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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.

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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.

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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.

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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.

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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.

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A síndrome de Moebius (ou de Möbius, como também é escrito) é uma patologia que afeta principalmente o segmento cefálico dos indivíduos acometidos, e por isso está incluída nas síndromes cranio-faciais, mais particularmente no grupo de doenças denominadas miopatias mistas. A síndrome de Moebius caracteriza-se pela paralisia congênita dos pares cranianos VI e VII. A fisiopatologia inicia-se na fase embrionária e continua suas manifestações até a etapa final do crescimento do indivíduo. Por acometer tanto os tecidos molose quanto o tecido ósseo, esta doença interessa a diversos profissionais. Dentre as especialidades implicadas no tratamento devem-se citar o cirurgião plástico e maxilo-facial, odontólogos especializados em ortopedia funcional dos maxilares e ortodontia (móvel e fixa), pediatras, ortopedistas, fonoaudiólogos, psicólogos e geneticistas.

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