexiform neurofibromas. A positive family history of NF1 was found in 60 percent, and mental retardation occurred in 35 percent. Some degree of scoliosis was noted in 49 percent, 51 percent had macrocephaly, 40 percent had short stature, 76 percent had learning difficulties, and 2 percent had optic gliomas. Unexpectedly high frequencies of plexiform neurofibromas, mental retardation, learning difficulties, and scoliosis were observed, probably reflecting the detailed clinical analysis methods adopted by the Neurofibromatosis Program. These same patients were screened for mutations in the GAP-related domain/GRD (exons 20-27a) by single-strand conformation polymorphism. Four different mutations (Q1189X, 3525-3526delAA, E1356G, c.4111-1G>A) and four polymorphisms (c.3315-27G>A, V1146I, V1317A, c.4514+11C>G) were identified. These data were recently published.

Goldenhar's Syndrome (Oculo-Auriculo-Vertebral Dysplasia) with Congenital Facial Nerve Palsy

Goldenhar's Syndrome (oculo-auriculo-vertebral dysplasia) is a wide spectrum of congenital anomalies that involves structures arising from the first and second branchial arches. In this report, a case of a male infant, with the features of hemi facial microsomia, anotia, vertebral anomalies, congenital facial nerve palsy and lagophthalmos is described. Although the syndrome itself is not uncommon, the presence of congenital facial nerve palsy, which has been reported in rare cases, prompted this case report.