Tratamiento para deformidades angulares en fémur distal con sistema LCP / Treatment of angular deformities in distal femur with LCP system

Las deformidades angulares en fémur distal son frecuentes en la consulta de ortopedia. Dependiendo del tipo de deformidad y la edad del paciente existen diferentes técnicas de corrección quirúrgica para mejorar la biomecánica de la rodilla, evitar el dolor y prevenir el daño del aparato extensor, la artrosis temprana y degeneración tardía de la articulación de la rodilla. Se realizó un estudio de tipo observacional, descriptivo, longitudinal haciendo uso del Sistema LCP como tratamiento de las deformidades angulares en Fémur Distal en pacientes con madurez esquelética alcanzada tratados en el Hospital Ortopédico Infantil durante el periodo 2012 ­ 2022. Se incluyeron un total de 17 pacientes que representan 23 rodillas; predominó el género femenino con un 76% respecto al masculino con solo 24%. La edad media de intervención quirúrgica de fue de 15±1,66 años y la edad de evaluación final de 16±1,7años. Al comparar los promedios de la evaluación radiológica pre y postoperatoria, se encontraron diferencias estadísticamente significativas <0,05 en cuanto a la corrección de la Desviación del Eje Mecánico (MAD), Ángulo Femoral Distal Lateral mecánico (LDFAm) y ángulo Femoro Tibial (AFT). El tiempo de consolidación promedio fue de 11,3±1,4 semanas, no se presentaron complicaciones inherentes al acto quirúrgico ni postoperatorias. Existen varias modalidades de tratamiento para deformidades angulares en fémur distal y el escoger una depende de la preferencia, entrenamiento del cirujano, su equipo y recursos disponibles(AU)

Angular deformities in distal femur are frequently in the orthopedic clinic, the most common of which is valgus and is characterized by an alteration of the mechanical lateral distal femoral angle (<85º). Depending of the type of deformity and the patient age at which it occurs, there are different surgical techniques correction to improve the biomechanics of the knee, avoid pain and prevent damage to the extensor apparatus, early osteoarthritis and late degeneration of the knee joint. An observational, descriptive, longitudinal study was carried out using the LCP System as a treatment for angular deformities in the Distal Femur in patients with reached skeletal maturity treated at the Hospital Ortopédico Infantil during the period 2012-2022. A total of 17 patients were included, representing 23 knees; the female predominated with 76% compared to the male with only 24%. The average age of surgical intervention was 15±1.66 years and the age of the final evaluation was 16±1.7 years. When comparing the averages of the pre and postoperative radiological evaluation, statistically significant differences <0.05 were found in terms of the correction of the Mechanical Axis Deviation (MAD), mechanical Lateral Distal Femoral Angle (LDFAm) and Femoro-Tibial angle ( AFT). The average consolidation time was 11.3 ± 1.4 weeks and there were no complications inherent to the surgical act or postoperative. There are several treatment modalities of angular deformities of the distal femur and the choice one depends of the preference and training of the surgeon, his team and the resources available(AU)

Crecimiento guiado en extremidades inferiores / Guided growth in lower extremities

El crecimiento guiado es una opción quirúrgica de uso creciente para la corrección de las deformidades angulares de extremidades inferiores en pacientes esqueléticamente inmaduros. Es posible de realizar en múltiples planos o segmentos, con excelentes resultados. Su uso más frecuente es en deformidades del plano coronal alrededor de la rodilla. La epifisiodesis permanente se puede realizar en pacientes dentro de los dos años previos al término del crecimiento longitudinal del segmento a tratar, considerando la epifisiodesis temporal para los pacientes con más de 2 años de crecimiento restante.En casos leves a moderados las tasas de éxito llegan incluso al 100% en algunas series, en tanto, pacientes con enfermedad de Blount, obesidad, edad esquelética avanzada o deformidades severas, tienen menos posibilidades de lograr una corrección completa.Independientemente de la técnica quirúrgica, es necesario una adecuada planificación preoperatoria, educación familiar y un seguimiento estricto para así minimizar las complicaciones y permitir una excelente corrección de la deformidad con una morbilidad mínima.

Guided Growth is a surgical option of increasing use for the correction of angular deformities of the lower extremities in skeletally immature patients. It is possible to perform in multiple planes or segments, with excellent results. Its most frequent use is in deformities of the coronal plane around the knee. Permanent epiphysiodesis can be performed in patients within 2 years before the end of longitudinal growth of the segment to be treated, considering temporary epiphysiodesis for patients with more than 2 years of remaining growth.In mild to moderate cases, the success rates reach even 100% in some series, while patients with Blount's disease, obesity, advanced skeletal age or severe deformities are less likely to achieve a complete correction.Regardless of the surgical technique, adequate preoperative planning, family education and strict follow-up are necessary to minimize complications and allow excellent correction of the deformity with minimal morbidity

Problemas rotacionales de las extremidades inferiores en niños y adolescentes / Rotational problems of lower limbs in children and adolescents

Las deformidades torsionales de las extremidades inferiores corresponden a una de las causas de visita más frecuente al ortopedista infantil. En la mayoría de los casos, estas consultas son innecesarias, pues se trata de condiciones normales del esqueleto en desarrollo, que suelen corregir espontáneamente. El médico no especialista debe estar familiarizado con los cambios fisiológicos que ocurren en las extremidades inferiores del niño, de manera de identificar aquellos casos severos o aquellos que producen alteraciones funcionales.Estas deformidades, pueden ocurrir en cualquier nivel, desde la pelvis a los pies, por lo que un examen físico sistemático permitirá identificar la causa y proponer un tratamiento de acuerdo a los hallazgos. El único tratamiento eficaz, cuando la situación lo requiere, es la cirugía ortopédica. El uso de plantillas, calzado ortopédico y órtesis no cumplen ninguna función en el manejo de estas alteraciones

Torsional deformities of lower limbs are one of the most frequent causes to visit a pediatric orthopedic surgeon. In most cases, these are unnecessary, as they represent a normal stage of the developing skeleton, which usually correct spontaneously. The nonspecialist physician must be familiar with the physiological changes that occur in children's lower limb, in order to identify those cases that are severe, or cause functional disabilities.These deformities can occur at any level, from the pelvis to the feet, so a systematic physical examination will allow the cause to be identified and treated to be proposed according on to the findings. The only effective treatment, when the situation requires it, is orthopedic surgery. The use of insoles, orthopedic footwear, and orthoses have no role in the management of these alterations

Does the Presence of Clubfoot delay the Onset of Walking? / A presença do pé torto congênito atrasa o início da marcha?

Abstract Objective Congenital clubfoot (PTC) is a congenital orthopedic condition often requiring intensive treatment; little is known about the impact of such treatment on motor development. The present study assessed whether gait development is later in patients with PTC treated with the Ponseti method in comparison to a control group and analyzed possible related factors. Methods Patients born at term, < 6 months old, not submitted to previous treatment and with a minimum follow-up period of 24 months were included. The control group consisted of patients with no musculoskeletal disorders seen during the present study. Results The study group consisted of 97 patients, whereas the control group had 100 subjects. The mean age at gait start was 14.7 ± 3.2 months in the study group and 12.6 ± 1.5 months in the control group (p< 0.05). Factors related to late gait included age at beginning of treatment > 3 weeks, number of plaster cast changes > 7, recurrence and nonperformance of Achilles tenotomy. Age at beginning of treatment > 3 weeks was related to a greater number of plaster cast changes. Gender and laterality were not related to late gait development. Conclusion Congenital clubfoot patients treated with the Ponseti method show independent walking approximately 2 months later than the control group. Delayed treatment, higher number of plaster cast changes, recurrence and nonperformance of Achilles tenotomy were related to late gait.

Resumo Objetivo O pé torto congênito (PTC) é uma das alterações ortopédicas congênitas que mais frequentemente necessita tratamento intensivo, e pouco se sabe o impacto desse tratamento no desenvolvimento motor. O presente estudo buscou avaliar se pacientes portadores de PTC tratados pelo método de Ponseti desenvolvem a marcha mais tardiamente comparado a um grupo controle e analisar possíveis fatores relacionados. Métodos Incluídos pacientes nascidos a termo, com < 6 meses de idade, sem tratamento prévio e com seguimento mínimo de 24 meses. O grupo controle foi de pacientes sem alterações musculoesqueléticas, atendidos no mesmo período da realização do presente estudo. Resultados Um total de 97 pacientes formaram o grupo de estudo e 100 o grupo controle. A média de idade no início da marcha no grupo de estudo foi de 14,7 ± 3,2 meses, e 12,6 ± 1,5 meses (p< 0,05) no grupo controle. Fatores relacionados à marcha tardia foram: idade de início do tratamento > 3 semanas, número de trocas gessadas > 7, recidiva e não realização da tenotomia de Aquiles. Idade de início do tratamento > 3 semanas esteve relacionada a maior número de trocas de gessos. Gênero e lateralidade não tiveram relação com a marcha tardia. Conclusão Pacientes com PTC tratados com o método de Ponseti apresentam marcha independente aproximadamente 2 meses mais tarde do que o grupo controle. Início mais tardio do tratamento, maior número de trocas de gessos, recidiva e não realização da tenotomia de Aquiles foram relacionados com atraso da marcha.

Genu Valgo: un reto inquientante para el ortopedista / Cómo se pronuncia Genu Valgo: a disturbing challenge for the orthopedist

Genu valgo es una deformidad común en la infancia. La mayoría mejora espontáneamente al ángulo femorotibial del adulto normal antes de los ocho años. Ocasionalmente, las deformidades se extienden más allá del límite fisiológico para producir síntomas que pueden ser de origen idiopático o estar relacionados con trastornos de la formación de la placa de crecimiento o hueso. Puede haber dolor y limitación de la actividad.

Genu valgum, known as "knock-knee", is a common deformity in childhood. Most improve spontaneously to the normal adult femoro-tibial angle before age eight. Occasionally, the deformities extend beyond the physiological limits to cause symptomatology. These cases may be of idiopathic origin or be related to disorders of growth plate or bone formation. Pain and limitation of activity may occur.

Pectus excavatum e assimetrias mamárias: correção com mamoplastia de aumento / Pectus excavatum and breast asymmetry: correction with breast augmentation

Introdução: O pectus excavatum é definido com uma depressão aproximando o esterno e as cartilagens costais à coluna vertebral. Existem diversas teorias em relação à etiologia; a mais aceita consiste no crescimento exagerado das cartilagens costais, causando um deslocamento posterior do esterno e consequente depressão. Dentre as formas de tratamento, encontra-se a correção das assimetrias mamárias utilizando próteses mamárias de silicone em pacientes sem sintomas cardiopulmonares, apenas com queixa estética. Métodos: Foram revisados os registros em prontuários e registros fotográficos de oito casos de pacientes femininas com diagnóstico de pectus excavatum operadas em um hospital privado na região Sul do Brasil, que procuravam o serviço com queixas estéticas locais, e não apresentavam queixas cardiorrespiratórias. Resultados: Seis casos foram submetidos somente à inclusão de prótese mamária. Uma paciente havia colocado prótese havia 15 anos, sendo essa substituída por novo implante, no mesmo plano. Outra paciente já havia realizado cirurgia de correção de pectus descrito por Nuss, 10 anos antes, vindo a consulta com queixa de hipomastia e assimetria. O tipo anestésico preferido foi a anestesia geral, em cinco dos casos. O plano de inclusão de prótese na quase totalidade dos casos foi o subglandular. Somente uma paciente apresentou complicação (seroma). Conclusões: Evidenciamos, na nossa amostra, que a inclusão de prótese mamária em pacientes com pectus excavatum é capaz de trazer resultados estético harmônicos, atenuando e/ou mascarando o defeito torácico, com resultados estéticos satisfatórios para os pacientes.

Introduction: Pectus excavatum is defined as a depression approaching the sternum and costal cartilages to the spine. Several theories explain its etiology, the most accepted of which is the exaggerated growth of the costal cartilages, which causes a posterior displacement of the sternum and consequent depression. The treatment includes correction of breast asymmetries by using silicone breast implants in patients without cardiopulmonary symptoms, only with esthetic complaints. Methods: We reviewed the medical and photographic records of eight female patients diagnosed as having pectus excavatum, who underwent operation at a private hospital in the southern region of Brazil. These women sought consultation for local esthetic complaints and had no cardiorespiratory complaints. Results: Six patients submitted only for breast prosthesis placement. One patient had a prosthesis implanted 15 years before, which was replaced by a new implant in the same plane. Another patient had undergone pectus repair with Nuss surgery 10 years before, and the patient came to the hospital with a complaint of hypomasty and asymmetry. The preferred anesthesia was general anesthesia in five of the cases. The prosthesis inclusion plane in almost all the cases was subglandular. Only one patient had a complication (seroma). Conclusions: In our sample, the placement of breast prostheses in the patients with pectus excavatum brought harmonic esthetic results, attenuating and/or masking the chest defect, with satisfactory esthetic results for the patients.

Diagnóstico ecográfico prenatal de sirenomelia: a propósito de un caso / Prenatal ultrasound diagnosis of Sirenomelia: about a case

RESUMEN La sirenomelia constituye una anomalía congénita rara. Su incidencia es de 1:60.000 nacidos vivos. Es causada por un defecto vascular disruptivo y caracterizado por la fusión de las extremidades inferiores, asociados a anomalías cardiacas, renales, de pared abdominal y torácica, vértebras inferiores, tubo digestivo inferiores, genitales y de las arterias umbilicales. Se presenta la experiencia de un caso de sirenomelia que se ha podido diagnosticar con la ecografia prenatal.

ABSTRACT Sirenomelia is a very rare congenic anomaly. Being its incidence of approximately 1:60.000 live born, caused by a vascular disruptive defect, characterized by the fusion of lower limbs, associated to cardiac, renal, abdominal wall, and thoracic anomalies; also characterized by inferior vertebrae, inferior digestive tract, genital and umbilical artery anomalies A case of sirenomelia has been diagnosed thanks to prenatal echography.

Aplasia congênita da cútis em membros inferiores: relato de caso / Aplasia cutis congenita on the lower limbs: a case report

INTRODUÇÃO A Aplasia Congênita da Cútis (ACC) é uma doença rara caracterizada pela ausência de uma parte da pele ao nascimento, seja em área localizada ou generalizada. A incidência é de 0,1 a cada 100.000 nascimentos, tendo como acometimento principal o couro cabeludo, ocorrendo de forma isolada nesta localização em 60% dos casos. As causas não são claras, mas fatores genéticos, teratógenos (álcool, cocaína, maconha, heroína, misoprostol, metimazol, carbimazol, herpes simples congênito, varicela congênita, etc.), comprometimento da irrigação sanguínea para a pele, trauma, bandas amnióticas e desordens cromossômicas (trissomia do 13) estão associados com as lesões. RELATO DO CASO: Paciente do sexo feminino, nascida de parto vaginal com 36 semanas e três dias, e peso adequado para a idade gestacional. Referenciada ao nosso serviço após sete dias de nascimento, constando ausência total do tegumento cutâneo em ambas as pernas, com acometimento de aproximadamente 17% da superfície corpórea, segundo a tabela de queimados de Lund e Browder. A má formação consistia na ausência total de pele e tecido celular subcutâneo. Face a extensão e localização da lesão, optou-se pelo tratamento por enxerto de pele parcial, permitindo, dessa forma, preencher a totalidade do defeito. CONCLUSÃO: Devido à raridade da ACC e ao pequeno número de pacientes nas séries publicadas na literatura, a padronização do tratamento ainda é incipiente e o que existe são recomendações. Ainda são necessários estudos que abordem desde a etiologia da doença até a avaliação dos métodos de tratamento.

INTRODUCTION Aplasia cutis congenita (ACC) is a rare disease characterized by the absence of a part of the skin at birth that may be either localized or widespread. The incidence of this disease is 0.1 per 100,000 births. It mainly involves the scalp alone in 60% of the cases. The causes are unclear; however, genetic factors, teratogens (alcohol, cocaine, marijuana, heroin, misoprostol, methimazole, carbimazole, congenital herpes simplex, congenital varicella, and others), impaired blood supply to the skin, trauma, and amniotic band and chromosomal disorders (trisomy 13) are associated with the wounds. CASE REPORT: A female patient was delivered vaginally at 36 weeks 3 days of gestation, with appropriate weight for the gestational age. She was referred to our service after 7 days of birth, presenting total absence of skin integument on both legs, with impairment of approximately 17% of the body surface according to the Lund and Browder chart. The malformation consisted of the total absence of skin and subcutaneous tissue. Given the extent and localization of the wound, treatment with a partial skin graft was elected, thereby filling the totality of the defect. CONCLUSION: Owing to the rarity of ACC and the small number of patients in the series published in the literature, standardization of treatment is still incipient. Currently, only recommendations are available. Further studies are needed in order to investigate the etiology of the disease and to evaluate treatment methods.

Retalho de Bernard-Webster para reconstrução do lábio inferior após exérese de carcinoma espinocelular: uma análise dos resultados funcionais / Use of Bernard-Webster flap for lower lip reconstruction after excision of squamous cell carcinoma: analysis of functional results

INTRODUÇÃO Defeitos dos lábios inferiores após exéreses de carcinoma espinocelular (CEC) vêm sendo reparados com inúmeras técnicas cirúrgicas. No entanto, a reconstrução funcional de defeitos de espessura total do lábio inferior continua a ser um desafio. O objetivo deste estudo, portanto, foi descrever as estratégias cirúrgicas para a reconstrução de defeitos de espessura total do lábio inferior, subsequentes a exéreses cirúrgicas de CEC, bem como avaliar resultados funcionais. MÉTODO: Trata-se de um estudo retrospectivo de todos os pacientes com defeitos de espessura total de lábio inferior após exérese de CEC maiores que um terço do lábio, reconstruídos com retalhos de Bernard-Webster, no período de 2011 a 2014. Os resultados funcionais (funções esfincteriana, motora e sensorial) foram avaliados de acordo com critérios previamente utilizados. RESULTADOS: Seis defeitos labiais foram reconstruídos com retalhos de Bernard-Webster, sem complicações. No período pós-operatório, os pacientes relataram incontinência para líquidos (16,67%), incontinência salivar intermitente (16,67%) e dificuldade para abrir a boca completamente (33,33%). Os testes revelaram déficits sensoriais nas regiões mentoniana (100%) e de lábio inferior (33,33%). Houve recuperação completa de todas as alterações funcionais, em média, três meses após as intervenções cirúrgicas. Os resultados funcionais tardios foram considerados satisfatórios. CCONCLUSÕES: O retalho de Bernard-Webster mostrou-se uma excelente alternativa para reparar defeitos que comprometem mais de um terço do lábio inferior, pois permitiu a utilização de tecidos vizinhos semelhantes, pôde ser realizado em tempo único e foi funcionalmente eficaz.

INTRODUCTION Defects in the lower lips after the excision of squamous cell carcinoma (SCC) are usually repaired using several surgical techniques. However, the functional reconstruction of full-thickness defects in the lower lip remains a challenge. Therefore, the objectives of this study were to describe surgical strategies for the reconstruction of full-thickness defects of the lower lip after surgical excision of the SCC and evaluate the functional results. METHODS: This was a retrospective study of all patients with full-thickness defects in the lower lip after excisions of SCC that were greater than one third of the lip that were repaired using the Bernard-Webster flap between 2011 and 2014. The functional results (sphincteric, motor and sensory function) were evaluated according to previously used criteria. RESULTS: Six lip defects were reconstructed without complications using Bernard-Webster flaps. During the postoperative period, the patients reported liquid incontinence (16.67%), intermittent salivary incontinence (16.67%), and difficulty fully opening the mouth (33.33%). The tests revealed sensory deficits in the labiomental areas (100%) and lower lip (33.33%). There was full recovery of all functional changes an average of 3 months after surgery. The observed late functional results were considered satisfactory. CONCLUSIONS: The Bernard-Webster flap was an excellent alternative to repairing the defects that affect more than one third of the lower lip since it allowed the use of similar local tissues, a single surgery could be performed, and the result was functionally efficient.

Hemimelia fibular: presentación de un caso / Fibular Hemimelia: A Case Report

La hemimelia fibular es la malformación más común de huesos largos, con una incidencia entre 7,4 y 20 casos por cada millón de recién nacidos vivos. Puede ser un hallazgo sindrómico o esporádico y la deficiencia puede ser parcial o completa. Hay diferentes clasificaciones, dependiendo de los hallazgos radiológicos, de las características funcionales y de los segmentos faltantes asociados. La etiología no se entiende completamente y la mayoría de las veces la causa precisa permanece desconocida. En esta presentación de caso, presentamos un niño de 6 meses, sin antecedentes familiares, con aplasia fibular bilateral y ausencia de los metatarsianos y falanges del cuarto y el quinto artejos de las dos extremidades, con desarrollo psicomotor normal y sin otras anomalías asociadas. Se describen los hallazgos radiológicos encontrados en este paciente y se revisa el tema, haciendo énfasis en las clasificaciones más usadas, con el objetivo de estandarizar la terminología que puede ser útil en la práctica radiológica.

Fibular hemimelia is the most frequent long bone malformation, with an frequency ranging between 7,4 and 20 cases per one million newborns. It can be a syndromic or a sporadic finding, and its deficiency can be either total or partial. Different classifications exist depending on radiological findings, functional features, and associated absent segments. Its etiology is not fully understood. In most cases, the exact cause is unknown. In this case report, we present a 6-month old boy without a family history of illness with bilateral fibular aplasia and agenesis in the third and fourth metatarsals and in the phalanges of both limbs. The patient has had a normal psychomotor development and did not suffer from any other anomalies. We will describe the radiological findings of this patient. We will also review the literature, emphasizing the more common classifications in order to standardize the terminology which can be useful in radiological practice.

Utilidad de la hemiepifisiodesis en el manejo del Genu Valgo en la osteodistrofia renal / Usefulness of hemiepiphysiodesis for the management of Genu valgum in renal osteodystrophy

Introducción: La osteodistrofia renal provoca desejes progresivos en los miembros inferiores, siendo la deformidad más frecuente el genu valgo. El crecimiento guiado (hemiepifisiodesis) es útil en la corrección de deformidades angulares en la edad pediátrica. El objetivo de este trabajo es evaluar los resultados y complicaciones de esta técnica quirúrgica aplicada a fisis patológicas. Materiales y métodos: Se presentan 11 pacientes (20 rodillas) con diagnóstico de insuficiencia renal crónica y genu valgo, tratados en nuestro servicio con hemiepifisiodesis transitoria. Se colocaron placas en 8 en 3 pacientes (5 rodillas) y en 8 pacientes, grapas (15 rodillas). Se evaluó el eje mecánico radiográfico pre y post operatorio y las complicaciones relativas a cada implante. Resultados: Se logró la corrección completa en 4 pacientes, 1 caso sobrellevó deformidad rebote, y en los restantes se obtuvo mejoría sin llegar a la normalización óptima del eje mecánico. Conclusiones: La corrección obtenida se relaciona claramente con la normalidad de la función renal. Los pacientes trasplantados consiguieron normalización en el crecimiento óseo remanente. No tuvimos diferencia en los resultados ni en las complicaciones entre los dos tipos de implantes empleados.

Anormalidades de membros na trissomia do cromossomo 18: evidência para o diagnóstico precoce / Limb abnormalities on trisomy 18: evidence for early diagnosis

OBJETIVO: Verificar a frequência e os tipos de anormalidades de membros observadas entre pacientes com trissomia do cromossomo 18, ou síndrome de Edwards (SE). MÉTODO: A amostra foi constituída de pacientes consecutivos avaliados por um serviço de genética clínica no período entre 1975 e 2008. O resultado da análise citogenética, bem como os dados clínicos, foram coletados a partir dos prontuários médicos, dando-se ênfase aos seus achados de membros. Todos foram submetidos ao exame de cariótipo no mesmo laboratório. RESULTADOS: No período de avaliação, foram identificados 50 pacientes, 33 deles (66%) do sexo feminino, com idade na primeira avaliação variando de 1 dia a 16 anos (mediana de 14 dias). A linhagem única com trissomia livre do cromossomo 18 foi a alteração cromossômica predominante (90%). Mosaicismo foi verificado em 10% dos casos. A anormalidade predominante de membros superiores observada na amostra (n = 50) foi o punho cerrado com sobreposição dos dedos (70%). Outras alterações frequentes incluíram a prega palmar única (42%) e a hipoplasia das unhas (36%). Anormalidades radiais foram observadas em 11 pacientes (22%). Quanto aos membros inferiores, a hipoplasia de unhas foi a alteração mais comum (58%), seguida do pé em mata-borrão com calcâneo proeminente (50%). Um dos pacientes possuía ainda ectrodactilia unilateral. CONCLUSÕES: Apesar da descrição clássica, as anormalidades de membros podem ser bastante variáveis na SE. Alguns pacientes podem ainda apresentar alterações não usuais, como defeitos radiais e ectrodactilia. Esses achados são de extrema importância para a suspeita e a identificação clínica precoce dos pacientes com a SE.

OBJECTIVE: To assess the frequency and types of limb abnormalities observed among patients with trisomy 18, or Edwards syndrome (ES). METHOD: The sample consisted of consecutive patients evaluated by a clinical genetics service in the period from 1975 to 2008. The results of the cytogenetic analysis, as well as the clinical data were retrieved from the medical records, with special attention to limb abnormalities findings. All the karyotype analysis was performed at the same laboratory. RESULTS: During the study period, 50 patients were identified, 33 (66%) of them females, with ages at the first evaluation ranging from 1 day to 16 years (median 14 days). The single lineage with free trisomy 18 was the most frequent chromosomal disorder (90%). Mosaicism was observed in 10% of the cases. Clenched fist with overlapping fingers was the predominant anomaly of the upper limbs (70%). Other common disorders included the single palmar crease (42%) and hypoplastic nails (36%). Radial abnormalities were found in 11 patients (22%). As for the lower limbs, hypoplastic nails were the most common abnormality (58%), followed by the rocker bottom foot with prominent calcaneus (50%). One patient had unilateral ectrodactyly as well. CONCLUSIONS: Despite the classical description, limb anomalies can be much variable in ES. Some patients may show unusual abnormalities, such as radial defects and ectrodactyly. These findings are extremely important for the clinical suspicion and early identification of patients with ES.

A Familial Case with Holt-Oram Syndrome with a Novel TBX5 Mutation

Holt-Oram syndrome (HOS) is the most common heart-hand syndrome, which is inherited in an autosomal dominant manner, but most cases are sporadic. This condition is characterized by upper-extremity malformations involving radial-ray, thenar, and carpal bones, and congenital heart malformations including atrial septal defect and ventricular septal defect. It is caused by mutations in the TBX5 gene. In this report, a Korean case with HOS is described, which is inherited from her father. A novel nonsense mutation, p.Glu294*, was identified. This is the first Korean case with HOS confirmed by genetic testing.

A Familial Case with Holt-Oram Syndrome with a Novel TBX5 Mutation

Holt-Oram syndrome (HOS) is the most common heart-hand syndrome, which is inherited in an autosomal dominant manner, but most cases are sporadic. This condition is characterized by upper-extremity malformations involving radial-ray, thenar, and carpal bones, and congenital heart malformations including atrial septal defect and ventricular septal defect. It is caused by mutations in the TBX5 gene. In this report, a Korean case with HOS is described, which is inherited from her father. A novel nonsense mutation, p.Glu294*, was identified. This is the first Korean case with HOS confirmed by genetic testing.

Inclusion of calf implants for the correction of lower limb amyotrophy / Inclusão de implantes de panturrilha na correção das amiotrofias dos membros inferiores

BACKGROUND: Lower limb amyotrophy is a serious deformity that is often disabling and causes esthetic problems such as asymmetries and changes in the shape and contour of the legs. The present study evaluated the use of silicone implants for the correction of lower limb amyotrophy. METHODS: Women who underwent surgical correction of lower limb amyotrophy with silicone implants between 2002 and 2009 at the Plastic Surgery Service of Instituto Ivo Pitanguy at the 38th Nursing Service of Santa Casa da Misericórdia, Rio de Janeiro and at their associated services were retrospectively reviewed. RESULTS: Five cases were studied and the results were retrospectively assessed. Follow-up ranged from 3 months to 2 years after surgery until the last postoperative visit. In 4 of 5 patients, the desired result was obtained after a single surgical procedure, and no patient developed capsular contracture, compartment syndrome, circulatory disorders, neurological disorders, or infections. CONCLUSIONS: Calf augmentation in patients with lower limb amyotrophy did not correct the associated functional deficit, but resulted in a high level of satisfaction with regard to the esthetic improvement of the limb, thus improving the quality of life of these patients.

INTRODUÇÃO: As amiotrofias dos membros inferiores são deformidades por vezes incapacitantes, mas que trazem aos pacientes problemas estéticos, como assimetrias e alterações da forma e contorno das pernas. Este estudo teve como objetivo avaliar a aplicabilidade do uso de implantes de silicone para correção de amiotrofias de membros inferiores. MÉTODO: Estudo retrospectivo de pacientes, todas do sexo feminino, submetidas a correção cirúrgica de amiotrofia de pernas com a utilização de implantes de silicone, entre 2002 e 2009, no Serviço de Cirurgia Plástica do Instituto Ivo Pitanguy, na 38ª Enfermaria da Santa Casa da Misericórdia do Rio de Janeiro e em serviços associados. RESULTADOS: Foram analisados 5 casos. A maioria dos resultados foi avaliada de maneira retrospectiva. O tempo de acompanhamento variou de 3 meses a 2 anos, desde a cirurgia até a última consulta pós-operatória. Do total de pacientes, 4 apresentaram resultado desejado em apenas um procedimento cirúrgico e nenhuma paciente apresentou contratura capsular, síndrome compartimental, alterações circulatórias, alterações neurológicas ou infecção. CONCLUSÕES: O aumento das panturrilhas em pacientes portadoras de amiotrofias de membros inferiores não proporcionou modificações no tocante ao deficit funcional prévio. Todavia, essas pacientes, geralmente bastante castigadas pela doença de base, apresentam índice de satisfação muito elevado com a melhoria estética do membro, otimizando, dessa forma, a qualidade de vida dessas pacientes.

Síndrome de Richner-Hanhart e suas manifestações otorrinolaringológicas: relato de caso / Richner-Hanhart Syndrome and its otorhinolaryngologic manifestations: case report

INTRODUÇÃO: A Síndrome de Richner-Hanhart se caracteriza pela ausência em grau variável de porções distais de uma ou mais extremidades, associada à micrognasia e microglossia severa. A etiologia desta rara síndrome permanece desconhecida. RELATO DE CASO: Neste artigo relatamos o caso de um paciente com Síndrome de Richner-Hanhart que apresentava ausência de terço anterior da língua, micrognatia, malformações dos pododáctilos e quirodáctilos, de pés e mãos, além de desvio de septo nasal para esquerda. COMENTÁRIOS FINAIS: O tratamento consiste em dieta com restrição de tirosina e acompanhamento contínuo com otorrinolaringologista e fisioterapeuta.

INTRODUCTION: Richner-Hanhart Syndrome is characterized by the absence in a variable degree of distal portions of one or more extremities, in association with micrognathia and severe microglossia. The etiology of this infrequent syndrome remains unknown. CASE REPORT: In this article, we report the case of a patient with Richner-Hanhart Syndrome, who showed an absence of the back third of the tongue, micrognathia, malformation of fingers and toes, as well as nasal septum deviation to the left. FINAL COMMENTS: The treatment comprises a tyrosine-restricted diet together with a continuous follow-up with an otorhinolaryngologist and a physiotherapist.

Presentación de un caso con múltiples malformaciones congénitas: asociación VACTERL / A case with multiple congenital malformations: VACTERL association

La asociación VACTERL es un conjunto de malformaciones congénitas que ocurre en varias combinaciones, entre las cuales encontramos: malformaciones Vertebrales, atresia Anal, anomalías Cardiovasculares, fistula Traqueo esofágica, atresia Esofágica, malformaciones Renales y displasia de las extremidades (Limb), fundamentalmente en el hueso radial. Para su diagnóstico se requiere la presencia de, al menos, tres de los siete criterios enumerados y se realiza por medio de ecografía a partir de la semana 18 de gestación. Aun no se ha reconocido etiología específica para esta patología; se cree que es producto de una influencia teratogénica entre la cuarta y octava semana de gestación. El pronóstico de estos pacientes es muy pobre, ya que fallece el 50-85% de los niños en el primer año de vida, sobreviviendo después del primer año de vida solo un 12-15%.

VACTERL association is a group of birth defects occurring in various combinations, among which are: vertebral anomalies, anal atresia, cardiac defects, tracheo-oesophageal fistula with esophageal atresia, renal defects and limb dysplasia, mainly in the radial bone. To diagnostic is necessary at least three of the seven criteria listed and is performed by ultrasound after 18 weeks of gestation. Although no specific etiology has been recognized for this condition, is believed to be the result of undefined teratogenic influence acting between the fourth and eighth weeks of gestation. Prognosis for these patients is very poor, and who died on 50-85% of children in the first year and surviving after the first year of life only 12-15%.

Limb Angular Deformity Correction Using Dyna-ATC: Surgical Technique, Calculation Method, and Clinical Outcome

PURPOSE: Dyna-ATC is a unilateral external fixator with angulator, lengthener, and translator, which allows for angular correction and compensation of the secondary displacement during angular correction. The purpose of this study is to introduce surgical technique and calculation methods and to evaluate the clinical outcome of angular deformity correction using Dyna-ATC. MATERIALS AND METHODS: The amounts of secondary displacement were calculated with the distances between axis of correction of angulation, Center of Rotational Angulation, and osteotomy and the amount of angular deformity. The rate of angular correction was determined to distract the corticotomy at 1 mm/day. Clinical and radiographic evaluation was performed on 13 patients who underwent deformity correction using Dyna-ATC. There were 8 proximal tibia vara, 1 tibia valga, 2 varus and 4 valgus deformities on distal femur. One patient underwent pelvic support femoral reconstruction. Concomitant lengthening was combined in all femur cases. Mean age at surgery was 17.5 years (7 to 64). RESULTS: All but one achieved bony healing and normal alignment with the index procedure. Mean mechanical axis deviation improved from 31.9 mm to 3.0 mm. The average amount of angular correction was 11.0degrees on tibiae and 10.0degrees on femora. The average length gain on femora was 6.4 cm, and the healing index averaged to 1.1 mo/cm. One patient underwent quadricepsplasty and one patient had three augmentation surgeries due to poor new bone formation. CONCLUSION: We believe that Dyna-ATC is a useful alternative to bulky ring fixators for selective patients with angular deformity less than 30 degrees in the coronal plane around the knee joint.