二维及三维超声诊断胎儿Larsen综合征  

Two-dimensional and three-dimensional ultrasound diagnosis of fetal Larsen syndrome

作　　者：欧阳云淑[1] 妇产科 姜玉新[1] 戴晴[1] 孟华[1] 张一休[1] 钟定荣 于双妮 刘欣燕 

机构地区：[1]中国医学科学院北京协和医学院超声诊断科,100730 [2]病理科 [3]妇产科

出　　处：《中华医学超声杂志（电子版）》2011年第8期45-48,共4页Chinese Journal of Medical Ultrasound(Electronic Edition)

基　　金：国家科技支撑计划“重大出生缺陷和遗传病的防治研究-严重胎儿结构异常影像学产前筛查和诊断新技术的研究”(2006BAI05A04)

摘　　要：目的探讨胎儿Larsen综合征的主要超声表现及诊断要点。方法对我院诊断的两例Larsen综合征胎儿的二维及三维超声、引产后X线、CT及病理检查结果进行回顾分析。结果两例胎儿中孕期二维及三维超声均可显示双侧膝关节反屈,X线、CT及病理尸检均证实为多发大关节脱位,为Larsen综合征最具特征性的表现;另可见胎儿颜面异常(鼻骨低平)和手指异常(圆柱状手指),亦为Larsen综合征的典型表现。结论胎儿Larsen综合征具有特征性超声表现,中孕期超声检查时应注意观察胎儿肢体的姿势及活动,并仔细评估各系统异常,结合三维超声检查更有助于诊断。Objective To investigate prenatal diagnosis of Larsen syndrome with two- and three-dimensional ultrasound （3DUS）. Methods The sonographic images of two fetuses with Larsen syndrome were reviewed and compared with postnatal radiological and autopsy findings. Results Via second-trimesterultrasound, the fetuses were found with bilateral genu recurvatum which was characteristic of Larsen syndrome, and dislocation of bilateral knee joints were confirmed by autopsy. In addition, other typical features of Larsen syndrome such as facial anomalies（ low-flat nasal bone） and fingers anomalies （non-tapering fingers） were found in both cases. Conclusions Larsen syndrome is a rare congenital skeletal dysplasia characterized by large joint dislocations and facial features. Meticulous second-trimester ultrasound examination combined with 3DUS may disclose the lesion and contribute to the prognosis of affected fetuses.

关 键 词：产前超声检查 胎儿 LARSEN综合征 膝反屈 

分 类 号：R445.1[医药卫生—影像医学与核医学] R714.5[医药卫生—诊断学]