Ten Cate Feikje Julia, van Doesburg Margriet Harmke Maria
Amsterdam University Medical Center (AUMC), Department of Plastic, Reconstructive and Hand surgery, Meibergdreef 9, 1105 AZ, Amsterdam, The Netherlands.
JPRAS Open. 2025 Apr 5;44:479-486. doi: 10.1016/j.jpra.2025.03.023. eCollection 2025 Jun.
BACKGROUND/PURPOSE: Congenital upper limb anomalies (CULAs) exhibit a wide range of manifestations. For this reason, the Oberg-Manske-Tonkin (OMT) classification was introduced to achieve etiologically correct and universal classification. Combined use of codes has been advocated to prevent the loss of important phenotypic information in compound phenotypes. Therefore, the aim of our study was to present a description of our population over the last 10 years, using the most recent (2020) version of the OMT and combined documentation when necessary.
All patients who visited our tertiary referral hospital between 2010 and 2020 were analyzed retrospectively and classified using the OMT. Combined registration was allowed in compound phenotypes and combinations were analyzed.
Overall, 797 patients were included in our registry. Most anomalies were classified in the malformations group and 9.5% required combined documentation; 13.5% of the possible combinations were observed in opposite extremities. Syndactyly, polydactyly (radial and ulnar), and camptodactyly were the most common diagnoses. The most frequently observed recurring combinations were brachydactyly and clinodactyly, ulnar longitudinal deficiency and simple syndactyly, and simple syndactyly and clinodactyly.
Approximately one-tenth of our population required combined documentation. When using compound documentation, we recommend providing information regarding the presence or absence of a combination in the same extremity. Failing to do so could lead to loss of equally important phenotypic information as disregarding combinations would. Epidemiologic registries such as ours, allow outcome comparison and provide information for research on underlying etiologies. Additionally, our research focused on the analysis of combinations of codes.Level of evidence: 3.
背景/目的：先天性上肢畸形（CULA）表现出广泛的症状。因此，引入了奥伯格-曼斯克-汤金（OMT）分类法以实现病因学上正确且通用的分类。有人主张联合使用编码以防止复合表型中重要表型信息的丢失。因此，我们研究的目的是使用最新（2020年）版的OMT并在必要时进行联合记录，来描述我们过去10年的患者群体。
对2010年至2020年间就诊于我们三级转诊医院的所有患者进行回顾性分析，并使用OMT进行分类。复合表型允许联合记录，并对组合进行分析。
总体而言，我们的登记册纳入了797例患者。大多数畸形被归类于畸形组，9.5%需要联合记录；13.5%的可能组合出现在对侧肢体。并指、多指（桡侧和尺侧）以及屈曲指是最常见的诊断。最常观察到的重复组合是短指和弯指、尺侧纵列发育不全和单纯并指，以及单纯并指和弯指。
我们的患者群体中约十分之一需要联合记录。使用复合记录时，我们建议提供同一肢体中组合存在与否的信息。不这样做可能会导致与忽视组合同样重要的表型信息丢失。像我们这样的流行病学登记册允许进行结果比较，并为潜在病因的研究提供信息。此外，我们的研究侧重于编码组合的分析。证据水平：3级。
