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脊髓纵裂畸形与全内脏转位:病例报告及文献复习

Split cord malformation and situs inversus totalis: case report and review of the literature.

作者信息

Tubbs R Shane, Wellons John C, Oakes W Jerry

机构信息

Department of Cell Biology, University of Alabama at Birmingham, Birmingham, Alabama, USA.

出版信息

Childs Nerv Syst. 2005 Feb;21(2):161-4. doi: 10.1007/s00381-003-0895-x. Epub 2004 Jan 23.

DOI:10.1007/s00381-003-0895-x
PMID:14745579
Abstract

INTRODUCTION

Situs inversus is a rare condition of visceral transposition in which the spinal axis is rarely affected.

CASE REPORT

The authors report a patient with situs inversus totalis and Type II split cord malformation. The patient had no symptoms and presented with scoliosis.

CONCLUSIONS

Recent compelling evidence from animal models and human case reports has lead to hypotheses that defects of the midline and laterality defects (e.g., situs inversus) are etiologically related. Confirmation from additional case reports of situs inversus and split cord malformation could prove useful in determining a genetic locus for split cord malformations or implicating various chemical agents that are known to produce situs inversus as potential causative factors in the production of split cord malformations.

摘要

引言

内脏反位是一种罕见的内脏转位情况,其中脊柱轴很少受到影响。

病例报告

作者报告了一例全内脏反位合并II型脊髓纵裂畸形的患者。该患者无症状,表现为脊柱侧弯。

结论

最近来自动物模型和人类病例报告的有力证据引发了一些假设,即中线缺陷和左右侧缺陷(如内脏反位)在病因上相关。更多内脏反位和脊髓纵裂畸形病例报告的证实,可能有助于确定脊髓纵裂畸形的基因位点,或表明各种已知会导致内脏反位的化学物质是脊髓纵裂畸形产生的潜在致病因素。

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本文引用的文献

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Right-left asymmetry and situs inversus inTriturus alpestris.高山螈的左右不对称与内脏逆位
Wilhelm Roux Arch Entwickl Mech Org. 1969 Mar;163(1):1-32. doi: 10.1007/BF00576984.
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Intracranial anatomic asymmetry in situs inversus totalis.全内脏转位中的颅内解剖不对称。
Anat Embryol (Berl). 2003 Feb;206(3):199-202. doi: 10.1007/s00429-002-0286-1. Epub 2003 Jan 18.
3
Experimental split cord malformations.实验性脊髓纵裂畸形
I型和II型脊髓纵裂畸形:131例患者的个人病例系列
Childs Nerv Syst. 2013 Sep;29(9):1515-26. doi: 10.1007/s00381-013-2115-7. Epub 2013 Sep 7.
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Ectodermal syndecan-2 mediates left-right axis formation in migrating mesoderm as a cell-nonautonomous Vg1 cofactor.外胚层syndecan-2作为一种细胞非自主性Vg1辅因子,在迁移的中胚层中介导左右轴的形成。
Dev Cell. 2002 Jan;2(1):115-24. doi: 10.1016/s1534-5807(01)00107-1.
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Clinical analysis of families with heart, midline, and laterality defects.患有心脏、中线和左右侧缺陷家庭的临床分析。
Am J Med Genet. 2001 Jul 15;101(4):388-92. doi: 10.1002/ajmg.1221.
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Suggestive linkage of situs inversus and other left-right axis anomalies to chromosome 6p.内脏反位及其他左右轴异常与6号染色体短臂的可能连锁关系。
J Med Genet. 2001 Mar;38(3):182-5. doi: 10.1136/jmg.38.3.182.
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Mutation analysis of left-right axis determining genes in NOD and ICR, strains susceptible to maternal diabetes.
Teratology. 2001 Mar;63(3):119-26. doi: 10.1002/tera.1022.
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Case report: human neonatus with spina bifida, clubfoot, situs inversus totalis and cerebral deformities: sequence or accident?
Ann Anat. 2000 Nov;182(6):577-81. doi: 10.1016/S0940-9602(00)80108-9.
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Left-right axis malformations in man and mouse.
Curr Opin Genet Dev. 2000 Jun;10(3):257-61. doi: 10.1016/s0959-437x(00)00085-x.
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Mouse models for neural tube closure defects.神经管闭合缺陷的小鼠模型
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