Abstract：
Laurin-Sandrow syndrome (LSS) is an extremely rare syndrome of mirror hand and leg with less than 20 cases reported in literature. The syndrome has been attributed to a mutation in the MIPOL-1 (mirror-image polydactyly) gene located on locus 14q13.3-q21 coding for CCDC193 (coiled-coli domain containing 193) protein. It is characterised by limb, facial and central nervous system anomalies with the most constant being fibular dimelia with fibular ray duplication, polydactyly with secondary deformities of fixed equinus, knee joint instability and flexion deformity. It is associated less frequently with ulnar dimelia, thumb aplasia/hypoplasia, ulnar ray duplication, symbrachypolydactyly, \'rosette\' hands, facial dysmorphism like hypertelorism, broad columella and flat nose, CNS anomalies like aplasia/hypoplasia of corpus callosum, hydrocephalus and muscular dystonia. We report a 2-year-old male child with LSS and perform a literature review to expound on this rare syndrome. Level of Evidence: Level V (Therapeutic).
摘要：
Laurin-Sandrow综合征（LSS）是一种极为罕见的镜手和腿综合征，文献报道少于20例。该综合征归因于位于基因座14q13.3-q21上的MIPOL-1（镜像多指）基因中的突变，该突变编码CCDC193（含有193个卷曲的大肠杆菌结构域）蛋白。它的特点是四肢，面部和中枢神经系统异常，最常见的是腓骨畸形伴腓骨射线重复，多指有固定马蹄的继发性畸形，膝关节不稳定和屈曲畸形。它与尺骨不多见，拇指发育不全/发育不全,尺骨射线复制,共生多指，\'玫瑰花\'手，面部畸形，比如超端粒，宽大的小柱和扁平的鼻子，中枢神经系统异常，如call体发育不全/发育不全，脑积水和肌张力障碍。我们报告了一名2岁的LSS男性儿童，并对这种罕见的综合征进行了文献综述。证据等级：V级（治疗）。
