Split-hand/foot malformation 3 resulting from microduplications in 10q24 region in five patients from India.

Split-hand/foot malformation (SHFM) is a genetically heterogeneous congenital limb reduction defect characterized by the deficiencies of central rays of the autopod. Tandem duplications at 10q24 locus account for approximately 20% of all SHFM cases. Here, we report five affected individuals from four unrelated Indian families with SHFM3 caused by microduplication of 10q24 locus showing varied clinical presentations. This report substantiates and extends the current understanding of this rare, multifaceted, and complex condition.

Caudal regression in fetus with de novo SMARCA2 pathogenic variant.

Nicolaides-Baraitser syndrome (NCBRS) is a rare autosomal dominant genetic condition that is characterized by severe intellectual disability, dysmorphic facial features, short stature, sparse hair, and early onset seizures. This diagnosis is established by suggestive clinical findings and the identification of a heterozygous SMARCA2 pathogenic variant by molecular genetic testing. There are not, however, consensus clinical diagnostic criteria for this condition as there are so few documented cases. Here, we present a case of prenatally diagnosed caudal regression with sacral agenesis and congenital vertical talus (rocker bottom feet) that was ultimately found to have a de novo SMARCA2 pathogenic variant. The patient had an amniocentesis with normal karyotype and microarray followed by failed direct rapid whole exome sequencing (WES) due to maternal cell contamination. She elected for termination of the pregnancy based on the clinical prognosis of the ultrasound findings; WES revealed a pathogenic variant after her termination. We believe this is the first case of these findings associated with NCBRS. If any future cases of either finding are found in association with a SMARCA2 genetic variant, caudal regression and rocker bottom feet should be included in the spectrum of physical traits associated with this pathogenic variant.

Pediatric Foot: Development, Variants, and Related Pathology.

Pediatric foot development throughout childhood and adolescence can present a diagnostic dilemma for radiologists because imaging appearances may be confused with pathology. Understanding pediatric foot development and anatomical variants, such as accessory ossification centers, is essential to interpret musculoskeletal imaging in children correctly, particularly because many of these variants are incidental but others can be symptomatic. We first briefly review foot embryology. After describing common accessory ossification centers of the foot, we explain the different patterns of foot maturation with attention to irregular ossification and bone marrow development. Common pediatric foot variants and pathology are described, such as tarsal coalitions and fifth metatarsal base fractures. We also discuss pediatric foot alignment and various childhood foot alignment deformities.

Neonatal Assessment: Put Your Best Foot Forward.

BACKGROUND: Assessment of the foot is an essential part of the newborn examination. Foot abnormalities range from an isolated deformity due to intrauterine positioning to a functional impairment due to a structural malformation. The purpose of this article is to review assessment, abnormal findings, and current treatment options of common foot deformities. EVIDENCE ACQUISITION: A review of literature was conducted using keywords in PubMed, Google Scholar, and CINAHL databases from 2018 to 2023. RESULTS: Although assessment techniques for the neonatal foot remain the same, recent nonsurgical treatment options are available for a variety of neonatal foot deformities. Early recognition allows for proper evaluation of foot deformities and corrective measures. IMPLICATIONS FOR PRACTICE AND RESEARCH: Neonatal providers equipped with knowledge of common foot problems can provide support and anticipatory guidance to families.

Metatarsal lengthening by distraction osteogenesis for brachymetatarsia in paediatric patients: is it safe and effective?

PURPOSE: The primary aim is to assess the efficacy of the surgical callus distraction technique of the metatarsus in paediatric patients. Secondary objectives are to assess complications and treatment duration. We have also described the details of our surgical technique. MATERIALS AND METHODS: A case series review of paediatric patients who had metatarsal lengthening at our unit between 2014 and 2022. Patient demographics, duration of time in frame, complications and metatarsal length achieved were recorded. The AOFAS Midfoot and the MOXFQ were taken pre-operatively and at final follow-up. RESULTS: Sixteen metatarsals in 8 patients (14 feet) underwent lengthening between 2014 and 2022 using the MiniRail OrthoFix 100 (Orthofix Medical Inc, Lewisville, TX, USA). The mean age was 13.3 (12-17) years. The average duration between surgery and implant removal was 5.2 months. According to Paley's classification, there was one obstacle encountered in a patient who required a revision of their osteotomy and one problem in another patient who had an infected metatarsophalangeal joint stabilising k-wire treated with oral antibiotics. The Mean AOFAS Midfoot score improved from 53.10 to 86.40 (p < 0.0001) and the Mean MOXFQ improved from 32.5000 to 12.1250 (p < 0.05); these were statistically significant. CONCLUSION: Gradual metatarsal lengthening using the MiniRail external fixator is a safe and effective method to treat brachymetatarsia in paediatric patients. This preliminary report describes and supports metatarsal lengthening in appropriate patients. Holistic care in terms of a pre-operative assessment, psychological support and preparation for the extended rehabilitation period are vital.

Review of Current Concepts in Metatarsus Adductus.

Metatarsus adductus (MA), the most common congenital foot deformity, involves adduction of the forefoot at the tarsometatarsal joint, with normal hindfoot alignment. Early diagnosis is important because treatment is more successful if initiated before age 9 months. Treatment of MA depends on deformity severity, in which mild to moderate deformity can be treated conservatively. Current standard of care for severe or rigid deformity involves referral by primary care physicians to specialists for management by casting and splinting. Recently, several orthoses have demonstrated equal effectiveness to casting and may allow for primary care physicians to treat MA without the need for referral. In this review article, we provide an overview of MA and discuss diagnosis and treatment. We also discuss novel devices and suggest how they may affect the future management of severe and rigid MA. [Pediatr Ann. 2024;53(4):e152-e156.].

A spectrum of TP63-related disorders with eight affected individuals in five unrelated families.

TP63-related disdorders broadly involve varying combinations of ectodermal dysplasia (sparse hair, hypohydrosis, tooth abnormalities, nail dysplasia), cleft lip/palate, acromelic malformation, split-hand/foot malformation/syndactyly, ankyloblepharon filiforme adnatum, lacrimal duct obstruction, hypopigmentation, and hypoplastic breasts and/or nipples. TP63-related disorders are associated with heterozygous pathogenic variants in TP63 and include seven overlapping phenotypes; Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome (AEC), Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome 3 (EEC3), Limb-mammary syndrome (LMS), Acro-dermo-ungual-lacrimal-tooth syndrome (ADULT), Rapp-Hodgkin syndrome (RHS), Split-hand/foot malformation 4 (SHFM4), and Orofacial cleft 8. We report on five unrelated families with 8 affected individuals in which the probands presented with varying combinations of ectodermal dysplasia, cleft lip/palate, split-hand/foot malformation, lacrimal duct obstruction, and ankyloblepharon filiforme adnatum. The clinical diagnosis involved AEC syndrome (2 patients), EEC3 syndrome (2 patients), and a yet hitherto unclassified TP63-related disorder. Sanger sequence analysis of the TP63 gene was performed revealing five different variants among which four were novel and three were de novo. The identificated TP63 variants co-segregated with the other affected individuals in the families. The abnormalities of ectoderm derived structures including hair, nails, sweat glands, and teeth should alert the physician to the possibility of TP63-related disorders particularly in the presence of orofacial clefting.

[Clinical features of CAPOS syndrome caused by maternal ATP1A3 gene variation: a case report].

CAPOS syndrome is an autosomal dominant neurological disorder caused by mutations in the ATP1A3 gene. Initial symptoms, often fever-induced, include recurrent acute ataxic encephalopathy in childhood, featuring cerebellar ataxia, optic atrophy, areflflexia, sensorineural hearing loss, and in some cases, pes cavus. This report details a case of CAPOS syndrome resulting from a maternal ATP1A3 gene mutation. Both the child and her mother exhibited symptoms post-febrile induction,including severe sensorineural hearing loss in both ears, ataxia, areflexia, and decreased vision. Additionally, the patient's mother presented with pes cavus. Genetic testing revealed a c. 2452G>A（Glu818Lys） heterozygous mutation in theATP1A3 gene in the patient . This article aims to enhance clinicians' understanding of CAPOS syndrome, emphasizing the case's clinical characteristics, diagnostic process, treatment, and its correlation with genotypeic findings.

Childhood fever and hearing loss associated with CAPOS syndrome.

CAPOS (cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss) syndrome is a rare genetic disorder caused by the heterozygous mutation, c.2452G > A, in the ATP1A3 gene. CAPOS syndrome involves a characteristic episode in which neuropathy develops after a fever in childhood, and here, we describe the case of a patient with CAPOS syndrome. The patient had repeated episodes of a fever around 74 months of age. Although he could speak at 23 months of age, he presented with hearing difficulty after the fever. Pure-tone audiometry revealed moderate-to-severe bilateral sensorineural hearing loss, and auditory brainstem response (ABR) showed poor response in the both ears. Auditory stead-state response (ASSR) produced relatively consistent results compared to pure-tone audiometry. A mutation in the ATP1A3 gene was detected through genetic testing. In CAPOS syndrome, a genetic mutation leads to desynchronization during neural firing. We believe that this desynchronization in neural firing is responsible for the lack of response in the ABR and the presence of a response in the ASSR. In this patient, we attribute the response detection in ASSR to its greater tolerance for errors in the timing of neural firing compared to ABR.

Short Report: 10-year follow-up of a boy with ARID1B-related disorder. Early intervention, longitudinal dimensional phenotype, brain imaging and outcome.

ARID1B-related disorders constitute a clinical continuum, from classic Coffin-Siris syndrome to intellectual disability (ID) with or without nonspecific dysmorphic features. Here, we describe an 11-year-old boy with an ARID1B mutation whose phenotype changed from severe developmental delay and ID to a complex neurodevelopmental disorder with multidimensional impairments, including normal intelligence despite heterogeneous IQ scores, severe motor coordination disorder, oral language disorder and attention-deficit/hyperactivity disorder. Phenotypic changes occurred after early intensive remediation and paralleled the normalization of myelination impairments, as evidenced by early brain imaging. WHAT THIS PAPER ADDS?: This report describes a 10-year multidisciplinary follow-up of a child with an ARID1B mutation who received early intensive remediation and whose phenotype changed during development. Clinical improvement paralleled the normalization of myelination impairments. This case supports a dimensional approach for complex neurodevelopmental disorders.

Clinical features of CAPOS syndrome caused by maternal ATP1A3 gene variation: a case report / 临床耳鼻咽喉头颈外科杂志

CAPOS syndrome is an autosomal dominant neurological disorder caused by mutations in the ATP1A3 gene. Initial symptoms, often fever-induced, include recurrent acute ataxic encephalopathy in childhood, featuring cerebellar ataxia, optic atrophy, areflflexia, sensorineural hearing loss, and in some cases, pes cavus. This report details a case of CAPOS syndrome resulting from a maternal ATP1A3 gene mutation. Both the child and her mother exhibited symptoms post-febrile induction,including severe sensorineural hearing loss in both ears, ataxia, areflexia, and decreased vision. Additionally, the patient's mother presented with pes cavus. Genetic testing revealed a c. 2452G>A（Glu818Lys） heterozygous mutation in theATP1A3 gene in the patient . This article aims to enhance clinicians' understanding of CAPOS syndrome, emphasizing the case's clinical characteristics, diagnostic process, treatment, and its correlation with genotypeic findings.

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.

Un nuevo caso de síndrome CAPOS/CAOS / A new case of CAPOS/CAOS síndrome

No disponible

Colgajos locorregionales para defectos complejos de pierna y pie: uso actual en hospitales públicos de Montevideo, Uruguay / Locoregional flaps for complex leg and foot defects: valid options in public hospitals of Montevideo, Uruguay

INTRODUCCIÓN Y OBJETIVO: Las heridas complejas de pierna y pie representan un desafío para la Cirugía Plástica, más aún cuando se asocian a fracturas expuestas dada la escasa disponibilidad de tejido local y regional. En estos casos suele plantearse la indicación de colgajos microquirúrgicos. En nuestro medio, donde la infraestructura aún está en desarrollo y no siempre se cuenta con equipamiento, horas de bloque quirúrgico para cirugías prolongadas, personal de enfermería capacitado, y hay poca colaboración de los pacientes para la recuperación, es frecuente optar por colgajos fasciocutaneos y musculares pediculados para la reconstrucción de estos defectos a pesar de que también esté indicado un colgajo libre. El objetivo de este trabajo es mostrar nuestra experiencia en hospitalespúblicos de Montevideo, Uruguay, en reconstrucción de pierna y pie utilizando colgajos locorregionales con buenos resultados y tiempo de recuperación aceptable. MATERIAL Y MÉTODO: Realizamos un estudio descriptivo retrospectivo de 7 casos de diferentes opciones terapéuticas de colgajos locorregionales fasciocutáneos y musculares para cobertura de diferentes defectos complejos de pierna y pie, en el Hospital de Clínicas y en el Instituto Nacional de Ortopedia y Traumatología de Montevideo. Seleccionamos los casos dentro de las etiologías más frecuentes de heridas en esta topografía que requieren reconstrucción por Cirugía Plástica y representan el modelo de colgajo realizado en cada tipo de herida descrito (topografía, tamaño y tejidos expuestos). RESULTADOS: Presentamos 7 pacientes de entre 21 y 80 años de edad, en los que se realizaron colgajos musculares de gemelo interno, externo, hemitríceps, hemitríceps con tibial anterior, hemisoleo, fasciocutáneo de transposición y fasciocutáneo en isla sural. Los resultados fueron aceptables en cuanto a ausencia de complicaciones de los colgajos, no necesidad de revisiones y tiempo de recuperación de 2 a 6 meses. CONCLUSIONES: Los colgajos locorregionales descritos proporcionan cobertura satisfactoria en defectos complejos de pierna y pie cuando los colgajos microquirúrgicos, aún estando indicados, no pueden realizarse por déficit de material, infraestructura o personal de la salud, así como por falta de colaboración del paciente para la recuperación. Las opciones planteadas pueden formar parte del algoritmo terapéutico en centros que comparten la misma epidemiología y recursos que los nuestros

BACKGROUND AND OBJECTIVE: Complex leg and foot wounds represent a challenge for Plastic Surgery, and even more so when they are associated with exposed fractures, given the limited availability of local and regional tissue. In these cases, the indication of microsurgical flaps is usually considered. In our environment, where the infrastructure is still under development and equipment is not always available, neither hours of surgical block for prolonged surgeries, trained nursing personnel, added to the little collaboration of patients for recovery, it is frequent to opt for fasciocutaneous flaps and pedicled muscle flaps for reconstruction, even though a free flap is also indicated. The objective of this paper is to show our experience in public hospitals in Montevideo, Uruguay, in leg and foot reconstruction using locoregional flaps, with good results and acceptable recovery time. METHODS: We performed a retrospective descriptive study, in which 7 cases of different therapeutic options were described within the fasciocutaneous and muscular locoregional flaps to cover different complex leg and foot defects, from the Hospital de Clínicas and Instituto Nacional de Ortopedia y Traumatología in Montevideo, Uruguay. The cases were selected within the most frequent etiologies of wounds in this topography that require reconstruction by Plastic Surgery, and represents the flap model performed in each type of wound described (topography, size, exposed tissues). RESULTS: We present 7 patients between 21 and 80 years of age, in whom internal, external twin muscle flaps, hemitriceps, hemitriceps with anterior tibial, hemisoleous, transpositional fasciocutaneous, fasciocutaneous in sural island flaps were performed. The results were acceptable in terms of the absence of flap complications, the lack of flap reviews and based on the recovery time from 2 to 6 months. CONCLUSIONS: The locoregional flaps described provide satisfactory coverage in complex leg and foot defects when the microsurgical flaps, even when indicated, cannot be performed due to deficits in material, infrastructure or health personnel, as well as due to patient's lack of collaboration in recovery. The options proposed may be part of the therapeutic algorithm in centers that share the same epidemiology and resources as ours

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.