Koehler Daniel M, Goldfarb Charles A, Snyder-Warwick Alison, Roberts Summer, Wall Lindley B
Department of Orthopaedic Surgery.
Department of Plastic and Reconstructive Surgery, Washington University School of Medicine.
J Hand Surg Am. 2019 Jul;44(7):548-555. doi: 10.1016/j.jhsa.2019.02.020. Epub 2019 Apr 25.
To investigate the distinguishing morphological characteristics of the upper extremities in children with Möbius syndrome.
Twenty-seven involved extremities in 14 patients with a diagnosis of Möbius syndrome were identified at 2 institutions. Medical records, radiographs, and clinical photographs were evaluated. Congenital hand differences were classified according to the Oberg, Manske, and Tonkin classification, and hands with symbrachydactyly were classified by the Blauth and Gekeler classification. The presence of other congenital anomalies was catalogued.
There was bilateral involvement in 93% of patients with congenital hand anomalies. Twelve patients demonstrated congenital hand anomalies and 2 patients had been diagnosed with arthrogryposis. Among the 12 patients with congenital hand anomalies, 21 hands were classifiable as symbrachydactyly by the Oberg, Manske, and Tonkin classification and could be categorized by the Blauth and Gekeler classification. Short finger type was the most common subtype of symbrachydactyly, present in 13 hands. Eleven of these 13 patients (85%) were primarily affected on the radial side of the hand. Proximal arm involvement was identified in 2 patients with symbrachydactyly, both of whom had Poland syndrome and an absent pectoralis major.
Symbrachydactyly in Möbius syndrome differs from the typical presentation of symbrachydactyly. Characteristically, there is a bilateral presentation with a strong predilection for radially based brachydactyly. These described characteristics may help the hand surgeon appropriately assess patients, especially those with radial-sided symbrachydactyly.
TYPE OF STUDY/LEVEL OF EVIDENCE: Diagnostic III.
研究莫比乌斯综合征患儿上肢的显著形态学特征。
在两家机构中确定了14例诊断为莫比乌斯综合征患者的27条受累肢体。对病历、X线片和临床照片进行评估。先天性手部差异根据奥伯格、曼斯克和汤金分类法进行分类，短指畸形手根据布劳特和盖克勒分类法进行分类。记录其他先天性异常的存在情况。
93%的先天性手部异常患者为双侧受累。12例患者表现出先天性手部异常，2例患者被诊断为关节挛缩症。在12例先天性手部异常患者中，21只手根据奥伯格、曼斯克和汤金分类法可归类为短指畸形，并可根据布劳特和盖克勒分类法进行分类。短指型是短指畸形最常见的亚型，有13只手。这13例患者中有11例（85%）主要手部桡侧受累。在2例短指畸形患者中发现近端手臂受累，这2例患者均患有波兰综合征且胸大肌缺如。
莫比乌斯综合征中的短指畸形与典型的短指畸形表现不同。其特征为双侧出现，强烈倾向于桡侧短指。这些所描述的特征可能有助于手外科医生对患者进行适当评估，尤其是那些患有桡侧短指畸形的患者。
研究类型/证据水平：诊断性研究III级。
