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脊椎融合异常的有趣历史:克-费综合征

The intriguing history of vertebral fusion anomalies: the Klippel-Feil syndrome.

作者信息

Saker Erfanul, Loukas Marios, Oskouian Rod J, Tubbs R Shane

机构信息

Department of Anatomical Sciences, St. George's University, Grenada.

, 37-15 78th Street, Jackson Heights, New York City, NY, 11372, USA.

出版信息

Childs Nerv Syst. 2016 Sep;32(9):1599-602. doi: 10.1007/s00381-016-3173-4. Epub 2016 Jul 21.

Abstract

INTRODUCTION

Our knowledge and understanding of vertebral fusion, defined and eponymously known as Klippel-Feil syndrome in the early 1900s, have a long history. This uncommon finding has been identified as early as 500 B.C. in an Egyptian mummy. Many more examples of spinal vertebra fusion have been described by Greek historians and recovered by archeologists demonstrating this entity's rich history.

CONCLUSIONS

Klippel-Feil syndrome is a rare skeletal anomaly characterized by abnormal fusion of two or more vertebrae. With the advent of newer molecular technology and genetic discoveries, we now have a better understanding of the etiology and possible pathogenesis of this disease.

摘要

引言

我们对脊柱融合的认识和理解有着悠久的历史,在20世纪初它被定义为并以克利佩尔-费尔综合征而闻名。早在公元前500年,在一具埃及木乃伊中就发现了这种罕见的情况。希腊历史学家描述了更多脊柱融合的例子,考古学家也发现了相关例证,展现了这一病症丰富的历史。

结论

克利佩尔-费尔综合征是一种罕见的骨骼异常,其特征为两个或更多椎体的异常融合。随着更新的分子技术和遗传学发现的出现,我们现在对这种疾病的病因和可能的发病机制有了更好的理解。

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