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克-费二氏综合征

Klippel Feil Syndrome

作者信息

Menger Richard P., Rayi Appaji, Notarianni Christina

机构信息

Louisiana State University HSC

Charleston Area Medical Center

Abstract

Klippel-Feil syndrome is a complex, congenital condition characterized by the abnormal fusion of 2 or more cervical vertebrae due to the failure of proper segmentation during early fetal development. This fusion results in a shortened neck due to the failure of proper segmentation during early fetal development, leading to congenital cervical vertebral fusion. The condition was first described by Maurice Klippel and Andre Feil in 1912. Klippel-Feil syndrome presents with the classic triad of a short neck, low posterior hairline, and limited neck mobility (see . Classic Triad of Klippel-Feil Syndrome). Since its initial description, Klippel-Feil syndrome has been associated with multiple spinal and extraspinal abnormalities. These anomalies may contribute to chronic headaches, restricted neck motion, and neck muscle pain. Furthermore, Klippel-Feil syndrome can lead to spinal stenosis, neurological deficits, cervical spinal deformities, and instability. Additionally, the condition may present with various other congenital anomalies.

摘要

克利佩尔-费尔综合征是一种复杂的先天性疾病,其特征是由于胎儿早期发育过程中节段化异常,导致两个或更多颈椎异常融合。这种融合导致颈部缩短,原因是胎儿早期发育过程中节段化异常,进而导致先天性颈椎融合。该病症于1912年由莫里斯·克利佩尔和安德烈·费尔首次描述。克利佩尔-费尔综合征表现为典型的三联征:短颈、低后发际线和颈部活动受限(见图。克利佩尔-费尔综合征的典型三联征)。自首次描述以来,克利佩尔-费尔综合征一直与多种脊柱和脊柱外异常有关。这些异常可能导致慢性头痛、颈部活动受限和颈部肌肉疼痛。此外,克利佩尔-费尔综合征可导致椎管狭窄、神经功能缺损、颈椎畸形和不稳定。此外,该病症还可能伴有各种其他先天性异常。

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