Long-term results of strabismus surgery for treatment of esotropia in patients with Möbius syndrome.

PURPOSE: To evaluate the surgical results of Möbius syndrome esotropia following bilateral medial rectus recession with and without bilateral Hummelsheim procedure. METHODS: The medical records of patients with Möbius syndrome operated on by a single surgeon from 1993 to 2022 were studied retrospectively. For each patient, age, sex, and ocular deviation before and after surgery were retrieved. Success was defined as a horizontal deviation of up to 15Δ and vertical deviation of <10Δ. RESULTS: Eleven patients were included. Average patient age at the time of surgery was 4 years. Eight patients with esodeviation up to 70Δ underwent bilateral medial rectus recession; 3 patients with esotropia >70Δ underwent recession plus bilateral Hummelsheim procedure. The mean esodeviation before surgery was 52.5Δ in the first group and 86.6Δ in the second group. The mean horizontal deviation at early follow-up was esotropia of 7.4Δ in the first group and of 15Δ in the second group. The early success rate was 87% in the first group and 67% in the second group. Long-term follow-up revealed exoshift in 43% of the patients in the first group and all 3 patients in the second group. CONCLUSIONS: In our small patient cohort of patients with Möbius syndrome, bilateral medial rectus recession corrected esodeviations of up to 70Δ. In more severe cases (>70Δ), adding bilateral Hummelsheim procedure was beneficial.

Impact of Adding Augmented Superior Rectus Transpositions to Medial Rectus Muscle Recessions When Treating Esotropic Moebius Syndrome.

PURPOSE: To describe outcomes after treatment of Moebius syndrome (MBS) esotropia by adjustable bilateral medial rectus recession (BMR) with and without augmented superior rectus transposition (SRT). DESIGN: Retrospective case series. METHODS: Patients meeting 2014 diagnostic criteria for MBS and treated at Boston Children's Hospital between 2003 and 2019 were identified via billing records and chart review. Visual acuity, sensorimotor evaluations, strabismus procedures, and other clinical features were recorded. Surgical outcomes for patients treated with strabismus surgery (excluding those with prior surgery elsewhere) were evaluated. The primary outcome measure was postoperative alignment comparing treatment by adjustable BMR vs adjustable BMR+SRT. RESULTS: A total of 20 patients had MBS, and 12 of these (60%) were male. Fifteen patients (75%) had primary position esotropia, and all had bilateral abduction deficit. Eight of 20 patients met inclusion criteria for primary strabismus surgery outcome. Five had undergone adjustable BMR ranging from 4.5 to 6.5 mm. Three had undergone adjustable BMR+SRT, all with 4-mm medial rectus muscle recessions. Mean preoperative esotropia before treatment by BMR was 39.5 PD (± 15 PD) with mean postoperative esotropia 9 PD (± 7.9 PD) at 6 months. Mean preoperative esotropia before treatment by BMR+SRT was 70.8 PD (± 5.9 PD) with mean postoperative esotropia 2.5 PD (± 3.5 PD) at 6 months. Significantly greater reduction in esotropia resulted from BMR+SRT than from BMR (P = .036). CONCLUSIONS: BMR proved sufficient to treat esotropia <50 PD and BMR+SRT for greater esotropia in patients with MBS-associated abduction limitation.

Prevalence of Hand Malformations in Patients With Moebius Syndrome and Their Management.

BACKGROUND: Moebius syndrome is a disorder characterized by facial and abducens nerve paralysis. Patients can present a wide range of upper extremity malformations. Literature focused on orthopedic manifestations of Moebius syndrome shows variability in the prevalence and clinical presentation of upper extremity anomalies. The aim of this work is to evaluate the prevalence of upper extremity malformations in patients with Moebius syndrome, clarify its various clinical presentations, and present treatment strategies for their management. METHODS: This is a retrospective, cross-sectional study including patients with Moebius syndrome and upper extremity malformations between 2012 and 2019. Data include demographic characteristics, Moebius syndrome subtype, type of malformation, affected extremity, and surgical procedures underwent. Quantitative data were recorded as mean (standard deviation [SD]), and qualitative data were expressed in terms of totals and percentages. Statistical association between Moebius syndrome subtype and development of upper extremity anomalies was evaluated using binary logistic regression. RESULTS: Twenty-five out of 153 patients (16.3%) presented upper extremity malformations (48% male). Mean age of presentation was 9.08 ± 9.43 years. Sixty-eight percent of the malformations were unilateral. The most common presentations included Poland syndrome and simple syndactyly with 8 cases each (32%), followed by 5 cases of brachysyndactyly (20%), 3 cases of amniotic band syndrome (12%), and 1 case of cleft hand (4%). No statistical association was found between Moebius syndrome subtype and odds ratio for development of upper extremity anomalies. Thirteen patients (52%) underwent reconstructive procedures. CONCLUSION: Poland syndrome and syndactyly are the most common anomalies in patients with Moebius syndrome. Patients may present with a wide range of hand malformations, each patient should be carefully evaluated in order to determine whether surgical treatment is needed and to optimize rehabilitation protocols.

Transfer of the deep temporal nerve for eyelid reconstruction in Mobius syndrome - an anatomic feasibility study and proposed surgical approach.

Facial paralysis may result in significant functional, esthetic, and psychological morbidity. Mobius syndrome is a form of bilateral congenital facial paralysis that is particularly difficult to treat owing to the lack of readily available donor nerves, particularly in the upper face. In this study, we evaluate the feasibility of using the deep temporal nerves as donors for the innervation of free muscle grafts in the periorbital region. Preserved and fresh cadaver facial halves are dissected, and the course of the deep temporal nerves delineated. We find the middle branch of the deep temporal nerve to be located consistently 4.6 cm from the posterior edge of the tragus along the zygomatic arch, giving an easily identifiable surface landmark for our donor. Finally, we outline a proposed surgical approach for using the middle deep temporal nerve to innervate a free muscle graft to the eyelids through an interpositional nerve graft.

Long-term results of facial animation surgery in patients with Moebius syndrome.

Gracilis neuromuscular transplant is considered the gold standard for facial animation in Moebius syndrome patients. However, long-term evaluation of the results has not been critically examined in the international literature. Thus, it remains unknown how the transplanted flap changes with facial growth, and whether contraction (smiling) is maintained. Pediatric patients with Moebius syndrome who underwent facial animation surgery with at least 5 years of follow-up were retrospectively examined. Photographs taken at the 1-year and most recent follow-up visits were analyzed and compared using Emotrics software. Analyses focused on the rest position, and on gentle and maximum smiles. Eighteen patients were enrolled. Seven patients had bilateral and 11 unilateral Moebius syndrome; therefore, 25 gracilis transplants were analyzed. The latest follow-ups ranged from 5 to 13.2 years (mean 7.6 years). The three principal facial expressions that were examined did not differ significantly between 1 year and a mean of 7.6 years after surgery, but tended to improve in most patients. Commissure excursion and smile angle for the maximum smile did improve significantly (p = 0.002 and 0.029, respectively). The series examined in this study supports the limited literature regarding the long-term stability of gracilis transplantation to animate the faces of Moebius syndrome children.

Electromyographic evaluation of the facial and motor donor nerves before facial reanimation surgery in Moebius syndrome.

BACKGROUND: Moebius syndrome is a clinical entity characterized by bilateral facial and abducens nerve palsies; other cranial nerver might be affected as well. So far, no studies have reported the electromyographic responses of the facial musculature in this group of patients. OBJECTIVE: The objective of our study is to describe the electromyographic responses of the facial muscle and the main donor nerves for facial reanimation in patients with Moebius syndrome. METHOD: We analyzed electromyographies from the facial, hypoglossal, masseterine (trigeminal) and accessory nerves from patients with Moebius syndrome treated between 2010 and 2016. Results are presented as percentages and central tendency measures. RESULTS: 24 patients were included, mean age 11.79 ± 9.39 years. The facial nerve showed complete unilateral recruitment in 4 patients, partial bilaterally in 11, 7 showed no activity bilaterally and two had unilateral inactivity. The masseterine was normal in 14 patients, had partial recruitment bilaterally in 4 and unilaterally in 4 cases. The accessory nerve was normal in 20 patients, showed partial recruitment bilaterally in 3 and unilaterally in 1 patients. The hypoglossal was normal in 22 patients, and altered in 2 cases. CONCLUSION: Patients with Moebius syndrome show several degrees of alteration in electromyographic evaluation of the facial nerve. Electromyography is a useful tool in evaluating potential motor donor nerves for facial reanimation surgery.

ANTECEDENTES: El síndrome de Moebius es una entidad clínica caracterizada por parálisis bilateral congénita del nervio facial y el abducens. Adicionalmente se pueden encontrar afectados otros pares craneales. Actualmente no existen estudios que reporten la respuesta electromiográfica de la musculatura facial en esta población. OBJETIVO: Describir la respuesta electromiográfica de la musculatura facial y de los principales nervios donadores para reconstrucción facial dinámica en pacientes con síndrome de Moebius. MÉTODO: Se analizaron electromiografías de los nervios facial, hipogloso, maseterino (trigémino) y accesorio en pacientes con síndrome de Moebius atendidos entre 2010 y 2016. Los resultados se presentan en porcentajes y medidas de tendencia central y de dispersión. RESULTADOS: Se incluyeron 24 pacientes, con una edad promedio de 11.79 ± 9.39 años. El nervio facial presentó reclutamiento unilateral completo en 4 pacientes, parcial bilateral en 11 pacientes, en 7 pacientes ausencia de reclutamiento bilateral e inactividad unilateral en 2 pacientes. El maseterino tuvo reclutamiento completo en 14 pacientes, parcial bilateral en 4 pacientes y parcial unilateral en 4 pacientes. El nervio accesorio mostró reclutamiento completo en 20 pacientes, parcial bilateral en 3 pacientes y parcial unilateral en 1 paciente. El hipogloso mostró actividad normal en 22 pacientes, parcial bilateral en 1 paciente y parcial unilateral en 1 paciente. CONCLUSIÓN: Los pacientes con síndrome de Moebius presentan alteraciones en los registros electromiográficos del nervio facial. La electromiografía permite identificar los nervios donadores para realizar la reconstrucción dinámica.

Segmental Gracilis Muscle Transplantation for Midfacial Animation in Möbius Syndrome: A 29-Year Experience.

BACKGROUND: Möbius syndrome is a complex congenital disorder of unclear cause involving multiple cranial nerves and typically presenting with bilateral facial and abducens nerves palsies. At The Hospital for Sick Children, Toronto, Ontario, Canada, microneurovascular transfer of free-muscle transplant is the procedure of choice for midfacial animation. The primary aim of this study was to investigate surgical outcomes of the procedure in terms of complications, secondary revisions, and smile excursion gains. METHODS: A retrospective 29-year review was performed using patient records from a single tertiary care center. The authors included children with Möbius syndrome who had undergone facial animation surgery with a free segmental gracilis muscle transfer and microneurovascular repair between January 1, 1985, and August 31, 2014. Smile excursion measures were obtained using the Facial Assessment by Computer Evaluation-Gram on a subset of the included patients. RESULTS: A total of 107 patients undergoing 197 reconstructive procedures met inclusion criteria. Most reconstructions relied on the motor nerve branch to the masseter for innervation [n = 174 (88 percent)]. Thirteen complications were reported, of which six required surgical interventions. Three revision procedures were performed: scar revision, muscle repositioning, and removal of infected permanent suture material. The use of the motor nerve branch to the masseter resulted in good commissure excursion gains (average, 4.61 mm for bilateral cases and 9.34 mm for unilateral reconstructions). CONCLUSION: Midfacial animation with segmental gracilis muscle transfer for patients with Möbius syndrome provides gains in the amplitude and symmetry of oral commissure excursion and carries a reasonably low complication rate. CLINICAL QUESTION/LEVEL OF EVIDENCE: Therapeutic, IV.

Management of Bilateral Facial Palsy.

Bilateral facial paralysis is a rare entity that occurs in both pediatric and adult patients and can have congenital or acquired causes. When paralysis does not resolve with conservative or medical management, surgical intervention may be indicated. This article presents the authors' preferred technique for facial reanimation in patients with bilateral congenital facial paralysis. Specifically, a staged bilateral segmental gracilis transfer to ipsilateral nerve to masseter is discussed.

Labial Incompetence in Mobius Syndrome: LeFort I Impaction Case Report and Review of Management Strategies.

Difficulty with speech intelligibility in Mobius syndrome patients due to bilabial incompetence is common yet rarely discussed. We present a patient with Mobius syndrome who underwent counterclockwise LeFort I impaction to improve her labial competence. In addition, we present a literature review of management strategies for labial incompetence correction in Mobius patients. At 7-year follow-up after LeFort 1 impaction, the patient reports improvement in speech intelligibility, specifically regarding the ability to pronounce bilabial consonants. This is the first published report of LeFort I impaction to improve labial competence and bilabial consonant pronunciation in a Mobius syndrome patient.

Long-Term Outcomes of Smile Reconstruction in Möbius Syndrome.

BACKGROUND: Gracilis muscle transplant is the standard of care for smile reconstruction in children with Möbius syndrome. The authors describe the long-term clinical efficacy, durability, and psychosocial impact of this approach at a mean follow-up of 20 years. METHODS: Patients with Möbius syndrome who underwent gracilis muscle transfer between 1985 and 2005 were included in the study. The authors assessed midfacial movements using photographs and Scaled Measurement of Improvement in Lip Excursion measure, administered the patient-reported Facial Clinimetric Evaluation Scale, and used semistructured interviews. RESULTS: The mean age at surgery was 13.2 ±10.6 years and the mean follow-up was 20.4 ± 4.4 years postoperatively. Twenty-two gracilis muscle transplants were performed, all innervated by the motor nerve to the masseter. Photographic analysis using Scaled Measurement of Improvement in Lip Excursion software demonstrated that movement of the muscle was unchanged 20 years after surgery. Smile symmetry was stable long term. The overall mean Facial Clinimetric Evaluation score of the cohort was 62.3 ± 12.0. Facial comfort (86.4 ± 21.2) and social function (69.9 ± 18.5) subdomains were the highest. Although the facial movement subdomain score was 35.6 ± 12.4, the score related to smiling alone was 84.1 ± 20.2, indicating satisfaction with the midfacial reconstruction. Interview responses indicated high satisfaction with surgery; fulfilled expectations of social acceptance; improved communication; enhanced self-confidence; and a sense of increased facial symmetry, spontaneity, and smile excursion. CONCLUSION: Segmental gracilis muscle transplantation provides long-lasting, durable improvements in objective and patient-reported measures of facial function.

Reanimación facial en Síndrome de Möbius completo mediante transferencia en un solo tiempo de gracilis libre bilateral / One-stage facial reanimation with bilateral free gracilis muscle transfer in complete Möbius Syndrome

Introducción y Objetivo. El síndrome de Möbius es un trastorno congénito Que afecta al nervio facial y al abducens, provocando parálisis facial uni o bilateral y estrabismo. Su tratamiento consiste en lograr la reanimación facial con la transferencia de un músculo funcional libre. Típicamente, se ha realizado en dos o más etapas, siendo controvertido el tiempo entre las cirugías, así como el nervio donador ideal para el colgajo (rama maseterina del trigémino o espinal accesorio). Describimos nuestra cirugía de reanimación facial en Síndrome de Möbius completo mediante transferencia en un solo tiempo de gracilis libre bilateral, usando como nervio donador la rama maseterina del trigémino o el nervio espinal accesorio. Evaluamos resultados y determinamos si es un procedimiento efectivo y seguro. Material y Método. Entre marzo de 2014 y octubre de 2016, sometimos a transferencia en un solo tiempo de gracilis libre bilateral a 4 pacientes con Síndrome de Möbius. Realizamos exploración física y neurológica detallada para determinar los nervios donadores. Tradicionalmente nuestra primera elección es el trigémino, sin embargo estaba afectado en 2 pacientes, por lo que en ellos utilizamos el nervio espinal accesorio. El seguimiento promedio fue de 17 meses Hicimos la evaluación postoperatoria utilizando la escala de valoración estética y funcional de Terzis, la escala de excursión de la sonrisa de Chuang, y una escala de satisfacción postoperatoria. Resultados. De los 4 pacientes operados 2 eran varones y 2 mujeres. Realizamos 8 transferencias musculares libres en 4 tiempos quirúrgicos. Utilizamos los vasos faciales como receptores en todos los casos. Empleamos el nervio trigémino como donador en 2 pacientes y en los otros 2 el nervio espinal accesorio. No hubo complicaciones ni pérdidas de colgajos. Todos los pacientes lograron un mínimo de III en la escala de valoración estética y funcional de Terzis, y de IV en los que usamos el espinal accesorio como donador. El resultado mínimo utilizando la escala de excursión de la sonrisa de Chuang fue de 2, pero mejorando a 3 en los que usamos el espinal accesorio. El promedio en la escala de satisfacción postoperatoria fue de 3, pero en el paciente con mayor tiempo de seguimiento fue de 4. Conclusiones. La cirugía de reanimación facial en pacientes con síndrome de Möbius completo mediante transferencia en un solo tiempo quirúrgico de gracilis libre bilateral es un procedimiento seguro y efectivo. La selección cuidadosa de los pacientes, una exploración física completa cuidadosa, la selección de nervios motores donadores, la realización impecable de la cirugía y un programa de rehabilitación postoperatoria correcto, son indispensables para tener éxito

Background and Objective.Möbius syndrome is a congenital disorder that affects facial and abducens cranial nerves, resulting in uni or bilateral facial palsy and strabismus. The treatment is facial reanimation with free functional muscle transfer. Typically, facial reanimation has been realized in 2 or more stages with controversial issues, such as the amount of time between the stages and the ideal donor nerve (masseter or spinal accessory). We describe our one-stage facial reanimation surgery for complete Möbius Syndrome using 2 free gracilis muscle flaps, and bilateral trigeminal or spinal nerves as a donor. We evaluate our outcomes and determine if this is an effective and safe procedure. Methods. Between March 2014 and October 2016, 4 patients with complete Möbius Syndrome were operated using bilateral gracilis free muscle transfers in one surgical time. Detailed physical and neurologic examinations were performed with special emphasis on which cranial nerves were involved. Traditionally our first choice of nerve donor has been the trigeminal nerve, but it was involved in 2 patients, so in theme we used the spinal nerve as a donor to innervate 2 free gracilis flaps for smile reconstruction. The mean postoperative follow-up time was 17 months. Outcomes were assessed using the Terzis functional and aesthetic grading system, Chuang’s smile excursion score, and a questionnaire to evaluate patient satisfaction. Results. A total of 4 patients were included: 2 male and 2 female. We performed 8 free gracilis muscle transfers in 4 surgical times. We used the facial vessels in every flap, and the trigeminal nerve as a donor in 2 patients and in the 2 remaining, the spinal nerve. We have no complications nor flap failures. All patients achieved at least score of III using the Terzis functional and aesthetic grading system, and IV in those with spinal nerve as a donor. Likewise, the minimum score using Chuang’s smile excursion score was 2, but in those with spinal nerve as a donor we got a score of 3. Finally the mean satisfaction score was 3, but the patient with the longest follow-up time gave a 4. Conclusions. One-stage facial reanimation surgery for complete Möbius Syndrome using 2 free gracilis muscle flaps is an effective and safe procedure. Careful patient selection, adequate physical evaluation, motor nerve donor selection, flawless surgery performance, and adequate postoperative rehabilitation program, are mandatory in order to obtain success

Doble colgajo libre para reconstrucción mandibular compleja: osteocutáneo de peroné y antebraquial radial. Caso clinic / Double free flap for complex mandibular reconstruction: osteocutaneous fibula flap and radial forearm flap. Case report

La reconstrucción mandibular con doble colgajo libre vascularizado es inusual en la reconstrucción de cabeza y cuello. El presente artículo describe el caso de una paciente de 24 años de edad con osteosarcoma condroblástico de alto grado de piso de boca y hemimandíbula izquierda. Se realizó hemimandibulectomía amplia con resección de piel submandibular, procedimiento que dejó un defecto complejo que incluía hueso, mucosa y piel. La resección tumoral y la reconstrucción del defecto fue llevada a cabo en un solo procedimiento quirúrgico a través de 2 colgajos libres: uno osteocutáneo de peroné y otro antebraquial radial. Esta reconstrucción permitió alcanzar una función masticatoria adecuada, un contorno mandibular estético y una fonación normal

Mandibular reconstruction with double vascularized free flap in the reconstruction of head and neck is unusual. This article describes the case of a female patient 24 years old with a high-grade chondroblastic osteosarcoma of the floor of the mouth and of the left hemimandible. Hemimandibulectomy was performed with a wide resection of submandibular skin, leaving a complex defect which included bone, mucosa and skin. Tumor resection and reconstruction of the defect was performed in a single surgical procedure through 2 free flaps: a free osteocutaneous fibula flap and radial forearm flap. The reconstruction allowed to achieve an adequate chewing function, aesthetic mandibular contour and normal phonation

Facial reanimation surgery in Möbius syndrome: Experience from 76 cases from a tertiary referral hospital in Latin America.

INTRODUCTION: Möbius syndrome is defined as a combined congenital bilateral facial and abducens nerve palsies. The main goal of treatment is to provide facial reanimation by means of a dynamic surgical procedure. The microneurovascular transfer of a free muscle transplant is the procedure of choice for facial animation in a child with facial paralysis. OBSERVATION: Between January 2008 and January 2017, 124 patients with the syndrome have been approached at our institution. Distribution according to Möbius Syndrome classification presents as follows: Complete Möbius syndrome (n=88), Incomplete Möbius syndrome (n=28), Möbius-Like syndrome (n=8). Seventy-nine female and 45 male patients. Sixty-one percent have undergone a microsurgical procedure (n=76), in all of them, a free gracilis flap transfer was performed. DISCUSSION: Our proposed treatment protocol for complete Möbius syndrome is determined by the available donor nerves. We prefer to use the masseteric nerve as first choice, however, if this nerve is not available, then our second choice is the spinal accesory nerve. For this purpose, all patients have an electromyography performed preoperatively. Overall, dynamic facial reanimation obtained through the microvascular transfer of the gracilis muscle have proved to improve notoriously oral comissure excursion and speech intelligibility. CONCLUSION: The free gracilis flap transfer is a reproducible procedure for patients with Möbius syndrome. It is of utmost importance to select the best motor nerve possible, based on an individualized preoperative clinical and electromyographic evaluation. To our best knowledge, this is the largest series of patients with Möbius syndrome globally, treated at a single-institution.

[Evidence level and grade of recommendation of the Ponseti method for arthrogryposis-related syndromic talipes equinovarus and Moebius syndrome: a systematic review]. / Nivel de evidencia y grado de recomendación del uso del método de Ponseti en el pie equino varo sindromático por artrogriposis y síndrome de Moebius: una revisión sistemática.

BACKGROUND: Adduct congenital talipes equinovarus (CTE) or clubfoot is a common musculoskeletal malformation affecting between 1 and 4.5 out of every 1000 live births. It is usually associated with arthrogryposis and Moebius syndrome with the latter two being more difficult to treat as they require aggressive surgery to achieve a plantigrade foot. We therefore ask what is the evidence level and grade of recommendation of the Ponseti method to treat syndromic talipes equinovarus resulting from arthrogryposis and Moebius syndrome. METHODS: Systematic review according to the recommendations of the Cochrane group identifying medical subheadings (MeSH) and of the Boolean method to identify the articles that met the selection criteria through the search of primary sources such as OVID, Cochrane, EBSCOhost, Elsevier, Medigraphic. RESULTS: A total of six papers met the selection criteria through the search in the primary sources. Five of them address the treatment of adduct CTE with the Ponseti method in patients with arthrogryposis, and one in patients with Moebius. Evidence levels and grades of recommendation of these papers were: IV-D (3), III-D (1) y II (B). CONCLUSIONS: The Ponseti method is an first-line treatment for arthrogryposis and Moebius syndrome. It is unexpensive, non-invasive and does not require a physician to perform it (however, it does require trained staff). Its use is recommended as it avoids extensive surgeries and medical complications that go beyond the hospitals economic possibilities.

ANTECEDENTES: El pie equino varo aducto congénito (PEVAC) es una malformación musculoesquelética común que afecta de uno a 4.5 de cada 1,000 nacidos vivos; se asocia de manera común a artrogriposis y síndrome de Moebius; éstos son más difíciles de tratar y requieren de tratamientos quirúrgicos agresivos para lograr un pie plantígrado; por lo tanto, ¿cuál es el nivel de evidencia y grado de recomendación del uso del método de Ponseti en el pie equino varo sindromático por artrogriposis y síndrome de Moebius? MÉTODOS: Estudio de diseño de revisión sistemática de acuerdo a las recomendaciones del grupo Cochrane por medio de la identificación de Medical Subject Headings (MeSH) y del método booleano para ubicar artículos que cumplieran con los criterios de selección mediante búsqueda de fuentes primarias como OVID, Cochrane, EBSCOhost, Elsevier, Medigraphic. RESULTADOS: En total, seis artículos cumplieron con los criterios de selección a través de la búsqueda de fuentes primarias: cinco de ellos sobre el tratamiento del PEVAC con método de Ponseti en pacientes con artrogriposis y uno para pacientes con Moebius. Se encontraron artículos con niveles de evidencia y grado de recomendación: IV-D (3), III-D (1) y II (B). CONCLUSIONES: El método de Ponseti es un tratamiento inicial en artrogriposis y síndrome de Moebius; es barato, no invasivo y no requiere de un médico para poderse realizar (pero sí un personal capacitado); se recomienda su uso para evitar cirugías extensas y complicaciones médicas que trascienden al orden económico intrahospitalario.

Estudio clínico, citogenético, molecular y de imagen de los pacientes con síndrome de Moebius del Hospital General 'Dr Manuel Gea González', Ciudad de México / Clinical, cytogenetic, molecular and image study of patients with Mobius syndrome at the General Hospital 'Dr Manuel Gea González', Mexico city

Introducción y Objetivo. El síndrome de Moebius es un trastorno congénito poco frecuente con prevalencia menor del 0.05%, caracterizado por parálisis facial congénita asociada a ausencia de abducción de los ojos por alteraciones del VI y VII nervios craneales, ya sea simétrica o asimétrica. La etiopatogenia cuenta con diferentes hipótesis: genética, vascular y teratógena. Existen pocos reportes en la literatura, y en especial en la latinoamericana, que describan las características clínicas y genéticas de estos pacientes. El presente estudio es el resultado del desarrollo de un equipo multidisciplinario en nuestro centro hospitalario para la descripción del espectro completo de la patología y así poder ofrecer los mejores tratamientos para cada uno de nuestros pacientes. Material y Método. Analizamos 115 pacientes con diagnóstico de síndrome de Moebius en sus 3 presentaciones: Moebius clásico, Moebius incompleto o Moebiuslike. Todos fueron sometidos a exploración física completa por un equipo multidisciplinario formado por ortopedistas, oftalmólogos, otorrinolaringólogos, ortodoncistas, neurólogos, pediatras, genetistas y cirujanos plásticos. Realizamos cariotipos a todos los pacientes para identificar anormalidades estructurales cromosómicas y enviamos muestras al Instituto Nacional de Medicina Genómica (INMeGen) para análisis molecular de cada paciente e identificación de posibles genes involucrados. Resultados. Un total de 52 pacientes (45%) fueron varones y 63 (55%) mujeres. Las manifestaciones clínicas fueron parálisis facial unilateral o bilateral con involucro de la abducción de los ojos en el 100%, asociada con estrabismo en el 62.6%, pie equino varo en el 46.1%, sindactilia simple 15.7%, paladar hendido 17.4%, micrognatia 17.4%, y síndrome de Poland 9.6%, entre otras manifestaciones. El análisis citogenético reportó 114 cariotipos de características estructurales normales y 1 solo caso de translocación recíproca balanceada entre el cromosoma 4 y 10. Dieciséis casos se asociaron a consumo materno de misoprostol en el primer trimestre del embarazo. El análisis molecular no se pudo concretar debido a falta de recursos materiales del INMeGen. Conclusiones. Hasta la fecha, y hasta donde hemos podido comprobar, esta es la cohorte de pacientes con síndrome de Moebius más grande reportada a nivel mundial en un solo centro hospitalario. La variabilidad de las presentaciones clínicas justifica el manejo por un equipo multidisciplinario tanto para el paciente como para los familiares. Este estudio abre las puertas para un campo de investigación mayor que nos pueda llevar a entender mejor la fisiopatología, intentar estableces causalidad y por lo tanto poder ofrecer mejores tratamientos, integrales y reproducibles (AU)

Background and Objective. Möbius syndrome is a rare congenital disease characterized by facial paralysis associated with an absence of abduction of the eyes for abnormalities in VI and VII cranial nerves. The pathogenesis has different hypothesis that include genetic, vascular and teratogenic causes. There are few reports in the literature and especially in Latin America to describe the clinical and genetic characteristics of these patients. The current study is the result of a multidisciplinary team developed in our center to describe the wide spectrum of the disease and offer the best treatment options to each of our patients. Methods. We analyzed 115 patients with the diagnosis of Möbius syndrome in its 3 presentations. All patients underwent a complete clinical examination by a multidisciplinary team formed by orthopedist, ophthalmologist, otolaryngologist, orthodontist, neurologist, plastic surgeon, pediatrician and geneticist. They underwent CTG banded karyotype to identify structural chromosome abnormalities. Results. Fifty two patients (45%) patients were male and 63 (55%) female. Clinical manifestations were found with unilateral or bilateral facial paralysis with VI nerve involvement in 100% of patients, associated with strabismus in 62.6%, 46.1% clubfoot, simple syndactyly 15.7%, 17.4% cleft palate, micrognathia 17.4%, Poland syndrome 9.6%, among others. Cytogenetic analysis showed normal karyotype in 114 patients and a reciprocal translocation between chromosome 4 and 10 in 1 patient. Sixteen cases of reported intake of misoprostol during the first trimester. Conclusions. As far as we know, this study is the largest global cohort reported in a single hospital of patients with Möbius syndrome. Variability of the clinical presentation justifies the management of these patients is a multidisciplinary team. This study opens the door for new studies that allow us to understand the pathophysiology of this disease and its response to different treatments (AU)

Upper Eyelid Splitting to Facilitate the Insertion of Glaucoma Drainage Devices.

PURPOSE: To describe a new application for vertical splitting of the upper eyelid, a technique traditionally used for orbital access, to facilitate glaucoma drainage device (GDD) implantation in patients with poor surgical exposure. METHODS: Case series. CASES: We present a case of Möbius syndrome with complete restriction of the extraocular muscles, followed by a case of cicatricial narrowing of the palpebral fissures due to chronic allergic dermatitis. Both patients had severe, medically uncontrolled glaucoma, but poor surgical exposure precluded implantation of a GDD. Both cases underwent vertical splitting of the upper eyelid, which allowed for adequate exposure of the superior globe quadrants and successful implantation of a GDD. CONCLUSIONS: A variety of congenital or acquired conditions result in narrowing of the palpebral fissure or restriction of extraocular motility. When these patients have concurrent advanced glaucoma, inadequate surgical exposure can impede necessary surgical intervention. Use of a vertical upper eyelid split technique allows for access to the superior globe and facilitates implantation of a GDD.

Nivel de evidencia y grado de recomendación del uso del método de Ponseti en el pie equino varo sindromático por artrogriposis y síndrome de Moebius: una revisión sistemática / Evidence level and grade of recommendation of the Ponseti method for arthrogryposis-related syndromic talipes equinovarus and Moebius syndrome: a systematic review

Resumen: Antecedentes: El pie equino varo aducto congénito (PEVAC) es una malformación musculoesquelética común que afecta de uno a 4.5 de cada 1,000 nacidos vivos; se asocia de manera común a artrogriposis y síndrome de Moebius; éstos son más difíciles de tratar y requieren de tratamientos quirúrgicos agresivos para lograr un pie plantígrado; por lo tanto, ¿cuál es el nivel de evidencia y grado de recomendación del uso del método de Ponseti en el pie equino varo sindromático por artrogriposis y síndrome de Moebius? Métodos: Estudio de diseño de revisión sistemática de acuerdo a las recomendaciones del grupo Cochrane por medio de la identificación de Medical Subject Headings (MeSH) y del método booleano para ubicar artículos que cumplieran con los criterios de selección mediante búsqueda de fuentes primarias como OVID, Cochrane, EBSCOhost, Elsevier, Medigraphic. Resultados: En total, seis artículos cumplieron con los criterios de selección a través de la búsqueda de fuentes primarias: cinco de ellos sobre el tratamiento del PEVAC con método de Ponseti en pacientes con artrogriposis y uno para pacientes con Moebius. Se encontraron artículos con niveles de evidencia y grado de recomendación: IV-D (3), III-D (1) y II (B). Conclusiones: El método de Ponseti es un tratamiento inicial en artrogriposis y síndrome de Moebius; es barato, no invasivo y no requiere de un médico para poderse realizar (pero sí un personal capacitado); se recomienda su uso para evitar cirugías extensas y complicaciones médicas que trascienden al orden económico intrahospitalario.

Abstract: Background: Adduct congenital talipes equinovarus (CTE) or clubfoot is a common musculoskeletal malformation affecting between 1 and 4.5 out of every 1000 live births. It is usually associated with arthrogryposis and Moebius syndrome with the latter two being more difficult to treat as they require aggressive surgery to achieve a plantigrade foot. We therefore ask what is the evidence level and grade of recommendation of the Ponseti method to treat syndromic talipes equinovarus resulting from arthrogryposis and Moebius syndrome. Methods: Systematic review according to the recommendations of the Cochrane group identifying medical subheadings (MeSH) and of the Boolean method to identify the articles that met the selection criteria through the search of primary sources such as OVID, Cochrane, EBSCOhost, Elsevier, Medigraphic. Results: A total of six papers met the selection criteria through the search in the primary sources. Five of them address the treatment of adduct CTE with the Ponseti method in patients with arthrogryposis, and one in patients with Moebius. Evidence levels and grades of recommendation of these papers were: IV-D (3), III-D (1) y II (B). Conclusions: The Ponseti method is an first-line treatment for arthrogryposis and Moebius syndrome. It is unexpensive, non-invasive and does not require a physician to perform it (however, it does require trained staff). Its use is recommended as it avoids extensive surgeries and medical complications that go beyond the hospitals' economic possibilities.

Mobius Syndrome: A 35-Year Single Institution Experience.

BACKGROUND: Mobius syndrome is a rare syndrome that is known to be associated with a variety of orthopaedic conditions including scoliosis, clubfoot, transverse limb deficiencies, Poland syndrome, and a myriad of hand conditions. To date, no large series exist to characterize the orthopaedic manifestations of Mobius syndrome. METHODS: Medical records at a single tertiary pediatric institution were reviewed for all patients diagnosed with Mobius syndrome from January 1, 1980 to December 31, 2015. Records and radiographs were reviewed for associated orthopaedic conditions and their management. RESULTS: In total, 44 patients with Mobius syndrome were identified. Age at presentation ranged from 6 days to 14 years. When compared with the general population, patients with Mobius syndrome had an increased incidence of clubfoot (41%), Poland syndrome (20%), and scoliosis (14%). Clubfoot treated both before and after the institution of Ponseti casting had a high rate of requiring posteromedial release, with a significant rate of subsequent revision. Hip dysplasia was noted in 1 patient and required surgical correction. Other associated syndromes included arthrogryposis, Pierre Robin syndrome, and chromosome 10 defect. CONCLUSIONS: Mobius syndrome is accompanied by an increased rate of several orthopaedic problems; most notably clubfoot, scoliosis, and upper extremity differences that often require surgical treatment. The management of clubfoot in the setting of Mobius syndrome often requires surgical intervention due to failure of casting, and seems to have a higher rate of need for revision. Early involvement of orthopaedists in the care of patients with Mobius syndrome is often necessary. Orthopaedist should counsel families that treatment may be more complex than that of idiopathic disease. LEVEL OF EVIDENCE: Level IV-case series.

[Electromyographic assessment of the temporalis muscle prior to a lengthening myoplasty in patients with Moebius syndrome]. / Étude électromyographique du muscle temporalis avant une myoplastie d'allongement dans le syndrome de Moebius.

BACKGROUND/OBJECTIVES: Temporalis muscle lengthening myoplasty improves tightening of the lips and rehabilitates smile for patients with congenital facial palsies. Because Moebius syndrome is heterogeneous, a careful evaluation is mandatory before deciding to perform myoplasty. This series shows the role of electromyography for investigating temporalis muscle and trigeminal nerve motor functions. METHODS: We conducted a retrospective study of 18 patients with no upward movements of the labial commissure and absent or unsightly smile. Electromyography was used to study the temporalis muscle bilaterally. Analysis focused on the recruitment pattern of voluntary contraction and electrical silence or activity at rest. Traces were classified as normal, neurogenic, or low-amplitude. Functional outcomes of myoplasty were evaluated by measuring the upward movement of the commissure (mm), and qualified as high (≥10), medium (>5), or little (≤5). RESULTS: Surgery was cancelled for 5 patients with abnormal electromyographic signs, neurogenic (2) or low-amplitude (3). Myoplasty was performed in 7 patients (age: 8-17 years), unilaterally (3) or bilaterally (4). Preoperative electromyogram was normal (3), or showed moderate neurogenic (2) or low-amplitude (2) changes. Follow-up period after surgery was from 2 to 12 years; functional outcomes were high (5), medium (1), or little (1). CONCLUSION: Electromyographic study of the temporalis can detect muscle denervation or atrophy, or dyspraxia, and guide decision to encourage or discourage performing myoplasty, or enhance rehabilitation programme and make the patient aware of possibly modest outcome.

[Longterm surgery outcome of Möbius syndrome].

Objective: To investigate clinical features and the long-term surgery results of Möbius syndrome patients. Methods: This investigation presents a retrospective study of Möbius syndrome in 7 children we found since 2009. All 7 patients had MRI scan, ocular alignment in primary position, the limitation of versions and ductions and forced duction under general anesthesia. Early surgery is done to the 7 esotropia children. The pre-operative and post-operative outcomes, including the ocular alignment, deviation measurements and ocular rotations, were evaluated and compared. Results: MRI showed absence of uni- or bilateral CN6 and CN7 in all 7 patients. All 7 patients underwent extra large recession of medial rectus at the first surgery, (6.17±1.47) mm/eye. Variation of ocular deviation in the primary position within 6 months postoperatively in all patients, demonstrating that strabismus surgical stabilization needs time. Three patients with esotropia deviation≥40° preoperative were under corrected and needed the secondary operations. The average deviation in the primary position was +35.00°±16.58° before surgery and +2.14°±5.67° after surgery(t=6.040, P<0.01). The abduction in affected eye is limited both pre and postoperatively and a smaller limitation of adduction after surgery. Conclusions: Möbius syndrome has been classified to congenital cranial dysinnervation disorders (CCDDs). We recommend MR recession as the first surgical choice because of the lack of abduction ability. Longterm surgical results were considered satisfactory, improving patient self-esteem and the parent satisfaction. (Chin J Ophthalmol, 2017, 53: 897-902).