RESUMEN
BACKGROUND: The prevalence of untreated congenital clubfoot among children older than walking age is higher in developing countries due to limited resources for early care after birth. The Ponseti method represents an intervention option for older, untreated children. METHODS: A metanalysis was conducted of observational studies selected through a systematic review of articles included in electronic databases (Medline, Scopus, Embase, Lilacs, and the Cochrane Library) until June 2017. A pooling analysis of proportions with 95% confidence intervals (CIs) and a publication bias assessment were performed as routine. Estimates of success, recurrence, and complication rates were weighted and pooled using the random effects model. RESULTS: Twelve studies, including 654 feet diagnosed with congenital clubfoot in children older than walking age (older than 1 year old), were included for analysis. The rate of satisfactory outcomes found via a cluster metanalysis of proportions using the random effects model was 89% (95% CI = 0.82-0.94, p < 0.01), relative to the total analysed. The recurrence rate was 18% (95% CI = 0.14-0.24, p = 0.015), and the rate of casting complications was 7% (95% CI = 0.03-0.15, p = 0.19). CONCLUSION: Application of the Ponseti method in children with untreated idiopathic clubfoot older than walking age leads to satisfactory outcomes, has a low cost, and avoids surgical procedures likely to cause complications. The results obtained exhibited considerable heterogeneity.
Asunto(s)
Pie Equinovaro/terapia , Manipulación Ortopédica/métodos , Moldes Quirúrgicos/efectos adversos , Niño , Preescolar , Pie Equinovaro/fisiopatología , Pie Equinovaro/cirugía , Femenino , Humanos , Lactante , Masculino , Manipulación Ortopédica/efectos adversos , CaminataRESUMEN
Richieri-Costa-Pereira syndrome is a rare autosomal recessive acrofacial dysostosis that has been mainly described in Brazilian individuals. The cardinal features include Robin sequence, cleft mandible, laryngeal anomalies and limb defects. A biallelic expansion of a complex repeated motif in the 5' untranslated region of EIF4A3 has been shown to cause this syndrome, commonly with 15 or 16 repeats. The only patient with mild clinical findings harbored a 14-repeat expansion in 1 allele and a point mutation in the other allele. This proband is described here in more details, as well as is his affected sister, and 5 new individuals with Richieri-Costa-Pereira syndrome, including a patient from England, of African ancestry. This study has expanded the phenotype in this syndrome by the observation of microcephaly, better characterization of skeletal abnormalities, less severe phenotype with only mild facial dysmorphisms and limb anomalies, as well as the absence of cleft mandible, which is a hallmark of the syndrome. Although the most frequent mutation in this study was the recurrent 16-repeat expansion in EIF4A3, there was an overrepresentation of the 14-repeat expansion, with mild phenotypic expression, thus suggesting that the number of these motifs could play a role in phenotypic delineation.
Asunto(s)
Pie Equinovaro/genética , ARN Helicasas DEAD-box/genética , Factor 4A Eucariótico de Iniciación/genética , Deformidades Congénitas de la Mano/genética , Laringe/fisiopatología , Deformidades Congénitas de las Extremidades/genética , Síndrome de Pierre Robin/genética , Adolescente , Adulto , Alelos , Brasil/epidemiología , Niño , Pie Equinovaro/epidemiología , Pie Equinovaro/fisiopatología , Expansión de las Repeticiones de ADN/genética , Inglaterra/epidemiología , Extremidades/fisiopatología , Femenino , Genotipo , Deformidades Congénitas de la Mano/epidemiología , Deformidades Congénitas de la Mano/fisiopatología , Humanos , Laringe/anomalías , Deformidades Congénitas de las Extremidades/fisiopatología , Masculino , Fenotipo , Síndrome de Pierre Robin/epidemiología , Síndrome de Pierre Robin/fisiopatología , Mutación Puntual/genética , Adulto JovenRESUMEN
Tel Hashomer camptodactyly syndrome (THCS) is a rare autosomal recessive camptodactyly with muscular involvement. The manifestations of THCS other than camptodactyly are clubbed feet, thenar and hypothenar hypoplasia, abnormal palmar creases and dermatoglyphic ridges, spina bifida and mitral valve prolapse. The syndrome was first described by Goodman et al in 1972 and thereafter two further cases with similar phenotype were seen. Herein, we present another case report and review of the literature of other syndromes associated with camptodactyly and mitral valve prolapse. Further cases with this syndrome need to be reported for mapping of the candidate loci. This will help in planning management and genetic counselling.
Asunto(s)
Deformidades Congénitas de la Mano , Defectos del Tabique Interatrial , Hirsutismo , Enfermedades Musculares , Procedimientos Ortopédicos/métodos , Modalidades de Fisioterapia , Adulto , Pie Equinovaro/fisiopatología , Creatina Quinasa/sangre , Dermatoglifia , Diagnóstico Diferencial , Electromiografía/métodos , Mano/diagnóstico por imagen , Deformidades Congénitas de la Mano/diagnóstico , Deformidades Congénitas de la Mano/genética , Deformidades Congénitas de la Mano/fisiopatología , Deformidades Congénitas de la Mano/terapia , Defectos del Tabique Interatrial/diagnóstico , Defectos del Tabique Interatrial/genética , Defectos del Tabique Interatrial/fisiopatología , Defectos del Tabique Interatrial/terapia , Hirsutismo/diagnóstico , Hirsutismo/genética , Hirsutismo/fisiopatología , Hirsutismo/terapia , Humanos , Masculino , Insuficiencia de la Válvula Mitral/diagnóstico por imagen , Prolapso de la Válvula Mitral/diagnóstico por imagen , Enfermedades Musculares/diagnóstico , Enfermedades Musculares/genética , Enfermedades Musculares/fisiopatología , Enfermedades Musculares/terapia , Conducción Nerviosa , Linaje , Radiografía , Resultado del Tratamiento , UltrasonografíaRESUMEN
UNLABELLED: The Ponseti technique for treating clubfoot has been popularized for idiopathic clubfoot and more recently several syndromic causes of clubfoot. We asked whether it could be used to treat recurrent clubfoot following failed posteromedial release. We retrospectively reviewed 58 children (83 clubfeet) treated by the Ponseti technique for recurrent deformity after posteromedial release in three centers. The minimum followup was 24 months (average, 45 months; range, 24-80 months). We determined initial and final Pirani scores and range of motion of the ankle and subtalar joint. Plantigrade and fully corrected feet were obtained in 71 feet (86%); 11 feet obtained partial correction; one patient failed treatment and underwent another posteromedial release. Recurrences occurred in nine patients (12 feet or 14%). Initial Pirani scores improved in all but one patient; severity of deformity was also inferred by number of casts used for treatment. The age at treatment and numbers of casts did not influence the scores of Pirani et al. The scores were similar among the three orthopaedic surgeons. LEVEL OF EVIDENCE: Level IV, therapeutic study. See Guidelines for Authors for a complete description of levels of evidence.
Asunto(s)
Tendón Calcáneo/cirugía , Articulación del Tobillo/fisiopatología , Tirantes , Moldes Quirúrgicos , Pie Equinovaro/terapia , Manipulaciones Musculoesqueléticas , Transferencia Tendinosa , Adolescente , Factores de Edad , Fenómenos Biomecánicos , Brasil , Niño , Preescolar , Pie Equinovaro/diagnóstico por imagen , Pie Equinovaro/fisiopatología , Terapia Combinada , Europa (Continente) , Femenino , Humanos , Lactante , Masculino , Proyectos Piloto , Radiografía , Rango del Movimiento Articular , Recurrencia , Estudios Retrospectivos , Índice de Severidad de la Enfermedad , Articulación Talocalcánea/fisiopatología , Resultado del TratamientoRESUMEN
The Ponseti method of treating club foot has been shown to be effective in children up to two years of age. However, it is not known whether it is successful in older children. We retrospectively reviewed 17 children (24 feet) with congenital idiopathic club foot who presented after walking age and had undergone no previous treatment. All were treated by the method described by Ponseti, with minor modifications. The mean age at presentation was 3.9 years (1.2 to 9.0) and the mean follow-up was for 3.1 years (2.1 to 5.6). The mean time of immobilisation in a cast was 3.9 months (1.5 to 6.0). A painless plantigrade foot was obtained in 16 feet without the need for extensive soft-tissue release and/or bony procedures. Four patients (7 feet) had recurrent equinus which required a second tenotomy. Failure was observed in five patients (8 feet) who required a posterior release for full correction of the equinus deformity. We conclude that the Ponseti method is a safe, effective and low-cost treatment for neglected idiopathic club foot presenting after walking age.
Asunto(s)
Pie Equinovaro/cirugía , Procedimientos Ortopédicos/métodos , Tendón Calcáneo/cirugía , Calcáneo/patología , Moldes Quirúrgicos , Niño , Preescolar , Pie Equinovaro/patología , Pie Equinovaro/fisiopatología , Pie Equino/cirugía , Femenino , Pie/patología , Pie/cirugía , Humanos , Lactante , Masculino , Complicaciones Posoperatorias , Rango del Movimiento Articular/fisiología , Reoperación , Estudios Retrospectivos , Astrágalo/patología , Factores de Tiempo , Resultado del TratamientoRESUMEN
The purpose of this study was to evaluate our experience with treatment of clubfoot in myelomeningocele. We evaluated 45 children with clubfoot surgically treated at a mean age of 36 months. We evaluated each patient's medical record and performed a physical examination. Based on the clinical criteria by de Carvalho Neto, we obtained 61% good results, 26% fair results and 13% poor results. Neither age at surgery nor neurosegmental level have any statistical influence on final outcome. We find that a radical posteromedial release without internal fixation is a satisfactory option for clubfoot with myelodysplasia.
Asunto(s)
Pie Equinovaro/complicaciones , Pie Equinovaro/cirugía , Espina Bífida Quística/complicaciones , Moldes Quirúrgicos , Pie Equinovaro/fisiopatología , Femenino , Humanos , Lactante , Masculino , Actividad Motora/fisiología , Aparatos Ortopédicos , Complicaciones Posoperatorias , Estudios Retrospectivos , Resultado del TratamientoRESUMEN
Neglected congenital clubfoot in adults has been described in literature, but is not common to see adult patients with this orthopaedic disorder in developed countries with 30 years of follow-up. We report an asymptomatic case of neglected congenital clubfoot in an adult, who is incidentally seeking treatment for her 18-month-old son with congenital clubfoot. Although the cosmetic appearance is unacceptable, this mother remarkably has no functional limitations and for this reason she refuses any surgical treatment for her foot. To our knowledge, this is the first report of an untreated congenital clubfoot with 30 years follow-up.