Yuksel Murvet, Karabiber Hamza, Yuksel K Zafer, Parmaksiz Gonul
Kahramanmaras Sutcu Imam University, Radiology Dept., Kahramanmaras, Turkey.
Korean J Radiol. 2005 Oct-Dec;6(4):278-81. doi: 10.3348/kjr.2005.6.4.278.
We present here the case of a 12-year-old boy who had Klippel-Feil syndrome with renal, cardiac and multiple skeletal anomalies, and we show the relevent three-dimensional computed tomography images. Our patient had a triple renal pelvis, mitral valve prolapsus, multiple cervical vertebrae fusions, cervical ribs, hypoplasia of the right thumb, spina bifida of L5, lumbalization at the right side of S1 and a sacral curved defect. In this study, we discuss the atypical clinical features and the diagnostic value of three-dimensional CT for evaluating the skeletal anomalies of the Klippel-Feil syndrome cases.
我们在此呈现一名12岁男孩的病例,该男孩患有Klippel-Feil综合征,并伴有肾脏、心脏及多处骨骼异常,同时展示相关的三维计算机断层扫描图像。我们的患者有三重肾盂、二尖瓣脱垂、多个颈椎融合、颈肋、右手拇指发育不全、L5脊柱裂、S1右侧腰椎化以及骶骨弯曲缺损。在本研究中,我们讨论了Klippel-Feil综合征病例骨骼异常的非典型临床特征及三维CT的诊断价值。