Yassir Walid K, Grottkau Brian E, Goldberg Michael J
The Department of Orthopaedics, Tufts-New England Medical Center, Tufts University School of Medicine, Boston, Massachusetts, USA.
J Pediatr Orthop. 2003 Jan-Feb;23(1):94-8.
Sixteen individuals with Costello syndrome underwent a complete history, physical examination, and medical record review. Medical history and record review were performed for two additional children with Costello syndrome. The POSNA Functional Health Outcome Questionnaire Baseline Assessment was completed by the parents of all 18 children. All the children were below the fifth percentile for height and all had ligamentous laxity. All children demonstrated delayed walking and none was able to run. Orthopaedic problems included tight heel cords, congenital vertical talus, planovalgus feet, hip subluxation, kyphosis, scoliosis, radial head subluxation, elbow flexion deformity, reduced shoulder range of motion, and limitation of overhead activity. Foot problems were most frequently encountered. Two children had no orthopaedic symptoms. All children with Costello syndrome had poor scores on the POSNA Functional Health Outcome Questionnaire. Orthopaedic problems are a significant part of Costello syndrome, and affected individuals should be evaluated and followed-up regularly by an orthopaedic surgeon.
16名患有科斯特洛综合征的个体接受了全面的病史采集、体格检查及病历回顾。另外两名患有科斯特洛综合征的儿童也进行了病史和病历回顾。所有18名儿童的家长均完成了POSNA功能健康结局问卷基线评估。所有儿童的身高均低于第五百分位，且都有韧带松弛。所有儿童均出现学步延迟，且无人能够跑步。骨科问题包括跟腱挛缩、先天性垂直距骨、扁平外翻足、髋关节半脱位、脊柱后凸、脊柱侧凸、桡骨头半脱位、肘部屈曲畸形、肩关节活动范围减小以及上肢活动受限。足部问题最为常见。两名儿童没有骨科症状。所有患有科斯特洛综合征的儿童在POSNA功能健康结局问卷上的得分都很低。骨科问题是科斯特洛综合征的重要组成部分，受影响的个体应由骨科医生定期进行评估和随访。
