RESUMEN
Genetic variants in the zone of polarizing activity regulatory sequence (ZRS) that induce ectopic expression of the SHH gene have been associated with different ZRS-related phenotypes. We report the first patient with a de novo variant, c.423+4916 T>C, in ZRS (previously classified as a variant of uncertain significance) that causes tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome (THPTTS). A two-month-old male patient presented with bilateral preaxial polydactyly, triphalangeal thumb, and tibial agenesis and was heterozygous for the variant c.423+4916T>C (neither of his parents was a carrier). The findings obtained from the family study were sufficient to reclassify the variant from "uncertain significance" to "likely pathogenic" according to three criteria from the American College of Medical Genetics and Genomics guidelines, as follows: (1) absence of gnomAD, (2) confirmation of paternity and maternity, and (3) strong phenotype-genotype association. In ZRS-associated syndromes, a wide clinical spectrum has been observed, ranging from polydactyly to THPTTS; our patient has the most severe and rare phenotype. We did not perform functional assays. However, the c.423+4916T>C variant is flanked by three variants, which have been proven not only to cause the phenotype but also to increase the expression of SHH. Through all this data gathering, we consider the c.423+4916T>C variant to be causative of THPTTS.
Asunto(s)
Ectromelia , Deformidades Congénitas de la Mano , Pulgar , Humanos , Lactante , Masculino , Anomalías Múltiples/genética , Anomalías Congénitas , Ectromelia/genética , Estudios de Asociación Genética , Deformidades Congénitas de la Mano/genética , Proteínas Hedgehog/genética , Disostosis Mandibulofacial , Mutación , Fenotipo , Polidactilia/genética , Pulgar/anomalías , Tibia/anomalías , Dedos del Pie/anomalíasRESUMEN
Background: The Kapandji scale has 10 levels and includes abduction, rotation and flexion movements. Assessing children with thumb hypoplasia, this scale is poorly understood and confusing. The objective of the study is to evaluate an opposition scale simpler and understandable for children. Methods: It is a validation study of a simplified scale to qualify the opposition of the thumb, in order to asses only the abduction - rotation but not the flexion of the metacarpo-phalangeal (MP) or interphalangeal (IF) joint. The proposed classification goes from 0 to 3 degrees, where 0: No opposition, 1: The thumb touches the middle phalanx of the 2nd finger, 2: the thumb touches the pulp of the 2nd finger and 3: the thumb touches the pulp of the 5th finger. 10 patients with thumb hypoplasia were analyzed by 9 hand surgeons and 9 orthopedic surgeons. Results: The intraclass correlation coefficient shows a very good inter-observer reliability with a kappa of 0.991 (p = 0.000). When correlated by groups, the finding were very good between the hand surgeons group k = 0.980 (p = 0.000) and the orthopedic surgeons group 0.974 (p = 0.000). At 6 weeks a new evaluation was made, the intra-observer reliability was excellent k = 0.995 (p = 0.000). Conclusions: The proposed scale for the evaluation of the abductionrotation of the thumb is validated and useful in the evaluation of the results of a thumb opposition transfer with a good inter-observer and intra-observer reliability between orthopedic and hand surgeons.
Asunto(s)
Deformidades de la Mano/clasificación , Examen Físico , Pulgar/anomalías , Niño , Humanos , Rango del Movimiento Articular , Reproducibilidad de los Resultados , RotaciónRESUMEN
La pulgarización del dedo índice permite reconstruir la pinza de la mano. Fue ampliamente realizada para una reconstrucción de una pérdida de pulgar en condiciones de trauma. Sin embargo, hoy por hoy, es la técnica de elección para las hipoplasias congénitas de pulgar. En los niños permite crear una pinza, especialmente para objetos grandes y entrega una apariencia más normal de la mano. Es una técnica demandante, pero con pasos que están bien definidos y perfeccionados, que al ser realizados de forma cuidadosa, reducen al mínimo sus complicaciones.
The pollicization of the index finger allows reconstructing the hand's ability to pinch. It has been broadly used to address traumatic loss of the thumb. However today it is the procedure of choice for severe congenital thumb hypoplasia. It allows children to pinch, particularly large objects, it also gives the hand a more normal appearance. It is a demanding procedure, with a series of technical steps that are well defined and perfected, such that if they are performed in a careful way, complications are minimized.
Asunto(s)
Humanos , Dedos/trasplante , Pulgar/anomalías , Pulgar/cirugía , Resultado del TratamientoRESUMEN
BACKGROUND: Townes-Brocks syndrome (TBS) is a rare autosomal dominant condition characterized by renal, anal, limb, and auditory abnormalities. TBS diagnosis can be challenging in settings where genetic analysis is not readily available. TBS traits overlap with those of Goldenhar and VACTERL syndromes. CASE PRESENTATION: Here, we present the case of a 5-year-old Brazilian boy born with an anorectal abnormality, limb and external ears malformations, genitourinary anomalies, and a congenital heart defect. Genetic analysis revealed a SALL1 nonsense mutation. The case is discussed in the context of the current literature. CONCLUSIONS: Because of the variability in TBS clinical presentation, genetic analysis is key to the differential diagnosis of TBS relative to phenotypically similar syndromes.
Asunto(s)
Anomalías Múltiples/genética , Ano Imperforado/genética , Codón sin Sentido , Predisposición Genética a la Enfermedad/genética , Pérdida Auditiva Sensorineural/genética , Pulgar/anomalías , Factores de Transcripción/genética , Anomalías Múltiples/diagnóstico , Canal Anal/anomalías , Ano Imperforado/diagnóstico , Brasil , Preescolar , Diagnóstico Diferencial , Esófago/anomalías , Genotipo , Pérdida Auditiva Sensorineural/diagnóstico , Cardiopatías Congénitas/diagnóstico , Humanos , Riñón/anomalías , Deformidades Congénitas de las Extremidades/diagnóstico , Masculino , Fenotipo , Columna Vertebral/anomalías , Tráquea/anomalíasRESUMEN
BACKGROUND: Spastic thumb deformity in cerebral palsy significantly impedes hand function. Flexion-adduction forces across the first ray is the result from imbalance between intrinsic and extrinsic muscles. Multiples surgeries have been devised for the treatment of this condition such as contracture release and by tendon transfers for balancing the muscles forces. We report the results of a less demanding surgical technique, intended to avoid hyperextension of the metacarpophalangeal joint previously described in other series. METHODS: Five patients with cerebral palsy who underwent a surgical correction for their thumb-in-palm deformity between January 2013 and August 2014 were included. All patients were assessed postoperatively with a minimum follow up of six months. Three criteria were chosen to evaluate functional ability: capacity to perform pinch, volitional muscle control and usefulness of the hand in daily life activities. RESULTS: Patients who had surgery for spastic thumb deformity were reviewed. The thumb was maintained out of the palm in all patients. Three patients were able to perform correct pinch, achieved volitional muscle control and a more functional hand. One patient had limitation to achieve one of the evaluated daily life activities and one patient lacked active thumb movement for pinch, motor control and achieved no daily life activities. No postoperative complications were recorded. CONCLUSIONS: We present a less challenging technique that should be taken into account for the treatment of thumb-in-palm deformity. Appearance and functional improvement can be achieved with this surgical procedure avoiding disadvantages of secondary deformities.
Asunto(s)
Parálisis Cerebral/complicaciones , Deformidades Adquiridas de la Mano/cirugía , Procedimientos Ortopédicos/métodos , Tenotomía/métodos , Pulgar/anomalías , Pulgar/cirugía , Adolescente , Niño , Femenino , Estudios de Seguimiento , Deformidades Adquiridas de la Mano/etiología , Humanos , Masculino , Espasticidad Muscular/cirugía , Estudios ProspectivosRESUMEN
PURPOSE: Polydactyly is the most common congenital anomaly of the hand. It may occur as a separate event or as part of a syndrome, with preaxial polydactyly of the hand (or thumb duplication) being the most common among Caucasians. The present study analyzed the surgical results and the residual postoperative deformities of patients with thumb duplication. METHODS: Thirty-one patients with duplicated thumbs were surgically treated from January 2002 to April 2008 and 19 of them, who had returned during the late postoperative period, were evaluated. Each case was typed according to Wassel's classification into seven types and the most common category was type IV. Removal of radial component was done in 18 patients aged on average 51 months. RESULTS: Patients and parents were satisfied with both the functional results and the appearance of the reconstructed thumb. In the subjective evaluation of residual deformities, axis deviation and residual prominence were commonly found. There were coherencies in data between both subjective and objective outcomes. The children that had difficulty in holding very small objects in the subjective functional result were the same children with residual deformities in the objective result. Patient's age at surgery and Wassel's type influenced the analysis of residual postoperative deformities. There was statistically significant difference in cases of type VII and in patients operated at more than three years of age. Correlation between type VII and patient's age at time of surgery was found. The children with type VII duplication were operated later. CONCLUSIONS: For a better result, surgical correction should be performed before three years of age, thus correcting all the changes detected, mainly in type VII, in order to reduce the incidence of residual deformity. TYPE OF STUDY/LEVEL OF EVIDENCE: Therapeutic IV.
Asunto(s)
Amputación Quirúrgica , Deformidades de la Mano , Procedimientos de Cirugía Plástica , Polidactilia , Complicaciones Posoperatorias , Amputación Quirúrgica/efectos adversos , Amputación Quirúrgica/métodos , Brasil , Niño , Preescolar , Femenino , Deformidades de la Mano/diagnóstico , Deformidades de la Mano/etiología , Deformidades de la Mano/fisiopatología , Deformidades de la Mano/psicología , Humanos , Masculino , Satisfacción del Paciente , Polidactilia/diagnóstico , Polidactilia/cirugía , Complicaciones Posoperatorias/diagnóstico , Complicaciones Posoperatorias/fisiopatología , Complicaciones Posoperatorias/psicología , Radiografía/métodos , Procedimientos de Cirugía Plástica/efectos adversos , Procedimientos de Cirugía Plástica/métodos , Recuperación de la Función , Pulgar/anomalías , Pulgar/diagnóstico por imagen , Pulgar/cirugía , Resultado del TratamientoRESUMEN
Introducción: la artritis reumatoidea es una enfermedad sistémica, en la que son comunes las deformidades articulares, estas se pueden observar en el pulgar donde las de mayor frecuencia son las de Boutonniere y en cuello de cisne. Objetivo: el objetivo principal fue evaluar los resultados de la aplicación de las técnicas quirúrgicas en estas deformidades. Método: se realizó un estudio longitudinal prospectivo de intervención. Se trataron un total de 20 pacientes con este diagnóstico, atendidos en el Servicio de Miembro Superior Minifijación Externa y Microcirugía del Complejo Científico Ortopédico Internacional Frank País en el período comprendido desde enero 2011 a diciembre 2012. La evaluación de los pacientes se realizó según la escala confeccionada para este grupo particular en estudio. Resultados: se obtuvieron resultados excelentes en el 10 por ciento, buenos en el 75 por ciento y regulares en el 15 por ciento de los casos. Conclusiones: las técnicas quirúrgicas empleadas en el tratamiento de esta afección mostraron resultados alentadores(AU)
Introduction: Rheumatoid arthritis is a systemic disease, in which joint deformities are common; these deformities are observed in the thumb where the most frequent are Boutonniere and swan-neck deformities. Objective: Assess the results of the application of surgical techniques in these deformities. Method: A longitudinal prospective intervention study was conducted at Frank País International Orthopedic Scientific Complex from January 2011 to December 2012. Twenty patients with this diagnosis were treated in the Upper Limb Service for External Miniaturization and Microsurgery. The evaluation of the patients was performed according to the scale prepared for this particular study group. Results: 10 of the cases obtained excellent results, 75 percent obtained good results and 15 percent had moderate results. Conclusions: The surgical techniques used in the treatment of this condition showed encouraging results(AU)
Introduction: L'arthrite rhumatoïde est une maladie systémique caractérisée par des atteintes articulaires, surtout au niveau du pouce, telles que les déformations en boutonnière et en col de cygne. Objectif: Évaluer les résultats de l'application des techniques chirurgicales dans le traitement de ces déformations. Méthodes: Une étude longitudinale prospective interventionnelle a été réalisée. Un total de vingt patients, diagnostiqués d'arthrite rhumatoïde, ont été traités au Service d'orthopédie de membres supérieurs, mini-fixation externe et microchirurgie, au Complexe scientifique international d'orthopédie Frank Pais, dans la période comprise entre janvier 2011 et décembre 2012. Les patients de ce groupe ont été évalués selon une échelle élaborée pour cette étude. Résultats: On a obtenu des résultats excellents (10 pourcent), bons (75 pourcent), et passables (15 pourcent). Conclusions: Les techniques chirurgicales utilisées dans le traitement de cette affection ont montré des résultats encourageants(AU)
Asunto(s)
Humanos , Adolescente , Artritis Reumatoide/etiología , Artroplastia/métodos , Pulgar/anomalías , Pulgar/cirugía , Anomalías Congénitas/cirugía , Estudios Prospectivos , Estudios LongitudinalesRESUMEN
OBJECTIVE: To review perinatal Radial Ray Anomaly (RRA) cases born at the National Institute of Perinatology, Mexico, and to reveal the heterogeneous diagnoses of these patients. METHODS: All patients with RRA over a 18 mo period were included; 4/15 were detected prenatally and 11/15 postnatally. Karyotype was performed for all patients with bilateral RRA; and chromosomal breakage analysis, when the karyotype was normal. RESULTS: Fifteen RRA patients were identified: one with trisomy 18, three with an isolated defect, six with monogenic disease, four with a genetic association and one with diabetic embryopathy. Five were stillborn and two died during the early neonatal period; all of whom presented with multiple defects. Three of the live born patients and one stillborn with multiple defects had Fanconi anemia. RRAs carry a high perinatal mortality rate (47%) when they occur in association with other defects. CONCLUSIONS: The assessment of these patients needs to involve the combined use of ultrasound, clinical, genetic, cytogenetic and molecular testing. The present results indicate that the chromosome breakage test should always be performed to rule out Fanconi anemia in this group.
Asunto(s)
Radio (Anatomía)/anomalías , Pulgar/anomalías , Cúbito/anomalías , Deformidades Congénitas de las Extremidades Superiores/genética , Anomalías Múltiples/mortalidad , Anemia de Fanconi/mortalidad , Femenino , Humanos , Recién Nacido , Cariotipificación , Masculino , México/epidemiología , Diagnóstico Prenatal , Deformidades Congénitas de las Extremidades Superiores/mortalidadRESUMEN
El síndrome de Klippel-Feil es una malformación congénita de la charnela cráneo-cervical compleja que involucra vértebras y visceras, caracterizada por la tríada clásica de cuello corto, limitación de movimientos de la cabeza por la fusión de vértebras cervicales e implantación baja del cabello en la región occipital. Se presenta por falla de segmentación en el esqueleto axial del embrión. Su incidencia se estima en 1/40 000-42 000nacimientos y predomina en el sexo femenino. El objetivo del presente trabajo es describir el cuadro clínico de un paciente con síndrome de Klippel-Feil y múltiples malformaciones asociadas, entre ellas, fístula traqueoesofágica, pulgar bífido y lipomas/angiolipomas intracraneales, las cuales, hasta ahora, no han sido descritas en el síndrome, por lo que se considera un hallazgo excepcional.
The Klippel-Feil syndrome is a congenital malformation of the skull flap involving complex cervical vertebrae and organs, characterized by a classic triad: short neck, limitation of movement of the head due to cervical spine fusion and low hairline in occipital region. It results from an error in the axial skeleton segmentation of the embryo; its incidence is estimated at 1/40,000-42,000 births and predominates in females. The aim of this paper is to describe the clinical picture of a patient with Klippel-Feil syndrome and multiple malformations, including tracheoesophageal fistula, bifid thumb and intracranial lipomas/angiolipomas,that have not been previously described in the syndrome, so it is considered an exceptional finding.
Asunto(s)
Humanos , Masculino , Niño , Anomalías Múltiples/diagnóstico , Neoplasias Encefálicas/complicaciones , Deformidades de la Mano/complicaciones , Fístula Traqueoesofágica/complicaciones , Angiolipoma/complicaciones , Síndrome de Klippel-Feil/complicaciones , Pulgar/anomalías , Neoplasias Encefálicas/diagnóstico , Deformidades de la Mano/diagnóstico , Fístula Traqueoesofágica/diagnóstico , Angiolipoma/diagnóstico , Síndrome de Klippel-Feil/diagnósticoRESUMEN
The Klippel-Feil syndrome is a congenital malformation of the skull flap involving complex cervical vertebrae and organs, characterized by a classic triad: short neck, limitation of movement of the head due to cervical spine fusion and low hairline in occipital region. It results from an error in the axial skeleton segmentation of the embryo; its incidence is estimated at 1/40,000-42,000 births and predominates in females. The aim of this paper is to describe the clinical picture of a patient with Klippel-Feil syndrome and multiple malformations, including tracheoesophageal fistula, bifid thumb and intracranial lipomas/angiolipomas,that have not been previously described in the syndrome, so it is considered an exceptional finding.
El síndrome de Klippel-Feil es una malformación congénita de la charnela cráneo-cervical compleja que involucra vértebras y vísceras, caracterizada por la tríada clásica de cuello corto, limitación de movimientos de la cabeza por la fusión de vértebras cervicales e implantación baja del cabello en la región occipital. Se presenta por falla de segmentación en el esqueleto axial del embrión. Su incidencia se estima en 1/40 000-42 000 nacimientos y predomina en el sexo femenino. El objetivo del presente trabajo es describir el cuadro clínico de un paciente con síndrome de Klippel-Feil y múltiples malformaciones asociadas, entre ellas, fístula traqueoesofágica, pulgar bífido y lipomas/angiolipomas intracraneales, las cuales, hasta ahora, no han sido descritas en el síndrome, por lo que se considera un hallazgo excepcional.
Asunto(s)
Anomalías Múltiples , Angiolipoma/complicaciones , Neoplasias Encefálicas/complicaciones , Deformidades de la Mano/complicaciones , Síndrome de Klippel-Feil/complicaciones , Pulgar/anomalías , Fístula Traqueoesofágica/complicaciones , Anomalías Múltiples/diagnóstico , Angiolipoma/diagnóstico , Neoplasias Encefálicas/diagnóstico , Niño , Deformidades de la Mano/diagnóstico , Humanos , Recién Nacido , Síndrome de Klippel-Feil/diagnóstico , Masculino , Fístula Traqueoesofágica/diagnósticoRESUMEN
Although congenital thumb absence has been reported frequently in humans, their occurrence in macaques is rare. We observed three cases of spontaneous thumb defects in captive female rhesus monkeys. One animal exhibited bilateral absence and two other presented unilateral thumb absence, all with metacarpal integrity. This report presents the clinical, radiological, and genealogical details as well as possible etiologies in an attempt to draw a parallel with humans and other primate species.
Asunto(s)
Macaca mulatta/anomalías , Pulgar/anomalías , Animales , Femenino , Radiografía , Pulgar/diagnóstico por imagenRESUMEN
Congenital thumb contractures are a well described but complex deformity to manage. Thumb contractures are common in patients with arthrogryposis. Many patients with arthrogryposis develop a supination, adduction, and flexion contracture at the thumb carpometacarpal join. Despite some thumb function, their thumb position and contracted first webspace precludes effective pinch or grasp, with the thumb opposing only to the palmar space. An extension, reorientation metacarpal osteotomy that places thumb in an efficient position has the potential to improve function in of these patients. This report provides a new classification system for congenital thumb deformities that can dictate management based upon thumb joint positions. We describe a previously unreported, arthrogrypotic thumb contracture that can be managed with an extension/pronation metacarpal osteotomy with simultaneous widening of the first webspace.
Asunto(s)
Artrogriposis/cirugía , Osteotomía/métodos , Pulgar/anomalías , Pulgar/cirugía , Artrogriposis/fisiopatología , Niño , Femenino , Humanos , Masculino , Pulgar/fisiopatologíaRESUMEN
Pollicization of the long finger is rarely performed, and previously described for treating traumatic thumb and index finger loss. Because the long finger lacks the independence of motion and muscular attachments of the index finger, pollicization of the long finger requires modifications of the technique. We present the case of a 3-year-old girl with progressive macrodactyly of the thumb and index finger associated with a lipofibromatous hamartoma of the median nerve. The involved digits were severely enlarged, stiff, and nonfunctional. The child was treated with first and second ray resection followed by long-finger pollicization. Surgical pearls and pitfalls are discussed.
Asunto(s)
Dedos/anomalías , Deformidades Congénitas de las Extremidades/cirugía , Procedimientos Ortopédicos/métodos , Pulgar/anomalías , Adolescente , Niño , Preescolar , Femenino , Dedos/cirugía , Estudios de Seguimiento , Humanos , Deformidades Congénitas de las Extremidades/diagnóstico , Masculino , Estudios Retrospectivos , Trasplante de Piel/métodos , Pulgar/cirugíaAsunto(s)
Válvula Aórtica/anomalías , Enfermedades de las Válvulas Cardíacas/complicaciones , Hipospadias/complicaciones , Maxilar/anomalías , Radio (Anatomía)/anomalías , Pulgar/anomalías , Anomalías Múltiples , Enfermedad de la Válvula Aórtica Bicúspide , Niño , Diastema , Enfermedades de las Válvulas Cardíacas/diagnóstico , Humanos , MasculinoRESUMEN
Point mutations in the zone of polarizing activity regulatory sequence (ZRS) are known to cause human limb malformations. Although most mutations cause preaxial polydactyly (PPD), triphalangeal thumb (TPT) or both, a mutation in position 404 of the ZRS causes more severe Werner mesomelic syndrome (WMS) for which malformations include the distal arm or leg bones in addition to the hands and/or feet. Of more than 15 reported families with ZRS mutations, only one homozygous individual has been reported, with no change in phenotype compared with heterozygotes. Here, we describe a novel point mutation in the ZRS, 402C>T (AC007097.4:g.105548C>T), that is transmitted through two Mexican families with one homozygous individual. The homozygous phenotype for this mutation, WMS, is more severe than the numerous heterozygous individuals genotyped from both families who have TPT and PPD. A mouse transgenic enhancer assay shows that this mutation causes an expansion of the enhancer's expression domain in the developing mouse limb, confirming its pathogenicity. Combined, our results identify a novel ZRS mutation in the Mexican population, 402C>T, and suggest that a dosage effect exists for this ZRS mutation.
Asunto(s)
Deformidades Congénitas de la Mano/genética , Heterocigoto , Homocigoto , Proteínas de la Membrana/genética , Mutación , Polidactilia/genética , Pulgar/anomalías , Animales , Secuencia de Bases , Femenino , Dosificación de Gen , Genotipo , Humanos , México , Ratones , Datos de Secuencia Molecular , Linaje , Fenotipo , Polidactilia/patologíaRESUMEN
Introducción: La artrogriposis múltiple congénita es un síndrome progresivo caracterizado por articulaciones deformadas y rígidas, atrofia o ausencia muscular, contractura y engrosamiento del tejido articular capsular y periarticular y estado psíquico normal. Material y métodos: Se realizó un estudio retrospectivo de carácter descriptivo, con un nivel III de evidencia, sobre el manejo quirúrgico que recibieron pacientes con artrogriposis múltiple congénita y pulgar aducto congénito, en un período entre enero de 2005 y diciembre de 2010. Se realizaron 27 aperturas con técnica de colgajo dorso radial de índice, en 16 pacientes. En 80% de los pacientes se inició con la mano dominante, fueron nueve pacientes de sexo masculino y siete de sexo femenino, las manos operadas fueron 15 derechas y 12 izquierdas. Resultados: El diseño del colgajo permite un mejor avance y profundización del espacio y una mejoría cosmética. El ángulo intermetacarpiano primero y segundo preoperatorio fue en promedio de 20.5º, siendo el mínimo de 14º y el máximo de 27º. El promedio del ángulo intermetacarpiano primero y segundo postoperatorio fue de 50º, siendo el mínimo de 36º y el máximo de 65º, esto se observó en la clínica con una extensión activa de los pulgares así como una buena oposición del pulgar. Conclusiones: El diseño del colgajo permite un mejor avance y profundización del espacio, con un mejor balance entre los flexores y extensores, todos los pacientes tuvieron una mejor función de la extremidad y una mejoría cosmética.
Introduction: Arthrogryposis multiplex congenita is a progressive syndrome characterized by deformed and stiff joints, atrophy or absence of muscles, contracture and thickening of the capsular articular and periarticular tissue, and normal psychic status. Material and methods: A retrospective, descriptive, evidence level III study was conducted on the surgical management of patients with Arthrogryposis multiplex congenita and congenital adducted thumb between January 2005 and December 2010. Twenty-seven opening procedures were performed in 16 patients with a dorsoradial index finger flap technique. In 80% of patients the dominant hand was operated first; patients included nine males and seven females; the operated hands included 15 right and 12 left hands. Results: Flap design permits better advancement and space deepening, and cosmetic improvement. The mean preoperative first and second intermetacarpal angle was 20.5º on average, with a minimum of 14º and a maximum of 27º. The mean postoperative first and second intermetacarpal angle was 50º, with a minimum of 36º and a maximum of 65º. This was observed at the clinic with active thumb extension as well as proper thumb apposition. Conclusions: Flap design permits better advancement and space deepening, with a better balance between flexors and extensors. All patients had better limb function and cosmetic improvement.
Asunto(s)
Adolescente , Niño , Preescolar , Femenino , Humanos , Masculino , Artrogriposis/cirugía , Colgajos Quirúrgicos , Pulgar/anomalías , Pulgar/cirugía , Dedos/cirugía , Procedimientos Ortopédicos/métodos , Estudios RetrospectivosRESUMEN
OBJECTIVE: To review the clinical characteristics in a series of 25 patients with VACTERL (vertebral defects, anal atresia, tracheoesophageal fistula with esophageal atresia, cardiac defects, renal and limb anomalies) association who were ascertained for upper limb involvement. STUDY DESIGN: The study involved a review of clinical and radiologic data from patients with VACTERL association collected by a hand surgery clinic between 2004 and 2013. RESULTS: Radial axis involvement was found in all 25 patients (100%), with severe thumb function impairment in 79% and complete absence of the radius in roughly 33%. Costovertebral anomalies were the most frequent feature, found in 23 patients (92%). All 3 core features (anal atresia, tracheoesophageal fistula with esophageal atresia, and costovertebral anomalies) were present in only 12% of the patients. Twelve patients (48%) had abnormalities not part of the VACTERL spectrum, showing a specific pattern of non-VACTERL-type malformations, including genitourinary abnormalities (12%), single umbilical artery (8%), and tethered cord (8%). Previously unreported clinical findings were concurrent hypoplasia of both the odontoid process and the coccyx in 2 patients and an isolated sacral dimple in 2 patients. CONCLUSION: Upper limb involvement in VACTERL association is a specific feature of the radial axis that occurs in monolateral form in approximately 75% of cases and, when bilateral, always occurs in a nonsymmetrical fashion. Odontoid and coccygeal hypoplasia and sacral dimple are newly reported malformations of the VACTERL phenotype.
Asunto(s)
Canal Anal/anomalías , Esófago/anomalías , Cardiopatías Congénitas/epidemiología , Riñón/anomalías , Deformidades Congénitas de las Extremidades/epidemiología , Columna Vertebral/anomalías , Tráquea/anomalías , Cóccix/anomalías , Huesos Faciales/anomalías , Femenino , Cardiopatías Congénitas/diagnóstico , Cardiopatías Congénitas/terapia , Humanos , Deformidades Congénitas de las Extremidades/diagnóstico , Deformidades Congénitas de las Extremidades/terapia , Modelos Lineales , Masculino , Defectos del Tubo Neural/epidemiología , Apófisis Odontoides/anomalías , Procedimientos Ortopédicos , Radio (Anatomía)/anomalías , Región Sacrococcígea/anomalías , Pulgar/anomalías , Arterias Umbilicales/anomalías , Anomalías Urogenitales/epidemiologíaRESUMEN
INTRODUCTION: Arthrogryposis multiplex congenita is a progressive syndrome characterized by deformed and stiff joints, atrophy or absence of muscles, contracture and thickening of the capsular articular and periarticular tissue, and normal psychic status. MATERIAL AND METHODS: A retrospective, descriptive, evidence level HI study was conducted on the surgical management of patients with Arthrogryposis multiplex congenita and congenital adducted thumb between January 2005 and December 2010. Twenty-seven opening procedures were performed in 16 patients with a dorsoradial index finger flap technique. In 80% of patients the dominant hand was operated first; patients included nine males and seven females; the operated hands included 15 right and 12 left hands. RESULTS: Flap design permits better advancement and space deepening, and cosmetic improvement. The mean preoperative first and second intermetacarpal angle was 20.5 degrees on average, with a minimum of 14 degrees and a maximum of 27 degrees. The mean postoperative first and second intermetacarpal angle was 50 degrees, with a minimum of 36 degrees and a maximum of 65 degrees. This was observed at the clinic with active thumb extension as well as proper thumb apposition. CONCLUSIONS: Flap design permits better advancement and space deepening, with a better balance between flexors and extensors. All patients had better limb function and cosmetic improvement.
Asunto(s)
Artrogriposis/cirugía , Colgajos Quirúrgicos , Pulgar/anomalías , Pulgar/cirugía , Adolescente , Niño , Preescolar , Femenino , Dedos/cirugía , Humanos , Masculino , Procedimientos Ortopédicos/métodos , Estudios RetrospectivosRESUMEN
Anatomical variations of abductor pollicis longus and extensor pollicis brevis are important in clinical assessment of diseased and traumatized hand. The present case reports an unusual fusion of muscle bellies of abductor pollicis longus and extensor pollicis brevis with two separate tendons of insertion, the medial tendon inserted into the base of first metacarpal and the lateral tendon into the abductor pollicis brevis muscle. Knowledge of such anatomical variations is of utmost importance in the management of De Quervain's disease and reconstructive surgeries of hand.
Las variaciones anatómicas de los músculos abductor largo del pulgar y extensor corto del pulgar son importantes en la evaluación clínica de la mano enferma y traumatizada. El presente caso informa una inusual fusión de los vientres musculares de los Mm. abductor largo del pulgar y extensor corto del pulgar con dos tendones de inserción separados, el tendón medial se insertó en la base del primer metacarpiano y el tendón lateral en el músculo abductor corto del pulgar. El conocimiento de estas variaciones anatómicas es de importancia en el manejo de la enfermedad de De Quervain y cirugía reconstructiva de la mano.
Asunto(s)
Humanos , Músculo Esquelético/anatomía & histología , Pulgar/anatomía & histología , Tendones/anatomía & histología , Cadáver , Músculo Esquelético/anomalías , Pulgar/anomalías , Tendones/anomalíasRESUMEN
Abductor pollicis brevis muscle (APB) belongs to the foreground of the subfascial muscle thenar region, which is of great importance in the movement of the thumb on its two-joint arrangement. In this article, we report the presence of a superficial portion of the APB muscle and its relationship and discuss the available literature and the clinical implications of the presence of this variation.
El músculo abductor corto del pulgar (ACP) pertenece al primer plano muscular subfascial de la región tenar de gran importancia en los movimientos del pulgar por su disposición biarticular. En el presente artículo reportamos la presencia de un fascículo superficial del músculo ACP y sus relaciones, se analiza la literatura disponible y se discuten las implicancias clínicas de la presencia de esta variación.