Unusual presentation of congenital radioulnar synostosis with osteoporosis, fragility fracture and nonunion: A case report and review of literature

Yang, Zhanyu; Ni, Jiangdong; Long, Zhe; Kuang, Letian; Tao, Shibin

doi:10.12998/wjcc.v8.i8.1538

Cited by 3 publications

(2 citation statements)

References 46 publications

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“…Patients with PRUS are not able to handle their daily activities that require supination. The abduction in the shoulder joint compensates for the lack of pronation and missing forearm supination is achieved with shoulder adduction [ 31 ]. Despite the ability to compensate for the lack of pronation and supination with the shoulder and radiocarpal joint, this mechanism fails in cases of severe hyper-pronation.…”

Section: Discussionmentioning

confidence: 99%

Congenital Proximal Radioulnar Synostosis in an Elite Athlete–Case Report

et al. 2023

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Background and Objectives: Proximal radioulnar synostosis (PRUS) is the most frequent congenital forearm disorder, although the prevalence in the general population is rare with a few hundred cases reported. Pfeiffer, Poland, Holt–Oram, and other serious congenital syndromes contain this abnormality. Non-syndromic cases with isolated PRUS very often exhibit as SMAD6, NOG genes variants, or sex chromosome aneuploidy. A subgroup of patients with haematological abnormalities presents with HOXA11 or MECOM genes variants. Case report: We present a non-syndromic adult elite ice-hockey player with unilateral proximal radioulnar synostosis of the left forearm. In early childhood he was able to handle the hockey stick only as a right-handed player and the diagnosis was set later at the age of 8 years due to lack of supination. Cleary–Omer Type III PRUS was found on x-ray with radial head hypoplasia and mild osteophytic degenerative changes of humeroulnar joint. Since the condition had minimal impact on sports activities, surgical intervention was not considered. The player continued his ice-hockey career at the top level and joined a national team for top tournaments. Upper extremity function assessment with questionnaires and physical testing resulted in minimal impairment. The most compromised tool was the Failla score with 10 points from a total of 15. Genetic testing with Sanger sequencing revealed no significant pathogenic variant in SMAD6, NOG, and GDP5 genes. No potentially pathogenic copy number variants were detected by array-based comparative genomic hybridization. Conclusions: In the reported case, the ability of an athlete to deal with an anatomic variant limiting the forearm supination is demonstrated. Nowadays, a comprehensive approach to rule out more complex musculoskeletal impairment and family burden is made possible by evolving genetics.

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Section: Discussionmentioning

confidence: 99%

Congenital Proximal Radioulnar Synostosis in an Elite Athlete–Case Report

et al. 2023

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“…El diagnóstico se basa en la representación de la fusión ósea de los extremos proximales del cúbito y del radio por Rayos X (Rx) o Tomografía computarizada (TAC). De acuerdo a los resultados de imagen se puede clasificar a la enfermedad dentro de las clasificaciones de Wilkie, Cleary y Omer o Braña y Montes (6)(7)(8)(9). El tratamiento puede ser conservador o quirúrgico dependiendo de la gravedad de la anomalía y del rango de movimiento.…”

Section: Introduciónunclassified

Sinostosis Radiocubital Congénita. Reporte de caso

Sempertegui Moscoso,

Herrera Jaramillo

2023

Salud ConCienc.

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Introducción : la sinostosis radiocubital congénita es una malformación desarrollada en la vida fetal temprana, catalogada como una condición rara. Consiste en una osificación heterotópica de la membrana interósea del antebrazo que bloquea los movimientos rotacionales, limitando considerablemente la realización de actividades diarias. Posee un patrón de herencia familiar, autosómica dominante, sin predilección por el sexo y es bilateral en el 60 al 80% de los casos. En este reporte de caso se presenta un paciente varón de 5 años, de etnia indígena que reside en la ciudad de Sucúa, cantón de la provincia de Morona Santiago, diagnosticado con sinostosis radiocubital congénita bilateral desde hace 1 año. Objetivo general: realizar una actualización sobre sinostosis radiocubital congénita y reporte de un caso clínico presentado en el Hospital Básico de Sucúa. Conclusiones: la sinostosis radiocubital congénita es una enfermedad rara, difícil de identificar en los primeros años de vida. El análisis de imágenes de la fusión ósea de los extremos proximales de los huesos cúbito y radio por radiografía o tomografía computarizada actualmente es el único método validado de diagnóstico. El tratamiento quirúrgico es oportuno antes de que el infante inicie su vida escolar, debido al tiempo de recuperación y rehabilitación que requiere este tipo de cirugía. Al no existir un estándar de oro de tratamiento, al paciente se le deberá tratar de acuerdo con el grado de discapacidad que presente.

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Upper extremity asymmetry due to nerve injuries or central neurologic conditions: a scoping review

Bhat,

Shin,

Kaufman

2023

J NeuroEngineering Rehabil

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Background Peripheral nerve injuries and central neurologic conditions can result in extensive disabilities. In cases with unilateral impairment, assessing the asymmetry between the upper extremity has been used to assess outcomes of treatment and severity of injury. A wide variety of validated and novel tests and sensors have been utilized to determine the upper extremity asymmetry. The purpose of this article is to review the literature and define the current state of the art for describing upper extremity asymmetry in patients with peripheral nerve injuries or central neurologic conditions. Method An electronic literature search of PubMed, Scopus, Web of Science, OVID was performed for publications between 2000 to 2022. Eligibility criteria were subjects with neurological conditions/injuries who were analyzed for dissimilarities in use between the upper extremities. Data related to study population, target condition/injury, types of tests performed, sensors used, real-world data collection, outcome measures of interest, and results of the study were extracted. Sackett’s Level of Evidence was used to judge the quality of the articles. Results Of the 7281 unique articles, 112 articles met the inclusion criteria for the review. Eight target conditions/injuries were identified (Brachial Plexus Injury, Cerebral Palsy, Multiple Sclerosis, Parkinson’s Disease, Peripheral Nerve Injury, Spinal Cord Injury, Schizophrenia, and stroke). The tests performed were classified into thirteen categories based on the nature of the test and data collected. The general results related to upper extremity asymmetry were listed for all the reviewed articles. Stroke was the most studied condition, followed by cerebral palsy, with kinematics and strength measurement tests being the most frequently used tests. Studies with a level of evidence level II and III increased between 2000 and 2021. The use of real-world evidence-based data, and objective data collection tests also increased in the same period. Conclusion Adequately powered randomized controlled trials should be used to study upper extremity asymmetry. Neurological conditions other than stroke should be studied further. Upper extremity asymmetry should be measured using objective outcome measures like motion tracking and activity monitoring in the patient’s daily living environment.

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Unusual presentation of congenital radioulnar synostosis with osteoporosis, fragility fracture and nonunion: A case report and review of literature

Cited by 3 publications

References 46 publications

Congenital Proximal Radioulnar Synostosis in an Elite Athlete–Case Report

Congenital Proximal Radioulnar Synostosis in an Elite Athlete–Case Report

Sinostosis Radiocubital Congénita. Reporte de caso

Upper extremity asymmetry due to nerve injuries or central neurologic conditions: a scoping review

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