Alargamiento óseo con minitutor externo como tratamiento de braquimetatarsianos / Bone lengthening with external mini-fixator as treatment for brachymetatarsals

Introducción: La braquimetatarsia es un acortamiento de algún metatarsiano, debido principalmente a una detención prematura del crecimiento de la fisis. Es más frecuente en mujeres, y afecta, sobre todo, al cuarto y al primer metatarsiano. El objetivo de este estudio fue evaluar los resultados del tratamiento mediante alargamiento óseo progresivo con minitutor externo. Materiales y Métodos: Estudio descriptivo retrospectivo. Serie de casos. Se analizaron los resultados de los pacientes operados con esta técnica en nuestro Centro. Se analizaron 6 casos, dos con braquimetatarsia bilateral. Todas eran mujeres y tenían braquimetatarsia del 4.° metatarsiano. El promedio de edad era de 14 años. Se evaluaron los siguientes aspectos: alargamiento en milímetros y complicaciones, como retraso de la consolidación, infección, luxación metatarsofalángica, articulación metatarsofalángica en flexión y satisfacción del paciente. Resultados: Se logró un alargamiento promedio de 15 mm. Dos pacientes tuvieron una infección superficial de las agujas. Una paciente evolucionó con luxación de la articulación metatarsofalángica; otra, con flexión de la articulación metatarsofalángica. No hubo complicaciones neurovasculares. Conclusiones: El alargamiento óseo guiado con tutor externo es un tratamiento seguro y eficaz, además lograría un largo mayor en milímetros que el alargamiento en un tiempo, con un mejor control del alargamiento de partes blandas y estructuras neurovasculares. Todas las complicaciones se resolvieron de manera simple, no afectaron el resultado final del tratamiento. Las complicaciones concuerdan con las descritas en la literatura internacional. Nivel de Evidencia: IV

Introduction: Brachymetatarsia is a shortening of any metatarsal bone, mainly due to premature growth arrest of the growth plate. It is more frequent in women, the fourth and the first metatarsal being the most affected bones. The aim of this study was to evaluate the outcomes of progressive bone lengthening with external mini-fixator. Methods: This is a retrospective, descriptive, case series study in which we analyzed the outcomes of all patients operated on with this technique in our Center. Six cases were evaluated, two of them presented bilateral brachymetatarsia. All patients were women, and had brachymetatarsia of the 4th metatarsal. The average age was 14 years. The following aspects were evaluated: lengthening in millimeters and presence of complications, such as delayed consolidation, infection, metatarsophalangeal joint dislocation, metatarsophalangeal joint in flexion and patient satisfaction. Results: On average, an increase of 15 mm was achieved. Two cases presented superficial infection at the needle insertion site. One patient progressed to metatarsophalangeal joint dislocation, and another one to metatarsophalangeal joint flexion. No neurovascular complications were observed. Conclusions: Bone lengthening with external fixator is a safe and effective treatment. A greater length in millimeters can be achieved in comparison to one-stage lengthening, as well as an improved soft-tissue neurovascular stretching. All complications resolved smoothly and did not affect final treatment results. Complications are similar to those described in the international literature. Level of Evidence: IV

O impacto da intervenção fisioterapêutica sobre o desempenho motor e equilíbrio de uma criança com diagnóstico de síndrome do pterígio poplíteo: estudo de caso / The impact of physical therapy intervention on motor performance and balance of a child diagnosed with popliteal pterygium syndrome: case report

A síndrome do pterígio poplíteo (SPP) é uma doença congênita rara cujo tratamento fisioterapêutico visa independência funcional. O objetivo deste estudo foi verificar o efeito de um plano fisioterapêutico sobre a amplitude de movimento, o desempenho motor e o equilíbrio de uma criança com SPP. Menina de 4 anos realizou um programa interventivo com 20 sessões de fisioterapia de 40 minutos cada, uma vez por semana. Para avaliação dos resultados do programa, foram utilizados a Escala de Desenvolvimento Motor, a Escala de Equilíbrio Pediátrica e o Teste de Goniometria Manual. Ao término do período interventivo, e após 1 mês, a criança foi reavaliada, constando-se incrementos no desempenho motor, no equilíbrio e na amplitude de movimento, principalmente na extensão de joelhos. Demais ganhos podem não ter sido alcançados devido à adaptação prévia da criança à sua condição. Os resultados apresentados evidenciam a contribuição da fisioterapia para a melhora da independência funcional e da qualidade de vida do paciente com SPP (AU)

Popliteal pterygium syndrome (PPS) is a rare congenital disease whose physical therapy (PT) treatment aims at functional independence. The objective of this study was to investigate the effect of a PT plan on range of motion, motor performance, and balance of a child with PPS. A 4-year-old girl underwent an interventional program with 20 PT sessions of 40 minutes each, once a week. The Motor Development Scale, the Pediatric Balance Scale, and the Manual Goniometry Test were used to evaluate the results of the program. At the end of the intervention period, and after 1 month, the child was reassessed, showing increases in motor performance, balance, and range of motion, especially in knee extension. Other gains may not have been achieved due to the child's prior adjustment to her condition. The results presented here emphasize the contribution of PT to the improvement of the functional independence and quality of life of patients with PPS (AU)

Reporte de caso de síndrome FATCO: aplasia fibular, campomelia de tibia y oligosindactilia / A case report of a patient with FATCO syndrome: fibular aplasia, tibial campomelia and oligosyndactyly

El síndrome FATCO, por las siglas en inglés de aplasia fibular (Fibular Aplasia), campomelia de tibia (Tibial Campomelia) y oligosindactilia (Oligosyndactyly), es un conjunto de malformaciones óseas, en las que la alteración se centra en los huesos de la pierna. Es una entidad rara y hay pocos casos descritos en la Literatura internacional, y, hasta ahora, no se ha descrito ningún caso en Colombia. Presentamos aquí el caso de un recién nacido de sexo masculino con signos clínicos de manera prenatal y posnatal consistentes con síndrome FATCO sin otras malformaciones asociadas. Exponemos también una breve discusión sobre las diferentes malformaciones óseas y otros casos de FATCO en el mundo.

The FATCO syndrome, (Fibular Aplasia, Tibial Campomelia and Oligosyndactyly) are bone malformations with main alteration in lower limbs. It is a rare entity and there are few cases reported in international literature, and so far there are not published cases in Colombia. Here we present a case of a male newborn with prenatal and postnatal signs consistent with FATCO syndrome without other organs malformations, and there is a brief discussion about this syndrome and other different malformations associated with it.

Macrodactilia: estudo retrospectivo de quatro casos / Macrodactyly: a retrospective study of four cases

INTRODUÇÃO: A macrodactilia é uma anomalia rara e de etiologia desconhecida. Os primeiros casos foram descritos, em 1821, por Klein. Representa aproximadamente 1% de todas as anomalias congênitas. Surge no nascimento e caracteriza-se pelo crescimento dos dedos das mãos, dos pés ou de todo o membro; entretanto, pode se apresentar mais tardiamente, com os sintomas de compressão de nervo, podendo associar-se à síndrome do túnel do carpo. MÉTODOS: Estudo retrospectivo de quatro casos de macrodactilia atendidos no Hospital da Santa Casa Misericórdia de Campo Grande, MS, nos últimos 10 anos. RESULTADOS: Descrevemos quatro casos de macrodactilia, sendo três em quirodáctilos e um acometendo primeiro pododáctilo. Todos os pacientes tratados com procedimentos cirúrgicos, um dos casos com amputação de falanges e metacarpo. CONCLUSÕES: É recomendada a amputação como opção cirúrgica em alguns casos e o tratamento precoce da síndrome do túnel do carpo quando presente.

INTRODUCTION: Macrodactyly is a rare anomaly of unknown etiology. The first cases were described in 1821 by Klein. It represents approximately 1% of all congenital anomalies. It appears at birth and is characterized by excessive growth of the fingers, toes, or of the entire limb; however, its appearance may be delayed, with symptoms of nerve compression, and may present with carpal tunnel syndrome. METHODS: Retrospective study of four cases of macrodactyly treated at the Hospital da Santa Casa Misericórdia in Campo Grande, MS, in the last 10 years RESULTS: We describe four cases of macrodactyly: three in the fingers and one affecting the first toe. All patients were treated with surgical procedures, one with amputation of phalanges and metacarpals. CONCLUSIONS: Amputation is a surgical option recommended in some cases, as is the early treatment of carpal tunnel syndrome.

Identification of p.Glu131Lys Mutation in the IHH Gene in a Korean Patient With Brachydactyly Type A1

No abstract available.

Pie en espejo / Mirror foot

Paciente masculino de 79 años de edad, el cual presenta en el miembro inferior izquierdo a nivel del pie una malformación congénita que corresponde a un pie en espejo, representado por 9 artejos, articulados en 8 metatarsianos, pie zambo, seudoartrosis alta de la tibia y luxación congénita alta del peroné. Es inusual encontrar esta deformidad en el momento actual.

Here is a 79 years-old patient who had in his left foot a congenital malformation called mirror foot, which is represented by 9 knuckles articulated in 8 metatarsals, knock-kneed foot, upper pseudoarthrosis of the shinbone and upper congenital luxation of the fibula. The presentation of this type of deformity is unusual today.

Ellis van Creveld: reporte de caso / Ellis van Creveld: Case report

Introduction: Ellis-van Creveld (EVC) (OMIM # 225500) syndrome is a rare skeletal dysplasia disorder transmitted by autosomal recessive inheritance. The diagnosis is made based on phenotypic characteristics such as chondrodysplasia, heart defects and polydactyly. The prognosis depends mainly on the severity of the disease, diagnosis and comprehensive management of the condition. Objective: To describe a patient diagnosed with EVC syndrome. Case report: Newborn diagnosed with EVC syndrome who presented dysmorphic facies, shortened long bones, rhizomelic shortening, small hands, brachydactyly, single transverse palmar crease, postaxial polydactyly in the upper limbs, bilateral preaxial polysyndactyly in lower limbs and hypoplastic nails, complex heart defects and narrow thorax. The evolution was unfavorable; the patient died 8 weeks after birth from complications due to heart defects. Conclusions: EVC syndrome is rare and unknown; therefore, it is important to spread its characteristics within the pediatric community, emphasizing that it affects multiple organ systems and requires a multidisciplinary approach to treat individually each patient, to provide genetic and reproductive counseling to couples and to give information regarding child development expectations.

Introducción: El síndrome Ellis-van Creveld (EVC) (OMIM #225500) es una displasia esquelética rara de herencia autosómica recesiva, cuyo diagnóstico se realiza por sus características fenotípicas como la condrodisplasia, cardiopatía y polidactilia. El pronóstico depende fundamentalmente de la severidad de la cardiopatía, al igual que del diagnóstico y manejo integral oportunos. Objetivo: Caracterizar un paciente con diagnóstico clínico de Síndrome de EVC, cuya baja frecuencia dificulta el correcto diagnóstico en pediatría. Caso clínico: Recién nacido con facies dismórfica, extremidades con huesos largos cortos, acortamiento rizomélico, manos pequeñas, braquidactilia, pliegue palmar único, polidactilia post axial en miembros superiores, polisin-dactilia preaxial bilateral en miembros inferiores y uñas hipoplásicas, cardiopatía compleja y tórax estrecho, en el que se concluyó un diagnóstico clínico de EVC. La evolución fue desfavorable, falleciendo a las 8 semanas de nacimiento por complicaciones secundarias a la cardiopatía. Conclusiones: El síndrome de EVC es de baja frecuencia y poco conocido, por lo que es importante difundir sus características en la comunidad pediátrica, haciendo énfasis en que al afectar múltiples sistemas y órganos, requiere un manejo multidisciplinario con el objetivo de intervenir en la patología individualizando cada paciente; además de consejería genética y reproductiva a las parejas, e información de las expectativas del desarrollo del niño.

A rare anomaly of the foot presented as polydactyly.

Presence of one or more digit is called as polydactyly and may manifest singly or with other genetic disorders. The frequency of polydactyly varies widely among populations. It can occur as an isolated condition or as a feature of a congenital condition. Polydactyly is a rare condition, but still rare is in form of triple great toes. We describe a case in a 4‑year‑old child diagnosed as triphalangism foot with no other obvious visible anomaly. Osteoplasty‑combined surgery, which was ideal for anatomical reconstruction. In a 16‑month follow‑up period child recovered very well.

Macrodistrofia lipomatosa: reporte de un caso / Macrodystrophia lipomatosa: a case report

Macrodystrophia lipomatosa (ML), is a Rare cause of non-hereditary localized gigantism, due to the progressi-ve proliferation of mesenchymal tissue, with a disproportionate increase of fibroadipose tissue in one or more digits of the affected extremity. This congenital abnormality occurs more frequently in the distribution of the median nerve (arm) and plantar nerve (leg). Etiology is uncertain, and it is frequently misdiagnosed as another cause of macrodactylia. This paperõreports a case of a 6 y.o. boy who presented overgrowth of the lst and 2nd digit of the right foot, and slight increase of the 3rd digit in the other foot. A multidisciplinary evaluation was performed, corresponding to the second case reported in Venezuela.

La Macrodistrofia lipomatosa (ML), es una causa infrecuente de gigantismo localizado, no hereditario caracterizado por proliferación progresiva de todos los elementos mesenquimáticos, con un incremento desproporcionado en el tejido fibroadiposo en uno o más dedos de la extremidad afectada. Esta anormalidad congénita ocurre más frecuentemente en la distribución del nervio mediano en el miembro superior y nervio plantar en el miembro inferior. La etiología de la ML es incierta y es una entidad clínica que con frecuencia es diagnosticada erróneamente como otras formas de macrodactilia. Reportamos el caso de un escolar de 6 años de edad quien presentó sobrecremiento de 1º y 2º ortejo del pie derecho y leve aumento del 3º ortejo del pie contralateral. Esta paciente fue evaluada de forma multidisciplinaria en nuestra institución y corresponde al segundo caso de MLõreportado en Venezuela.

Rathke's cleft cyst and partial feet adactyly: an unusual association

A 53 year-old woman presented a recurrent bifrontal headache of 2 years duration and bilateral progressive visual disturbance. The clinical and neurological examination showed a bilateral feet adactyly and bitemporal hemianopsia. The brain MRI demonstrated a Rathke's cleft cyst. The patient was operated by a transnasal endoscopic approach. It seems that this unusual association has never been described before.

Mulher de 53 anos com história recorrente de cefaléia com duração de 2 anos bilateral e progressiva, acompanhada de distúrbios visuais. O exame clinico e neurológico mostrou uma adactilia dos pés e hemianopsia bitemporal. A ressonância nuclear magnética cerebral mostrou um cisto de Rathke. A paciente foi operada por via transnasal endoscópica. Aparentemente esta é a primeira vez que esta associação é descrita na literatura.

Jaw cyst-Basal cell nevus-Bifid rib syndrome: a case report.

Jaw cyst-Basal cell nevus-Bifid rib syndrome or Gorlin-Goltz syndrome involves multiple organ system. The most common findings include multiple odontogenic keratocysts in the jaws and basal cell nevus on the skin that have an early age onset. These multiple odontogenic keratocysts warrant aggressive treatment at the earliest because of the damage and possible complications associated with them. Recurrence in these lesions is the most characteristic feature that has to be taken in consideration while explaining the prognosis to the patient. A case report of a child affected with Gorlin-Goltz syndrome diagnosed, treated and followed at this hospital is presented here.

Plastia de Lapidus en el tratamiento quirúrgico del quinto ortejo supra aducto / Lapidus procedure for treatment of overlapped fifth toe

The varus fifth toe pathology, in spite of its relative frequency and clinical relevance, has been barely studied in relation to the treatment results. 28 overlapped fifth toes operated according to the Lapidus Technique were evaluated retrospectively, corresponding to 17 patients, age average 28 years, opered since year2003. The minimum follow up time was 6 months. The surgical technique consisted on a dorsal approach in "italic s" on the 5° metatarsophalangic joint, capsulotomy and transference of the EDL to the digiti quinti abductor. Preoperative Hallux Metatarsophalangeal-lnterphalangeal AOFAS Scale average was 88,1 and varied to 99,4 points to the six months of pursuit. 100% of the patients showed complete satisfaction with the result. Only 2 patients presented minor postoperative complications (wound infection and dehiscence), which were handled ambulatory. Lapidus Procedure is a safe procedure and effective in the correction of overlapping fifth toe.

La patología del 5° ortejo varo, a pesar de su relativa frecuencia y relevancia clínica ha sido escasamente estudiada en relación a los resultados de tratamiento. Se evaluaron retrospectivamente 28 quintos ortejos supra aducto flexibles operados según la técnica de Lapidus, correspondientes a 17 pacientes, edad promedio 28 años, operados desde el año 2003. El seguimiento mínimo fue de 6 meses. La técnica quirúrgica consistió en abordaje dorsal en "s" itálica sobre la 5° articulación metatarsofalángica, capsulotomía y transferencia del EDL al abductor digiti quinti. El promedio de la Escala AOFAS para antepie preoperatoria fue de 88,1 y varió a 99,4 puntos a los seis meses de seguimiento. 100 por ciento pacientes mostraron satisfacción completa con el resultado. Sólo 2 pacientes presentaron complicaciones menores posoperatorias (infección de la herida y dehiscencia) que se manejaron ambulatoriamente. La plastia de Lapidus es un procedimiento seguro y eficaz en la corrección del quinto ortejo varo flexible.

Acrocallosal syndrome.

Presented here is a case of a 8 year old boy with typical clinical manifestations of Acrocallosal syndrome. The characteristic features of this syndrome are craniofacial abnormalities, distinctive digital malformation, mental retardation. The clinical and major nosologic aspects of this condition are discussed.