TY -的A2 Korovessis Panagiotis AU - De Maio费尔南多AU - Fichera,亚历山德罗盟- De Luna Vincenzo AU -曼奇尼,费德里科•盟——Caterini罗伯托PY - 2016 DA - 2016/12/05 TI -马凡氏综合症:骨科方面的经验介绍中心的罕见疾病的诊断SP - 8275391六世- 2016 AB -马凡氏综合征是由于fibrillin-1基因的突变( FBN1)。最重要的特性影响心血管系统,眼睛,骨架。本研究的目的是报告最常见的肌肉骨骼改变观察146例马凡氏综合征影响。54个病人(37%)接受了心脏手术,其中11收到紧急手术治疗急性主动脉夹层。异位慢病毒被发现在68名患者(47%)而近视3 d以上发生在46名患者(32%)。肌肉骨骼异常观察马凡氏综合症患者。在88名患者(60.2%)、相关的“手腕,拇指标志”在场;58例(39.7%),漏斗胸carinatum畸形;44例(30.1%),漏斗胸举;49例(33.5%),严重的扁平足; in 31 patients (21.2%), hindfoot deformity; in 54 patients (36.9%), reduced US/LS ratio or increased arm span-height ratio; in 37 patients (25.3%), scoliosis or thoracolumbar kyphosis; in 22 patients (15%), reduced elbow extension (170° or less). Acetabular protrusion was ascertained on radiographs in 27 patients (18.4%). Orthopaedic aspects of the disease are very important for an early diagnosis; however, we have not observed definite correlations between the extent of orthopaedic involvement and aortic complications. SN - 2090-3464 UR - https://doi.org/10.1155/2016/8275391 DO - 10.1155/2016/8275391 JF - Advances in Orthopedics PB - Hindawi Publishing Corporation KW - ER -