对克利佩尔-费尔综合征伴发畸形临床特征的观察

Clinical characteristics of anomalies associated with Klippel-Feil syndrome

目的总结克利佩尔-费尔综合征(KFS)伴发畸形的临床特征。方法对2015年1月至2021年6月中国医学科学院北京协和医院骨科收治的KFS患者78例的临床资料进行回顾性分析。所有患者均接受全脊柱正侧位X线、全脊柱CT平扫+矢状位和三维重建以及全脊柱MRI检查,并接受肺功能、超声心动图和腹部超声等检查以及对伴发其他系统畸形的评估。结果78例KFS患者中,男43例,女35例,年龄(12.6±9.5)(2~45)岁;其中脊柱侧凸畸形(44例,56.4%)为发生率最高的伴发畸形。Ⅲ型KFS患者合并脊柱侧凸发生率为73.1%,显著高于Ⅱ型和Ⅰ型KFS患者(62.5%和41.7%),差异有统计学意义(P=0.04)。合并脊柱侧凸畸形的KFS患者伴发其他系统畸形发生率更高(P<0.01)。其他伴发畸形依次为椎管内畸形(27例,34.6%)、泌尿系统畸形(13例,16.7%)、心脏畸形(12例,15.4%)、面-眼-耳部畸形(7例,9.0%)以及腹部和(或)胃肠道畸形(4例,5.1%)。结论KFS患者最常见的伴发畸形是脊柱侧凸,其中长节段颈椎融合畸形患者合并脊柱侧凸的发生率更高,且更易合并其他系统畸形。在对患者进行骨骼畸形常规评估的同时,应完善全脊柱MRI、超声心动图和腹部超声等检查,对KFS伴发畸形进行全面系统的评估,以便尽早进行临床干预。

Objective To summarize clinical characteristics of anomalies associated with Klippel-Feil syndrome(KFS).Methods Clinical data of 78 patients with KFS admitted to the Department of Orthopedics,Peking Union Medical College Hospital,CAMS&PUMC from January 2015 to June 2021 were retrospectively analyzed.All patients underwent X-ray,CT and MRI of the whole spine,pulmonary function test,echocardiography and abdominal ultrasound,and were evaluated for the associated anomalies.Results All the patients included 43 males and 35 females,with an age of(12.6±9.5)(2-45)years.Scoliosis was found in 44(56.4%)patients,and its incidence was the highest incidence of anomaly associated with KFS.The incidence of scoliosis in patients with typeⅢKFS(73.1%)was significantly higher than that in patients with KFSⅡ(62.5%)and KFSⅠ(41.7%)(P=0.04).KFS patients with scoliosis had a higher incidence of other associated anomalies(P<0.01).Other associated anomalies included intraspinal malformations(27 cases,34.6%),urological malformations(13 cases,16.7%),cardiac malformations(12 cases,15.4%),facial-eye-ear malformations(7 cases,9.0%)and abdominal/gastrointestinal malformations(4 cases,5.1%).Conclusion Scoliosis is the most common associated anomaly in KFS patients.KFS patients with long-segment cervical fusion have a higher risk of scoliosis and are more likely to combine with other organ anomalies.MRI of whole spine,echocardiography and abdominal ultrasound in addition to the routine evaluation of skeletal malformations should be recommended to improve the comprehensive and systematic evaluation of anomalies associated with KFS and the clinical intervention should be provided as soon as possible.