Second Department of Orthopedy and Traumatology, Faculty of Medicine, Comenius University in Bratislava and University Hospital Bratislava, 85107 Bratislava, Slovakia.
Institute of Medical Biology, Genetics and Clinical Genetics, Faculty of Medicine, Comenius University in Bratislava and University Hospital Bratislava, 81108 Bratislava, Slovakia.
Medicina (Kaunas). 2023 Mar 8;59(3):531. doi: 10.3390/medicina59030531.
: 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. 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 and genes. No potentially pathogenic copy number variants were detected by array-based comparative genomic hybridization. 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.
近侧桡尺骨融合（PRUS）是最常见的先天性前臂疾病，尽管其在普通人群中的患病率较低，仅有数百例报道。Pfeiffer、Poland、Holt-Oram 和其他严重的先天性综合征都包含这种异常。非综合征性病例中，孤立的 PRUS 常与 SMAD6、NOG 基因变异或性染色体非整倍体有关。一小部分伴有血液学异常的患者表现为 HOXA11 或 MECOM 基因变异。我们报告了一名非综合征性成年冰球精英运动员，其左侧前臂存在单侧近侧桡尺骨融合。在幼儿时期，他只能像右撇子一样使用曲棍球棒，并且由于缺乏旋后，直到 8 岁才确诊。X 光片显示为 Cleary-Omer Ⅲ型 PRUS，伴有桡骨头发育不良和肱尺关节轻度骨赘退行性变。由于该病症对体育活动的影响极小，因此未考虑手术干预。该运动员继续在顶级水平上从事冰球运动，并加入了国家队参加顶级比赛。问卷调查和体格检查上肢功能评估结果显示，损伤极小。受影响最大的工具是 Failla 评分，总分为 15 分，得分为 10 分。Sanger 测序的基因检测未发现 和 基因中有意义的致病性变异。通过基于阵列的比较基因组杂交未检测到潜在致病性拷贝数变异。在报告的病例中，运动员有能力应对限制前臂旋后功能的解剖变异。如今，通过不断发展的遗传学，可以全面排除更复杂的肌肉骨骼损伤和家族负担。
