Klippel-Feil syndrome: a review of the literature

被引：47

作者：

Frikha, Rim ^{[1
]}

机构：

[1] Univ Sfax, Fac Med Sfax, Sfax, Tunisia

来源：

CLINICAL DYSMORPHOLOGY | 2020年 / 29卷 / 01期

关键词：

cervical spine; clinical heterogeneity; congenital vertebral fusion; genetic; management; radiographic abnormalities; MUTATION;

D O I：

10.1097/MCD.0000000000000301

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Klippel-Feil syndrome is a congenital defect in the formation or segmentation of the cervical spine. A wide spectrum of associated anomalies may be present. This heterogeneity has complicated clarification of the genetic causes and management of patient's with congenital vertebral fusion. In this review, we focussed on clinical heterogeneity; radiographic abnormalities and genetic etiology in Klippel-Feil syndrome. We insist on comprehensive evaluation and delineation of diagnostic and prognostic classes.

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页码：35 / 37

页数：3

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