Braquimetatarsia: propuesta de tratamiento en base a técnicas de alargamiento: a propósito de dos casos / Brachymetatarsia: treatment proposal based on lengthening techniques: about two cases / Braquimetatarsia: proposta de tratamento baseada em técnicas de alongamento: sobre dois casos

Braquimetatarsia es el acortamiento anormal de uno o más metatarsianos. Tiene una incidencia de 0.02%-0.05% predominando en mujeres de 25 a 1. En un 72% puede ser bilateral. La etiología no es clara pero se plantea el cierre prematuro de la fisis dando un retardo en el crecimiento. La mayoría de las veces presenta síntomas causados por alteración en la mecánica de la parábola metatarsal como dolor e hiperqueratosis. Puede existir metatarsalgia y agregar en la evolución desviaciones digitales adicionales. El principal motivo de consulta es estético. El objetivo del reporte es mostrar dos técnicas quirúrgicas y los resultados clínicos correspondientes usando el score AOFAS, además de los resultados imágenológicos con hasta 5 años de seguimiento. Se describen dos pacientes y se analizan dos técnicas quirúrgicas diferentes para alargar los metatarsianos. Se trata de alargamientos agudos con interposición de injerto intercalar, en un caso mediante el procedimiento de Sandro Gianini con injerto de cresta ilíaca y en el otro con injerto de metatarsiano adyacente con modificación de la longitud del segundo y tercer metatarsiano restituyendo en ambos casos la parábola metatarsal. Obtuvimos buenos resultados al igual que series numerosas pudiendo recomendarse en casos similares.

Brachymetarsal is the abnormal shortening of one or more metatarsals. It has an incidence of 0.02%-0.05%, predominantly in women from 25 to 1. In 72% it can be bilateral. The etiology is not clear, but premature closure of the physis is suggested, giving growth retardation. Most of the time it presents symptoms caused by an alteration in the mechanics of the metatarsal parabola, such as pain and hyperkeratosis. There may be metatarsalgia and add additional digital deviations in the evolution. The main reason for consultation is aesthetic. The objective of the work is to show the surgical technique and the clinical results using the AOFAS score, in addition to the imaging results with up to 5 years of follow-up. Two patients are described and two different surgical techniques to lengthen the metatarsals are analyzed. These are acute lengthenings with intercalary graft interposition, in one case using the S.Gianini procedure with an iliac crest graft and in the other with an adjacent metatarsal graft with modification of the length of the second and third metatarsals, restoring in both cases the metatarsal parabola. We obtained good results. results as well as numerous series and can be recommended in similar cases.

Braquimetatarsal é o encurtamento anormal de um ou mais metatarsos. Tem incidência de 0,02%-0,05%, predominantemente em mulheres de 25 a 1 ano. Em 72% pode ser bilateral. A etiologia não é clara, mas sugere-se o fechamento prematuro da fise, causando retardo de crescimento. Na maioria das vezes apresenta sintomas decorrentes de uma alteração na mecânica da parábola metatarsal, como dor e hiperqueratose. Pode haver metatarsalgia e adicionar desvios digitais adicionais na evolução. O principal motivo da consulta é a estética. O objetivo do trabalho é mostrar a técnica cirúrgica e os resultados clínicos utilizando o escore AOFAS, além dos resultados de imagem com até 5 anos de seguimento. Materiais e métodos: São incluídos dois pacientes e analisadas duas técnicas cirúrgicas diferentes para alongar os metatarsos. São alongamentos agudos com interposição de enxerto intercalar, em um caso utilizando a técnica de S. Gianini com enxerto de crista ilíaca e no outro com enxerto de metatarso adjacente com modificação do comprimento do segundo e terceiro metatarsos, restaurando em ambos os casos o metatarso parábola. Obtivemos bons resultados, bem como inúmeras séries, podendo ser recomendados em casos semelhantes.

Hemimelia tibial: Presentación de un caso / Tibial Hemimelia

Introducción: La hemimelia tibial o hemimelia paraxial longitudinal tibial, es una deficiencia congénita de la tibia. Esta deficiencia de los miembros inferiores longitudinal tibial, es muy rara y su frecuencia está en el orden de 1: 1 000 000 de niños nacidos vivos. Objetivo: Presentar un caso de hemimelia tibial diagnosticado por medio del cuadro clínico y radiografías y tratado quirúrgicamente. Presentación del caso: Paciente masculino de dos horas de nacido, atendido por presentar malformación congénita a nivel de la pierna derecha que se presentaba acortada con una prominencia dura a nivel proximal y el pie con deformidad marcada en supinación, aducción y rotación interna. Se realizó examen físico exhaustivo de la extremidad afecta y se constató el acortamiento evidente de la misma. Se indicó radiografía anteroposterior y lateral de la pierna y se observó que el segmento proximal de la tibia y el peroné estaban bien, pero con implantación alta, por lo que se diagnosticó una hemimelia tibial tipo II de Jones. Luego del alta el niño recibió seguimiento por consulta de Genética y el servicio de Ortopedia donde se decidió someterlo a un primer tiempo quirúrgico a los 6 meses de edad, mediante tibialización del peroné. A los 10 meses se realizó un segundo tiempo quirúrgico para centrar el astrágalo al peroné. Conclusiones: La hemimelia tibial se considera un diagnóstico poco frecuente en nuestro medio. No existe prevención conocida. El tratamiento es complejo y altamente especializado, y en algunos casos requiere la amputación temprana del miembro afectado para adaptar al paciente al uso de prótesis(AU)

Introduction: Tibial hemimelia or tibial longitudinal paraxial hemimelia is a congenital deficiency of the tibia. This tibial longitudinal lower limb deficiency is very rare and its frequency is in the order of 1: 1,000,000 live births. Objective: To report a case of tibial hemimelia diagnosed through the clinical condition and radiographs and treated surgically. Case report: We report the case of a two-hour-old male patient, treated for a congenital malformation at the level of the right leg that was shortened with a hard prominence at the proximal level and the foot with marked deformity in supination, adduction and internal rotation. An exhaustive physical examination of the affected limb was carried out and its evident shortening was confirmed. Anteroposterior and lateral X-rays of the leg were indicated and it revealed that the proximal segment of the tibia and fibula were fine, but with high implantation, for which a Jones type II tibial hemimelia was diagnosed. After discharge, the child was followed up by the Genetics consultation and the Orthopedics service, where it was decided to undergo a first stage surgery at 6 months of age, by means of tibialization of the fibula. At 10 months, a second surgical time was performed to center the talus to the fibula. Conclusions: Tibial hemimelia is considered a rare diagnosis in our setting. There is no known prevention. Treatment is complex and highly specialized, and in some cases requires early amputation of the affected limb to adapt the patient to the use of a prosthesis(AU)

Análisis tomográfico de la alineación del retropié en pacientes con coaliciones tarsianas / A computed tomography assessment of hindfoot alignment in patients with tarsal coalitions

Introducción: El objetivo de este estudio es describir la morfología del retropié mediante cortes coronales con tomografía com-putarizada en pacientes con coaliciones tarsianas. materiales y métodos: Se incluyeron 85 pies de 78 pacientes de entre 9 y 17 años. Fueron divididos en 3 grupos: 1) grupo de control (n = 29), 2) con coaliciones calcáneo-escafoideas (CCE) (n = 31) y 3) con coaliciones astrágalo-calcáneas (CAC) (n = 25). Dos observadores valoraron cinco medidas: Inftal-Suptal, Inftal-Hor, Inftal-Supcal, Suptal-Infcal y el ángulo astrágalo-calcáneo (AAC). Resultados: Los grupos no presentaron diferencias en la distribución por edad y sexo. Los pacientes con coaliciones tarsianas tuvieron valores significativamente superiores en todas las mediciones comparados con el grupo de control (p <0,05 Kruskall-Wallis/ANOVA). Las mediciones del AAC en los pacientes con CCE y CAC fueron significativamente superiores a las del grupo de control (10,09 ± 4,60; 17,77 ± 11,28 y 28,66 ± 8,89, respectivamente, p <0,0001). La distribución del AAC fue muy variable en los pacientes con CCE, mientras que, en la mayoría del grupo CAC, tuvo un patrón de alineación en valgo. No hubo una correlación directa entre los valores del AAC e Inftal-Hor (Spearman 0,27013; p = 0,1916). Conclusiones: En los pacientes con coaliciones tarsianas, la orientación del valgo del retropié suele estar aumentada. La magnitud de esta deformidad es mayor en pacientes con CAC, mientras que, en aquellos con CCE pueden manifestarse con una gran variabilidad. El aumento del valgo del retropié no implica necesariamente un aumento de la inclinación de la articulación subastragalina, por lo que esta última debe evaluarse por separado en la planificación preoperatoria. Nivel de Evidencia: III

Background: The aim of this study is to analyze the hindfoot alignment with computed tomography (CT-scan) in patients with tarsal coalitions. Materials and Methods: Eighty-five patients (78 feet) between 9 and 17 years of age were included and divided into 3 groups: A) without coalitions (control group, N 29 ), B) with calcaneal-navicular coalitions (CNC group, N 31), and C) with talo-calcaneal coalitions (TCC group, N 25). Five measurements were assessed: Inftal-Suptal, Inftal-Hor, Inftal-Supcal, Suptal-Infcal, and Talo-calcaneal angle (TCA). Results: Demographic data revealed no differences between groups with respect to patient's age and sex (p = 0.3630 and 0.2415 respectively). Patients with tarsal coalitions presented significantly higher values ​​in all measurements compared to the control group (p = <0.05 Kruskall-Wallis / ANOVA). TCA measurements in the patients with CNC and TCC were significantly superior to the control group (10.09 ± 4.60, 17.77 ± 11.28 and 28.66 ± 8.89 respectively, p = <0.0001). TCA distribution in the patients with CNC presented great variability, while group 3 (TCC) presented mostly a valgus alignment pattern. We did not find a direct correlation between the TCA and Inftal-Hor values ​​(Spearman 0.27013, p = 0.1916). Conclusion: Patients with tarsal coalitions show an increased valgus orientation of the hindfoot. The deformity is greater in patients with TCC, while in those with CNC demonstrated a great variability. The increase in the hindfoot valgus does not necessarily indicate an increase in the inclination of the subtalar joint, so the latter must be evaluated separately at the time of preoperative planning. Level of Evidence: III

Genetic analysis of a Chinese pedigree affected with congenital split-hand/foot malformation / 中华医学遗传学杂志

OBJECTIVE@#To analyze the molecular genetics of a Chinese pedigree with congenital hand foot cleft.@*METHODS@#Single nucleotide polymorphism microarray (SNP array) was used to analyze the whole genome copy number variation.@*RESULTS@#SNP array analysis showed that there was a 433 kb repeat in 10q24.31-10q24.32 region, which contained LBX1, BTRC, POLL, OPCD and FBXW4 genes.@*CONCLUSION@#Microduplication of chromosome 10q24.31-10q24.32 may be the cause of congenital hand foot cleft in this pedigree.

Relação entre baropodometria, podoscopia e plantigrafia na avaliação da impressão plantar / Relationship between baropodometry, podoscopy and plantigraphy in the evaluation of plantar printing

Objetivo ­ Analisar a relação entre baropodometria, podoscopia e plantigrafia na avaliação da impressão plantar. Métodos ­ Foram analisados 26 indivíduos voluntários com idade entre 20 e 25 anos, de ambos os sexos, sem restrição quanto à raça, que não referiram dor aguda ou crônica, que não foram submetidos a qualquer procedimento cirúrgico em membros inferiores e que não apresentassem disfunções neurológicas e vestibulares. Os indivíduos foram submetidos aos exames de baropodometria, podoscopia e plantigrafia no mesmo dia, recebendo as mesmas orientações em todas as medições, sendo realizadas três coletas em cada equipamento. Na análise da impressão plantar foi utilizado o Índice de Chippaux-Smirak (CSI), que classifica o arco longitudinal medial de acordo com cinco categorias: pé com arco elevado, pé com arco morfologicamente normal, pé intermediário, pé com arco reduzido, pé plano. Resultados ­ Foram utilizadas duas análises estatísticas: o Índice de Kappa e o Teste de ANOVA. A análise do arco plantar feita pela plantigrafia encontrou uma média de 0,346 classificando os pés como intermediários. No podoscópio a média foi de 0,237 e na baropodometria de 0,141, ambos classificando os pés como morfologicamente normais. Verifica-se que não houve concordância quanto à classificação do arco nos três equipamentos simultaneamente (p=0,372), além de existir uma grande variação das médias amostrais (p<0,001). Conclusão ­ Não houve uma relação direta entre baropodometria, podoscopia e plantigrafia na avaliação da impressão plantar

Objective ­ To analyze the relationship between baropodometry, podoscopy and plantigraphy in the evaluation of the footprint. Methods ­ 26 voluntary individuals aged between 20 and 25 years old, of both sexes, without ethinia restriction, did not report acute or chronic pain, did not undergo any surgical procedure on the lower limbs and did not present any dysfunction, were analyzed neurological and vestibular. The individuals were submitted to baropodometry, podoscopy and plantigraphy exams on the same day, receiving the same guidelines in all measurements, with three collections being performed on each equipment. In the analysis of the footprint, the Chippaux-Smirak Index (CSI) was used, which classifies the medial longitudinal arch according to five categories: foot with elevated arch, foot with morphologically normal arch, intermediate foot, foot with reduced arch, flat foot. Results ­ Two statistical analyzes were used: the Kappa Index and the ANOVA Test. The analysis of the plantar arch made by plantigraphy found an average of 0.346 classifying the feet as intermediate. In the podoscope the average was 0.237 and in baropodometry 0.141, both classifying the feet as morphologically normal. It appears that there was no agreement regarding the classification of the arc in the three devices simultaneously (p=0.372), in addition to a large variation in the sample means (p<0.001). Conclusion ­ There was no direct relationship between baropodometry, podoscopy and plantigraphy in the evaluation of the footprint.

Genetic analysis of a pedigree affected with congenital split-hand/foot malformation / 中华医学遗传学杂志

OBJECTIVE@#To explore the genetic basis for a Chinese pedigree affected with split hand/foot malformation (SHFM).@*METHODS@#Genomic DNA of the proband and other affected members was extracted from peripheral blood samples. Chromosomal microarray analysis was employed to detect genome-wide copy number variations (CNVs).@*RESULTS@#A 400 kb microduplication was identified in the 10q24.31-q24.32 region among all affected individuals. The microduplication has involved four genes, namely LBX1, BTRC, POLL and DPCD, in addition with part of FBXW4 gene.@*CONCLUSION@#The 10q24.31-q24.32 microduplication has segregated with the disease phenotype in this pedigree and probably underlay the SHFM malformation in the patients.

Analysis of SMARCA2 gene mutation in a child with Nicolaides-Baraitser syndrome / 中华医学遗传学杂志

OBJECTIVE@#To explore the molecular basisfor a child featuring short stature, abnormal facial features and developmental delay.@*METHODS@#Genomic DNA was extracted from peripheral blood samples from the child and his family members. Next-generation sequencing was carried out to screen the whole exomes of the core family. Detected variants were filtered and analyzed according to the standards and guidelines for the interpretation of sequence variants recommended by the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.@*RESULTS@#Trio-based sequencing has identified a de novo variant c.3593T>G (p.Val1198Gly) in the SMARCA2 gene in the patient. The variant was located in the Helicase C-terminal domain and was classified as pathogenic based on the guidelines.@*CONCLUSION@#The patient was diagnosed with Nicolaides-Baraitser syndrome caused by SMARCA2 gene mutation.

Genetic study of a pedigree affected with oculodentodigital dysplasia / 中华医学遗传学杂志

OBJECTIVE@#To explore the genetic basis of a pedigree affected with oculodentodigital dysplasia.@*METHODS@#Genomic DNA was extracted from peripheral blood or amniotic fluid samples derived from the pedigree. Exon 2 of the GJA1 gene was amplified for sequencing.@*RESULTS@#Two pedigree members were found to carry heterozygous missense variation of the GJA1 gene, c.221A>C (p.H74P).@*CONCLUSION@#The missense c.221A>C variation of the GJA1 gene probably underlies the oculodentodigital dysplasia in this pedigree.

Pie bot y FLAP como asociación aislada / Clubfoot and OC as an isolated association

INTRODUCCIÓN: el pie bot y la fisura labio alvéolo-palatina (flap) son malformaciones congénitas relacionadas con síndromes diversos, aunque infrecuentes como entidades aisladas. El pie bot tiene como tratamiento de elección, el método enyesado de Ponseti, mientras que la flap requiere corrección quirúrgica a menudo. Ésta última presenta diferentes variantes: fisura labial, fisura palatina y fisura labio/palatina. OBJETIVO: mostrar 3 pacientes evaluados multidisciplinariamente con asociación pie bot-flap sin formar parte de un síndrome. MATERIAL Y MÉTODOS: estudio retrospectivo descriptivo. Presentamos 3 pacientes atendidos de enero de 2016 a enero de 2017, con pie bot y flap aislados sin otra alteración estudiados por genetista. Se realizó método de Ponseti por ortopedista más tratamiento de la flap por cirujano máxilofacial. RESULTADOS: presentamos 3 pacientes, (2 femeninas). Edad a la consulta: 2 meses promedio con 8.8 Yesos semanales y ferulaje posterior. Una paciente abandonó tratamiento, retomando yesos actualmente. Los 3 necesitaron tenotomía del tendón de Aquiles y cirugía máxilofacial. Seguimiento promedio: 1 año y 5 meses. Se trabajó multidisciplinariamente descartando otras patologías por genetista. CONCLUSIONES: evaluar el paciente de manera multidisciplinar simplifica el tratamiento y favorece el diagnóstico de otras patologías no evidenciadas al momento de la consulta.

INTRODUCTION: Clubfoot and orofacial cleft (OC) are congenital malformations related to different syndromes, although uncommon as isolated entities. The treatment of choice for the clubfoot is the Ponseti method with casting while the OC often requires surgical correction. The latter presents different variants: lip cleft, palate cleft or both. OBJECTIVE: to show 3 patients with non syndromic associated clubfoot-OC who were evaluated with a multidisciplinary approach. MATERIALS AND METHODS: a descriptive retrospective study. We present 3 patients with isolated clubfoot and orofacial cleft and no other alteration, treated from January 2016 to January 2017 and examined by a genetist. Ponseti method was applied by an orthopedist and the orofacial cleft was treated by an oro-maxillo-facial surgeon. RESULTS: we presented 3 patients (2 female). Age at evaluation: average 2 months with 8.8 weekly casts and subsequent splinting. One patient dropped the treatment and now has resumed casting. The 3 of them needed tenotomy of the Achilles tendon and oromaxillo-facial surgery. Average follow-up: 1 year 5 months. The approach was multidisciplinary and other pathologies were ruled out by a genetist. CONCLUSIONS: Evaluating the patient by using a multidisciplinary approach simplifies the treatment and favors the diagnosing of other pathologies not presented at the office visit.

A de novo GJA1 mutation identified by whole-exome sequencing in a patient with oculodentodigital dysplasia / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To explore the genetic basis for a patient with oculodentodigital dysplasia.</p><p><b>METHODS</b>Genomic DNA was extracted from peripheral blood samples from the patient and his parents. Whole-exome sequencing was carried out for the trio family. Suspected mutation was verified by Sanger sequencing.</p><p><b>RESULTS</b>A de novo c.412G>A mutation of the GJA1 gene was identified in the patient, which was validated by Sanger sequencing.</p><p><b>CONCLUSION</b>The c.412G>A mutation of the GJA1 gene probably underlies the disease in the patient.</p>

Identification of pathogenic mutation in a Chinese pedigree affected with split hand/split foot malformation / 中华医学遗传学杂志

OBJECTIVE@#To detect potential mutation in a Chinese pedigree affected with split hand/split foot malformation (SHFM).@*METHODS@#The patients were screened for genome-wide copy number variations with single nucleotide polymorphism (SNP) microarray. Copy number variations were verified by real-time fluorescence quantitative PCR.@*RESULTS@#There were 3 SHFM patients from three generations, which conformed to an autosomal dominant inheritance. SNP microarray assay revealed that all patients have carried a 0.34 Mb duplication in 10q24.31-q24.32 (102 993 649-103 333 271) encompassing the BTRC and DPCD genes. The result was verified by real-time fluorescence quantitative PCR, confirming that the duplication has co-segregated with the SHFM phenotype in the pedigree.@*CONCLUSION@#The 10q24.31-q24.32 duplication probably underlies the pathogenesis of SHFM in this pedigree. Tiny copy number variations can result in diseases featuring autosomal dominant inheritance.

Genetic analysis of three families affected with split-hand/split-foot malformation / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To explore the genetic etiology of three families affected with split-hand/split-foot malformation (SHFM).</p><p><b>METHODS</b>Peripheral venous blood samples from 21 members of pedigree 1, 2 members of pedigree 2, and 2 members of pedigree 3 were collected. PCR-Sanger sequencing, microarray chip, fluorescence in situ hybridization (FISH), real-time PCR, and next-generation sequencing were employed to screen the mutations in the 3 families. The effect of the identified mutations on the finger (toe) abnormality were also explored.</p><p><b>RESULTS</b>Microarray and real-time PCR analysis has identified a duplication in all patients from pedigrees 1 and 3, which have spanned FKSG40, TLX1, LBX1, BTRC, POLL and FBXW4 (exons 6-9) and LBX1, BTRC, POLL and FBXW4 (exons 6-9) genes, respectively. A missense mutation of the TP63 gene, namely c.692A>G (p.Tyr231Cys), was found in two patients from pedigree 2. FISH analysis of chromosome 10 showed that the rearrangement could fita tandem duplication model. However, next-generation sequencing did not identify the breakpoint.</p><p><b>CONCLUSION</b>The genetic etiology for three families affected with SHFM have been identified, which has provideda basis for genetic counseling and guidance for reproduction.</p>

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.

Benefits from using an ankle-foot orthosis in children with myelomeningocele / Benefícios do uso da órtese tornozelo-pé nas crianças com mielomeningocele

Myelomeningocele (MMC) or spina bifida is a defect of the neural tube in which the spinal cord, its envelopes (meninges), and vertebral arches develop abnormally in the beginning of gestation, and owing to this failure of closure there appear a series of congenital defects and associated comorbidies, impairing in several aspects the functioning of the life of children with MMC. The congenital clubfoot has been found the most common orthopaedic anomaly in patients with MMC. The ankle-foot orthosis (AFO) is an orthopaedic device commonly used by these children to minimize the sequelae caused by this anomaly. OBJECTIVE: Identify the functional benefits brought about by the use of the AFO to children with MMC, as reported by their guardians. METHOD: Descriptive, transversal study. Convenience sample consisting of 25 guardians of children with MMC who were using/had used an AFO. RESULTS: Eighty percent of the guardians have reported at least one benefit brought about by the use of the AFO, among them: improvement in foot position (68%), foot growth (40%), improvement in foot balance (32%), and balance sitting position (15%). CONCLUSION: The use of the AFO by children with MMC can provide several benefits reported by their guardians.

A mielomeningocele (MMC) ou espinha bífida é um defeito do tubo neura no qual a medula espinal, seus envoltórios (meninges) e os arcos vertebrais desenvolvem-se anormalmente no início da gestação e, como consequências, temos uma série de defeitos congênitos e comorbidades associadas prejudicando a funcionalidade em diversos aspectos da vida das crianças com MMC. O pé torto congênito foi apontado como a anomalia ortopédica mais comum nos pacientes com MMC e a órtese tornozelo-pé (OTP) é um aparelho ortopédico que pode ser usado nessas crianças para amenizar as sequelas geradas por essa anomalia. OBJETIVO: Identificar os benefícios funcionais trazidos pelo uso da OTP em crianças com MMC relata-dos pelos seus responsáveis. MÉTODO: Estudo descritivo, transversal. Amostra de conveniência composta por responsáveis de 25 crianças com MMC que usavam/usaram a OTP que responderam a uma entrevista estruturada que contemplava as variáveis estudadas. RESULTADOS: Oitenta por cento dos responsáveis relataram pelo menos um benefício causado pelo uso da OTP, dentre eles: melhorou a postura do pé (68%), o pé cresceu (40%), melhorou o equilíbrio em pé (32%), melhorou o equilíbrio sentado (15%). CONCLUSÃO: O uso da OTP em crianças com MMC pode proporcionar benefícios identificados pelos responsáveis.

Síndrome de Davidenkow: Una neuropatía periférica rara / Davidenkow syndrome. A rare peripheral neuropathy

En 1939 Davidenkow describió un tipo de atrofia diferente y rara con un patrón predominante en distribución escápulo-peroneal. Algunos investigadores caracterizaron el síndrome como una variante de la enfermedad de Charcot-Marie-Tooth; sin embargo, Davidenkow percibió que las manifestaciones clínicas y de laboratorio no corroboraban exactamente esta hipótesis. Describimos el caso de una mujer de 39 años, con cuadro clínico semejante al síndrome descrito por Davidenkow, presentando atrofia escápulo-peroneal. Sus primeros síntomas comenzaron cuando tenía 24 años, inicialmente con debilidad motora proximal en los miembros superiores. No tenía historia familiar de miopatía o neuropatía y se excluyeron otros síndromes que se podrían incluir entre los diagnósticos diferenciales mediante la realización de pruebas de mutación genética, además del examen físico y electromiografía. El amplio espectro de enfermedades neuromusculares a veces dificulta su diagnóstico y debe ser siempre considerado en el diagnóstico diferencial.

A different and rare type of atrophy with a predominant pattern in scapulo-peroneal distribution was described by Davidenkow in 1939. The syndrome was characterized by some researchers as a variant of Charcot-Marie-Tooth disease, however Davidenkow noticed that clinical and laboratorial manifestations did not corroborate exactly with this hypothesis. We describe a case of a female patient, 39 years-old, clinical picture similar to the syndrome described by Davidenkow, presenting scapulo-peroneal atrophy. Her first symptoms had appeared when she was 24, initially with proximal motor weakness in the upper limbs. This patient did not have family history of myopathy or neuropathy. Several tests were performed to exclude other syndromes that could be included in the differential diagnosis, by testing gene mutation, in addition to the physical examination and electromyography. The large spectrum of neuromuscular diseases makes difficult the diagnosis of Davidenkow’s syndrome which always should be considered in the differential diagnosis.

Foot Syndactyly: A Clinical and Demographic Analysis

BACKGROUND: Syndactyly of the foot is the second most common congenital foot anomaly. In East Asia, however, no large case study has been reported regarding the clinical features of isolated foot syndactyly. In this study, we report a review of 118 patients during the last 25 years. METHODS: We conducted a chart review of patients who underwent surgical correction for foot syndactyly between January 1990 and December 2014. Operations were performed with a dorsal triangular flap and a full-thickness skin graft. The demographics of included patients and their clinical features were evaluated. Surgical outcomes and complications were analyzed. RESULTS: Among 118 patients with 194 webs (155 feet), 111 patients showed nonsyndromic cases and 7 patients showed syndromic cases. In 80 unilateral cases (72.1%), the second web was the most frequently involved (37.5%), followed by the fourth (30%), the first (15%), the third (15%), the first and second in combination (1.3%), and the second and third in combination (1.3%). Among 31 bilateral cases, 2 cases were asymmetric. Among the remaining 29 symmetric bilateral cases, the second web was the most frequently involved (45.2%), followed by the first (22.6%), and the fourth (6.5%). No specific postoperative complications were observed, except in the case of 1 patient (0.51%) who required a secondary operation to correct web creep. CONCLUSIONS: This retrospective clinical study of 118 patients with both unilateral and bilateral foot syndactyly revealed that the second web was the most frequently involved. In addition, complete division and tension-free wound closure with a full-thickness skin graft of sufficient size showed good postoperative results.

Attention deficit hyperactivity disorder and intellectual giftedness: a study of symptom frequency and minor physical anomalies

Objective: To evaluate the presence of symptoms of attention deficit and hyperactivity disorder (ADHD) in intellectually gifted adults and children. Methods: Two cross-sectional studies were performed in children and adults whose intelligence quotient (IQ) had been previously evaluated using Raven’s Progressive Matrices (RPM) test. Seventy-seven adults displaying IQ scores above the 98th percentile were assessed using the Adult Self-Report Scale (ASRS-18) for signs of ADHD and a modified Waldrop scale for minor physical anomalies (MPAs). Thirty-nine children (grades 1-5) exhibiting IQ scores above the 99th percentile, as well as an equally matched control group, were assessed for ADHD by teachers using the Swanson, Nolan and Pelham IV Rating Scale (SNAP-IV) as used in the NIMH Collaborative Multisite Multimodal Treatment Study of Children with Attention-Deficit/Hyperactivity Disorder (MTA-SNAP-IV). Results: In gifted adults, the frequency of ADHD-positive cases was 37.8%, and the total MPA score was significantly associated with ADHD (p < 0.001). In children, the ADHD-positive case frequency was 15.38% in the gifted group and 7.69% in the control group (odds ratio [OR] = 2.18, p = 0.288). Conclusions: The high frequency of ADHD symptoms observed, both in gifted adults and in gifted (and non-gifted) children, further supports the validity of this diagnosis in this population. Furthermore, the significant association between MPAs and ADHD suggests that a neurodevelopmental condition underlies these symptoms.

Anoftalmia clínica associada a coloboma e malformações sistêmicas: etiologia e relação oftalmologista-paciente / Clinical anophthalmia and coloboma associated with systemic malformations: etiology and ophthalmologist-patient relationship

RESUMO O presente relato refere-se a uma paciente de 2 anos e 9 meses de idade, portadora de anoftalmia clínica à direita associada a coloboma posterior à esquerda e malformações sistêmicas. A mãe foi vacinada contra rubéola três meses antes da concepção e, ao nascimento, os exames laboratoriais mostraram título de anticorpos IgG de 267 UI/mL para rubéola e 3,5 UI/mL para citomegalovírus, sendo o IgM negativo para ambos. As anormalidades encontradas possuem características de síndrome da rubéola congênita (SRC) e infecção congênita por citomegalovírus. Também podem constituir alteração genética, decorrer de outras etiologias ou apresentarse sem explicação. A avaliação psicológica da paciente foi normal e a mesma encaminhada para reabilitação visual. A mãe manifestou sintomas depressivos e indicado tratamento especializado. Outros estudos serão necessários para esclarecer a etiologia das malformações oculares congênitas e os cuidados holísticos a serem valorizados durante a relação oftalmologista-paciente.

ABSTRACT This report refers to a two years and nine months patient, carrier of clinical anophthalmia in her right eye associated with posterior coloboma in her left eye and systemic malformations. The mother was vaccinated against rubella three months before conception and, at birth, the laboratory tests showed 267 IU/mL for rubella IgG antibodies level and 3,5 IU/mL for cytomegalovirus, being IgM antibodies negative for both. The abnormalities found have characteristics of congenital rubella syndrome (CRS) and congenital cytomegalovirus infection. It can also constitute genetic alteration, derive from other etiologies or present themselves without explanation. The patient’s psychological evaluation was within normal limits, being referred for vision rehabilitation. The mother manifested depressive symptoms, being shown to her specialized treatment. Further studies are needed to clarify the etiology of congenital eye malformations and the holistic cares to be valued during the relationship ophthalmologist-patient.

Aqueiropodia: primer reporte de caso en Argentina / Acheiropodia: first case report in Argentina

La aqueiropodia es una enfermedad muy infrecuente, de herencia autosómica recesiva, caracterizada por una anomalía de reducción de miembros. Esta enfermedad ha sido descrita principalmente en Brasil. El objetivo de este trabajo es describir el primer caso reportado en Argentina, en dos hermanos gemelos afectados. Los pacientes fueron comunicados al Registro Nacional de Anomalías Congénitas de Argentina (RENAC). Ambos gemelos presentaron ausencia de manos y huesos del antebrazo, ausencia de pies, piernas acortadas con ausencia de peroné bilateral. Los pacientes descritos en este estudio son el primer reporte del síndrome de aqueiropodia en Argentina. La inmigración proveniente de Brasil posiblemente explique la ocurrencia de esta patología en nuestra población.

Acheiropodia is a very rare disease with autosomal recessive inheritance characterized by limb reduction defects. It has been described mainly in Brazil. The aim of this report is to describe the first reported cases in Argentina in two affected twins. Patients were reported to the National Registry of Congenital Anomalies of Argentina (RENAC). Both twins had limb reduction defect including hands, forearms, feet and fibulae. These patients are the first reported cases of acheiropodia syndrome in Argentina. Immigration from Brazil could explain this case in our population.

Split-hand/foot malformation (SHFM) e manifestações atípicas: desafio diagnóstico / Split-hand/foot malformation (SHFM) and atypical manifestations: diagnostic challenge

A Split-hand/foot Malformation, muitas vezes aceita como sinônimo de ectrodactilia, é uma malformação com diferentes padrões de hereditariedade que pode se apresentar isoladamente ou como parte de síndromes de maior expressão clínica. Discutimos as peculiaridades do seu diagnóstico e das manifestações associadas ao quadro. Descrevemos o caso esporádico de um paciente com ectrodactilia que desenvolveu uma Síndrome Mielodisplásica associada a manifestações reumatológicas e a Trombose Venosa Profunda. Consideramos o paciente como portador da forma isolada da Split-hand/foot Malformation e as suas outras manifestações como consequências atípicas da Síndrome Mielodisplásica.

The Split-hand/foot Malformation often accepted as a synonym for ectrodactyly is a malformation with different patterns of heredity that can present it individually or as part of syndromes with most clinical significance. We discussed the peculiarities of their diagnosis and clinical manifestations associated with the condition presented. We describe a sporadic case of a patient with ectrodactyly who developed a myelodysplastic syndrome associated with rheumatic manifestations and Deep VeinThrombosis. We considered the patient as suffering from an isolated form of Split-hand/foot Malformation and its other manifestations as atypical consequences of myelodysplastic syndrome.