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Amniotic band syndrome (ABS) and clubfoot are distinct congenital musculoskeletal conditions that can occasionally co-occur, creating unique challenges in their management. This paper summarizes the comprehensive discussion on the management of amniotic band syndrome (ABS) and clubfoot, emphasizing the critical role of the Ponseti method and the challenges faced in treatment, thereby providing a basis for further research and improved patient care.

El síndrome de banda amniótica (ABS) y el pie zambo son afecciones musculoesqueléticas congénitas distintas que ocasionalmente pueden coexistir, creando desafíos únicos en su manejo. Este artículo resume la discusión exhaustiva sobre el tratamiento del síndrome de bandas amnióticas (ABS) y el pie zambo, enfatizando el papel fundamental del método Ponseti y los desafíos que enfrenta el tratamiento, proporcionando así una base para futuras investigaciones y una mejor atención al paciente.

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El síndrome de banda amniótica (SBA) o complejo de disrupción de banda amniótica es aquella malformación congénita que ocurre como consecuencia de bridas amnióticas de etiología heterogénea, patogénesis que involucra una serie de manifestaciones clínicas fetales, tales como constricción, amputación y múltiples defectos craneofaciales, viscerales y de la pared del cuerpo. La prevalencia estimada de SBA oscila entre 1:15,000 y 1:1,200 nacidos vivos. Afecta a ambos sexos por igual. El diagnóstico prenatal puede sospecharse tan pronto como el primer trimestre tardío, cuando las imágenes por ultrasonido detectan anillos de constricción, amputaciones de extremidades y/o defectos craneofaciales. La terapia prenatal puede ofrecer una alternativa de tratamiento con la liberación de anillos de constricción bajo fetoscopia en aquellos fetos que se verían beneficiados con el procedimiento.

Amniotic band syndrome (ABS) or amniotic band disruption complex is a congenital malformation that occurs because of amniotic flanges of heterogeneous etiology, a pathogenesis that involves a series of fetal clinical manifestations, such as constriction, amputation, and multiple craniofacial, visceral and wall defects. The estimated prevalence of ABS ranges from 1:15.000 to 1:1.200 liveborn. It affects both sexes equally. Prenatal diagnosis may be suspected as early as the late first trimester when ultrasound imaging detects constriction rings, limb amputations and/or craniofacial defects. Prenatal therapy may offer an alternative treatment with release of constriction rings through fetoscopy in those fetuses that would benefit from the procedure.

RESUMO

Amniotic band syndrome (ABS) is a congenital disease that causes a variable degree of deformity and tissue disruption. Surgical excision of fibrotic tissue and advancement of local flaps is the gold standard for constriction bands of the upper limb. We report the use of an adipofascial Superficial Circumflex Iliac Artery perforator (SCIP) flap to improve contour following amniotic band resection in the upper extremity in two patients with ABS. The use of this microsurgical technique can be considered in the occasional patient when there is a deficit of soft tissues after release of the contracture band that cannot be addressed with locally available tissue.

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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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Introducción: el síndrome de bandas amnióticas abarca una variedad de anomalías congénitas que incluyen la deformación, disrupción y malformación de múltiples órganos. Este síndrome tiene diferentes manifestaciones clínicas al nacimiento, como anillos formados por la constricción de las bandas, amputaciones de extremidades y malformaciones craneofaciales. La incidencia es de aproximadamente 1 en 1,200-15,000 nacidos vivos. Objetivo: realizar la descripción de un paciente femenino de 4 meses de edad que acude al servicio de cirugía oral y maxilofacial del Hospital del Niño DIF Pachuca, Hidalgo, México. La paciente presenta deformidad en la región geniana que se extiende desde el labio superior hasta la región infraorbitaria de lado derecho, pit paracomisural derecho y fisura Tessier 7. Conclusión: se da el diagnóstico final de deformidad maxilofacial a causa del síndrome de bandas amnióticas y la paciente recibe tratamiento médico-quirúrgico con un resultado satisfactorio.

Backgrond: Amniotic band syndrome encompasses a variety of congenital anomalies which include deformation, disruption, or malformation of multiple organs, exhibiting different clinical manifestations at birth, such as rings formed by the constriction of the bands, limb amputations and craniofacial malformations. The incidence is approximately 1 in 1,200-15,000 live births. Objective: To describe a 4-month-old female patient who attends the oral and maxillofacial surgery service of the Hospital del Niño DIF Pachuca, Hidalgo, Mexico, presenting a deformity in the genian region that extending from the upper lip to the infraorbital region on the right side, right paracommissural pit and Tessier fissure 7. Conclusion: In the final diagnosis of maxillofacial deformity due to amniotic band syndrome, medical-surgical treatment is received with a satisfactory result.

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Síndrome de bridas amnióticas (SBA), una anomalía congènita caracterizada por constricciones y/o amputaciones completas de extremidades a causa de las bridas amnióticas durante el embarazo. En los casos más graves las amputaciones completas están asociadas con otras malformaciones como las craneofaciales. La patogenia del SBA es controversial con baja incidencia. El diagnóstico prenatal oscila entre el 29% a 50% de los casos. Presentamos el caso de una paciente con brida amniótica diagnosticada en la semana 33 de gestación, atendida en nuestro Servicio de Ginecología y Obstetricia del Hospital Obrero N°2 de la Caja Nacional de Salud de Cochabamba, Bolivia.

Amniotic band syndrome (ABS) is a congenital anomaly characterized by constrictions and/or complete amputations of limbs due to amniotic bands during pregnancy. In the most severe cases, complete amputations are associated with other malformations such as craniofacial abnormalities. The pathogenesis of ABS is controversial and has a low incidence. Prenatal diagnosis ranges from 29% to 50% of cases. We present the case of a patient with an amniotic band diagnosed at week 33 of pregnancy, treated in our Gynecology and Obstetrics Service of Hospital Obrero N°2 of the National Health Fund of Cochabamba, Bolivia.

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Amniotic band syndrome is a rare condition that is associated with various malformations. Its etiology is controversial. The neuroimage shown here is of a newborn with placenta-encephalocele adhesion and other malformations that suggest amniotic band syndrome.

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El síndrome de bridas amnióticas es un complejo de anomalías congénitas causadas por la rotura prematura del amnios, por lo que se originan bandas fibrosas que comprimen determinadas regiones del feto. Afecta a entre 1:1200 y 1:15 000 recién nacidos vivos según las series consultadas.La clínica típica consiste en alteraciones en las extremidades (anillos de constricción, amputaciones asimétricas más o menos distales, sindactilias y pie zambo), y se han descrito alteraciones toracoabdominales o faciales. Recientes trabajos han demostrado la utilidad del método de Ponseti en el tratamiento del pie zambo asociado al síndrome de bridas amnióticas. Se presenta el caso de un recién nacido que padecía un síndrome de bridas amnióticas y se ahonda en el manejo y la resolución quirúrgica de las malformaciones en las extremidades. En especial, se analiza la utilización del método de Ponseti en el tratamiento del pie zambo congénito sindrómic

Amniotic band syndrome consists in a group of congenital abnormalities caused by strands of the amniotic sac that entangle some parts of the fetus. Those strands result from premature rupture of amnios. The incidence of amniotic band syndrome is 1:1200 to 1:15,000 live births, depending on case studies.Mostly affected parts of fetus are limbs (asymmetric amputations, syndactyly and clubbed foot) but facial and thoracoabdominal abnormalities have also been described.Recent works have proved the utility of Ponseti method to treat clubfoot associated with amniotic band syndrome. We report the case of a newborn with amniotic band syndrome focusing on management and surgical repair of limbs deformities. Especially, we highlight the use of Ponseti method in treatment of syndromic clubfoot

Assuntos

RESUMO

Amniotic band syndrome consists in a group of congenital abnormalities caused by strands of the amniotic sac that entangle some parts of the fetus. Those strands result from premature rupture of amnios. The incidence of amniotic band syndrome is 1:1200 to 1:15,000 live births, depending on case studies. Mostly affected parts of fetus are limbs (asymmetric amputations, syndactyly and clubbed foot) but facial and thoracoabdominal abnormalities have also been described. Recent works have proved the utility of Ponseti method to treat clubfoot associated with amniotic band syndrome. We report the case of a newborn with amniotic band syndrome focusing on management and surgical repair of limbs deformities. Especially, we highlight the use of Ponseti method in treatment of syndromic clubfoot.

El síndrome de bridas amnióticas es un complejo de anomalías congénitas causadas por la rotura prematura del amnios, por lo que se originan bandas fibrosas que comprimen determinadas regiones del feto. Afecta a entre 1:1200 y 1:15 000 recién nacidos vivos según las series consultadas. La clínica típica consiste en alteraciones en las extremidades (anillos de constricción, amputaciones asimétricas más o menos distales, sindactilias y pie zambo), y se han descrito alteraciones toracoabdominales o faciales. Recientes trabajos han demostrado la utilidad del método de Ponseti en el tratamiento del pie zambo asociado al síndrome de bridas amnióticas. Se presenta el caso de un recién nacido que padecía un síndrome de bridas amnióticas y se ahonda en el manejo y la resolución quirúrgica de las malformaciones en las extremidades. En especial, se analiza la utilización del método de Ponseti en el tratamiento del pie zambo congénito sindrómico.

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A previously unrecognized first-trimester presentation of the acrania-anencephaly sequence is described. Ultrasound features included a constriction ring around the external base of the developing skull and an enlarged globular head, resembling a Turkish turban, with large cystic spaces replacing the brain. This constellation of findings was noted in 3 first-trimester fetuses. In 2 of them, it was possible to identify the amniotic membrane attached to the constriction ring. One case presented with anencephaly and fetal demise at 16 weeks. The other 2 women terminated the pregnancies and aborted anencephalic fetuses. This subtype of the acrania-anencephaly sequence could represent an earlier segmental rupture of the amnion, which subsequently entraps the developing fetal skull.

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