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OBJECTIVE: To investigate the application of fetuses with talipes equinovarus(TE)using chromosomal microarray analysis(CMA)technology. METHODS: From May 2012 to June 2015, 54 fetuses were found with TE and with or without other structural anomalies by prenatal ultrasound. Karyotyping was taking for them all, and the fetuses with normal karyotypes took another CMA test. The data were analyzed with CHAS software. Finally all the cases were followed up to know about their pregnancy outcomes. RESULTS: One of the 54 cases was detected with abnormal karyotype which was trisomy 18(2%, 1/54). CMA was undertaken to the remaining fetuses, they were divided into 2 groups, including isolated TE group(n= 38)and complex TE group(n=15). The detection rate of clinical significant copy number variations(CNV)by CMA was 11%(6/53), while isolated and complex TE group were 5%(2/38)and 4/15, respectively(P= 0.047). Of the 53 cases, 51 cases were successfully followed up. Eleven cases were found without TE after birth, and the false positive rate(FPR)of TE was 22%(11/51). CONCLUSIONS: Whole-genome high-resolution CMA increased the detection rate by 11% in fetuses with TE. With the FPR and the detection rate of the clinical significant CNV of 2 groups, whole-genome CMA could be recommended to the fetuses with complex TE group but normal karyotypes. A series of ultrasonic tests should be suggested to the isolate TE group, while with the abnormal ultrasound, fetuses would be suggested to have CMA test for decreasing the rates of invasive prenatal diagnosis and FPR.

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Embora o pé torto congênito seja uma das deformidades congênitas mais comuns dos membros inferiores, ainda há controvérsias com relação à etiologia e ao tratamento. Apesar da frequência relativamente alta, o tratamento é desafiador, pois objetiva a obter um pé funcional, flexível, plantígrado e indolor, com resultados permanentes. O método de Ponseti destaca-se por propiciar resultados mais satisfatórios e diminuir a necessidade de cirurgias. Entretanto, o tratamento cirúrgico deve ser indicado após falha do tratamento conservador adequadamente realizado. A tendência atual consiste em evitar as extensas liberações cirúrgicas e, quando houver necessidade de cirurgia, preconizam-se correções localizadas, também conhecidas por liberações "à la carte". A perspectiva futura fundamenta-se em conhecer resultados de tratamento a longo prazo e novos conhecimentos sobre a etiologia do pé torto congênito, especialmente do ponto de vista genético, que poderão, eventualmente, auxiliar na determinação do prognóstico e até no tratamento. Nível de Evidência: Nível II, revisão sistemática.

The clubfoot is one of the most common congenital deformities affecting the lower limbs, it still presents controversial aspects regarding etiology and treatment. In spite of its relatively high frequency, the treatment is still challenging, since the long-term aim is achieving an everlasting flexible, plantigrade, pain-free and totally functional foot. The Ponseti method has gained attention and popularity because of its satisfactory results and surgery avoidance. Presently, surgical treatment is indicated only after failure of conservative methods, avoiding extensive soft-tissue release, but performing localized corrections of the deformities, a technique also know as "a la carte" release. The future perspective is based on the knowledge about long-term results and new understanding of the clubfoot etiology, especially in the genetic field, which may eventually be helpful for prognostic and treatment. Level of Evidence: Level II, systematic review.

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Introducción. El pie zambo idiopático es un diagnóstico de exclusión, similar al de la escoliosis idiopática, que requiere antes de definirlo la búsqueda de una causa. Exploración. La evaluación clínica no debe limitarse a una simple exploración ortopédica, sino que también debe incluir una exploración pediátrica completa, evaluando la edad mental del paciente, buscando posibles anomalías del tubo neural o trastornos vertebrales, descartar cualquier forma de presentación de patología neurológica, como miopatías congénitas o incluso una mínima artrogriposis, además de explorar cuidadosamente la cara y las manos. Diagnóstico. Recomendamos practicar ecografías para explorar la médula espinal, la situación del encéfalo, del corazón, etc. Algunas patologías pueden diagnosticarse de forma secundaria. Además, la rigidez del retropié podría sugerir una sinostosis neonatal encubierta. Tratamiento. Hay que valorar correctamente el pie tras el nacimiento. El tratamiento se considera una urgencia donde cada día cuenta. La ayuda y cooperación de los padres son esenciales. No es recomendable seguir con el tratamiento ortopédico una vez deja de producir mejoría, siendo necesario entonces la cirugía. Para ser un experto en su rehabilitación es imprescindible conocer la fisiopatología del pie zambo. La rehabilitación se debe adaptar al desarrollo psicomotriz del lactante. El médico rehabilitador ocupa un papel primordial, y debe cooperar con los padres y formar parte de un equipo multidisciplinar, refiriendo al cirujano cualquier problema o bloqueo que aparezca durante la rehabilitación. Recomendamos encarecidamente la presencia del rehabilitador en quirófano para conocer la importancia de las retracciones fibrosas. Para poder especializarse en este campo es necesario formarse de manera continuada. La imagen del movimiento es de mucha utilidad para conocer la fisiopatología y evolución con los tratamientos de cada pie; sin olvidar que la cirugía es una fase integrada del tratamiento que se ha de prolongar durante todo el período de crecimiento (AU)

Introduction. Idiopathic clubfoot, like idiopathic scoliosis, is an exclusion diagnosis, which requires the identification of a cause before it can be defined. Examination. Clinical assessment should not be limited to a simple orthopedic examination – it should also include a full pediatric examination, in the course of which the mental age of the patient should be determined and possible neural tube defects and vertebral disorders should be sought without excluding the existence of any type of neurological pathology like a congenital myopathy or even a mild arthrogriposis. The patient’s face and hands should also be meticulously examined Diagnosis. We recommend that ultrasounds should be performed to explore the spinal cord, the condition of the brain, the heart, etc. as some pathologies tend to be detected incidentally. In addition, rearfoot rigidity could suggest an “undercover” neonatal synostosis. Treatment. The foot should be correctly assessed upon birth. Treatment of this pathology is an emergency and each day counts. Parents’ help and involvement cannot be overemphasized. It is not advisable to carry on with orthopedic treatment once it ceases to improve the patients’ condition. At this point, surgery becomes necessary. In order to become an expert in clubfoot rehabilitation, it is imperative to understand the condition’s physiopathology. The rehabilitation program should be adapted to the infant’s psychomotor development. The rehab physician, whose role is of paramount importance, should actively cooperate with the patient’s parents and participate in a multi-disciplinary team, immediately reporting to the surgeon any problem or blockage that may arise during the rehabilitation process. We strongly recommend that the rehab physician should be in attendance at the OR during surgery so that they can understand the importance of fibrous retractions. In order to become a specialist in this field, comprehensive training is necessary. Images of the moving foot are extremely useful in order to become acquainted with the phyisiopathology of the limb and to understand what results can be achieved with treatment. Of course it should not be forgotten that surgery is an integral part of the patient’s treatment, which should last throughout their growing phase (AU)

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We report on a Brazilian family with six affected patients, in two generations, which presented flat face and feet anomalies ranging from mild metatarsus varus to severe clubfoot. Autosomal dominant pattern of inheritance can be demonstrated. Clinical and genetical aspects are discussed

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