Fibular dimelia

  • 文章类型: Case Reports
    我们介绍一例先天性腓骨畸形或腓骨复制伴胫骨发育不全,距骨复制和具有两个完整轴前射线的二倍体。据我们所知,这种关联尚未在文献中发表。我们讨论了这种罕见疾病的独特特征和手术治疗。
    方法:患者是一名3岁儿童,患有先天性单侧腓骨裂,胫骨发育不全,向我们呈现的距骨重复和二足畸形与腿长差异以及右脚和脚踝的渐进性马蹄变形。她接受了内侧两条射线切除的手术治疗,楔形文字,舟骨,重复的距骨,骨关节和内侧副腓骨重建踝关节囊和足部重建。
    结论:由于病情的罕见性,没有描述的治疗方案。考虑到致残和难看的进行性畸形,决定进行切除。
    结论:所介绍的病例是一种非常罕见的重复畸形,我们认为这是独一无二的。由于进行性畸形,根据治疗原则进行了手术治疗。未来随访观察下肢关节的生长发育,尤其是脚踝,以及腿部长度均衡的治疗将是必需的。
    UNASSIGNED: We present a case of Congenital fibular dimelia or fibula duplication with tibial hypoplasia, talar duplication and diplopodia with two complete pre-axial rays. This association has not been published in the literature to our knowledge. We discuss the unique features and surgical management of this rare condition.
    METHODS: The patient is a 3 year old child with congenital unilateral fibular dimelia, tibial hypoplasia, talar duplication and diplopodia who presented to us with leg length discrepancy and progressive equinovarus deformation of the right foot and ankle. She was surgically treated by excision of the medial two rays, cuneiforms, navicular, duplicate talus, os calcis and medial accessory fibula with reconstruction of the ankle joint capsule and foot reconstruction.
    CONCLUSIONS: Due to the rarity of the condition there is no described treatment protocol. It was decided to do resection taking in consideration of the disabling and unsightly progressive deformity.
    CONCLUSIONS: The case presented is a very rare of type of duplication deformity which we believe to be unique. The surgical treatment has been performed due to progressive deformity based on principles of management. Future follow up to observe growth and development of the lower limb joints, especially the ankle, as well as treatment for leg length equalization will be required.
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  • 文章类型: Journal Article
    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)。
    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).
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