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劳林-桑德罗综合征:病例报告及文献复习。

Laurin-Sandrow Syndrome: A Case Report and Review of Literature.

机构信息

Institute for Research and Rehabilitation of Hand & Department of Plastic Surgery, Govt Stanley Medical College & Hospital, Chennai, India.

出版信息

J Hand Surg Asian Pac Vol. 2022 Aug;27(4):742-746. doi: 10.1142/S2424835522720389. Epub 2022 Aug 8.

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 V (Therapeutic).

摘要

Laurin-Sandrow 综合征(LSS)是一种极其罕见的镜像手和镜像足综合征,文献中报道的病例少于 20 例。该综合征归因于位于 14q13.3-q21 上的 MIPOL-1(镜像多趾)基因的突变,该基因编码 CCDC193(卷曲螺旋域包含 193)蛋白。其特征为肢体、面部和中枢神经系统异常,最常见的是腓骨重复的腓骨多趾畸形,伴有固定马蹄内翻足的次级畸形、膝关节不稳定和屈曲畸形。较少见的有尺骨多趾、拇指缺如/发育不良、尺骨射线重复、并指多趾畸形、“玫瑰花结”手、面中部发育不良如眼距过宽、鼻中隔宽和塌鼻、中枢神经系统异常如胼胝体缺如/发育不良、脑积水和肌肉性营养不良。我们报告了一例 2 岁男性 LSS 患儿,并进行了文献复习,以阐述这一罕见综合征。 等级 V(治疗)。

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