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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 the main ultrasonographic features and diagnosis points of fetal Larsen’s syndrome. Methods Two-dimensional and three-dimensional ultrasonography, X-ray, CT and pathological findings of two Larsen syndrome fetuses diagnosed in our hospital were retrospectively analyzed. Results Two-dimensional and three-dimensional ultrasound during pregnancy in both fetuses showed bilateral knee joint flexion. X-ray, CT and pathological autopsy confirmed multiple dislocations, which were the most characteristic manifestations of Larsen’s syndrome. Abnormal facial (nasal low level) and abnormal finger (cylindrical finger), also a typical manifestation of Larsen’s syndrome. Conclusion Fetal Larsen’s syndrome has characteristic ultrasound manifestations. During the second trimester of pregnancy, attention should be paid to observe the posture and activities of fetal limbs. Careful assessment of the abnormalities in each system combined with three-dimensional ultrasonography is more helpful for the diagnosis.