先天性挛缩蜘蛛指畸形六例临床分析

目的 探讨先天性挛缩蜘蛛指畸形的临床诊断和治疗方法.方法 先天性挛缩蜘蛛指畸形患者6例,男1例,女5例;年龄:5～14岁,平均7.5岁.临床表现为类马凡体形、关节屈曲畸形、脊柱侧后凸畸形、肌肉发育不全,四肢肌肌力明显低于正常;外耳廓的畸形,通常为外耳廓上半部分出现皱折.皆合并脊柱侧后凸,其中2例侧后凸于胸段,4例于胸腰段,侧凸Cobb角:85～117°,平均88.6°;后凸Cobb角:75～123°,平均93.6°.分子基因学部分(75%)表现为原纤维蛋白-2基因位点有基因突变.皆用椎弓根钉棒系统或椎板钩行后路手术矫形,其中4例行Smith-Petersen截骨矫正后凸.结果 术后侧凸Cobb角:35～52°,平均37.6°后凸Cobb角:28～54°,平均38.6°.4例得到随访,约6～9个月,平均7.8个月;2例失访.3例骨融合良好,1例术后螺钉拔出并有神经根损伤,行翻修术改用椎板钩后缓解.躯体外观和肺功能明显改善.结论 先天性挛缩蜘蛛指畸形特有的临床表现为脊柱侧后凸Cobb角度大、僵硬,椎弓根发育细小,椎弓根植入困难,后凸多需截骨矫形.要注意与马凡综合征、Stickler综合征、高胱氨酸尿症和Distal arthrogryposis等的鉴别诊断,尤其是与马凡综合征的鉴别诊断.

Clinical diagnosis and surgical treatment of congenital contractural arachnodactyly: analysis of 6 cases

OBJECTIVE: To discuss the clinical diagnosis and surgical treatment of congenital contractural arachnodactyly (CCA). METHODS: The clinical data of 6 CCA patients, 1 male and 5 female, aged 7.5 (5-14) were analyzed. All cases had kyphoscoliosis, 2 in the thoracic segments and 4 in the thoracolumbar segments. The average scoliosis Cobb angle was 88.6 degrees (85 degrees-117 degrees). The average kyphosis Cobb angle was 93.6 degrees (75 degrees-123 degrees). All of the cases underwent internal fixation with pedicle screw and lamina hooks instrumentation, in which 4 cases underwent posterior Smith-Petersen osteotomy. The diagnosis was based on a constellation of clinical findings. The clinical manifestations included marfanoid habitus, flexion contractures of multiple joints (elbow, knee, hip, and finger), kyphoscoliosis, muscular hypoplasia, and abnormal pinnae ("crumpled" outer helices). Molecular genetic testing showed mutation in the fibrillin-2 (FBN2) gene encoding the extracellular matrix microfibril. Four cases were followed up for 6-9 months. RESULTS: After operation the average Cobb angle of the scoliosis and kyphosis were 37.6 degrees (35 degrees-52 degrees) and 38.6 degrees (28 degrees-54 degrees) immediately, with 62.3% and 68.7% curve correction respectively. Three cases got excellent synostosis of posterior lamina, 1 case underwent revision with lamina hook because the distal screw was loose and hurt the nerve root, and the other 2 cases lost follow-up. The patients' body appearance and pulmonary function were obviously improved. CONCLUSION: The characteristic clinical manifestation include severe and stiff kyphoscoliosis, difficult to correct , and enhanced Cobb angle, and pedicle dysplasia of vertebral pedicle leading to difficulty in installing screws. Smith-Petersen osteotomy is often necessary. CCA should be differentiated with Marfan syndrom (MFS), Stickler syndrome, Homocystinuria, and distal arthrogryposis, especially MFS.