Frikha Rim
Faculty of Medicine of Sfax, University of Sfax, Tunisia.
Clin Dysmorphol. 2020 Jan;29(1):35-37. doi: 10.1097/MCD.0000000000000301.
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.
克-费综合征是一种颈椎形成或分节的先天性缺陷。可能存在多种相关异常。这种异质性使得先天性椎体融合患者的遗传病因阐明及治疗变得复杂。在本综述中，我们聚焦于克-费综合征的临床异质性、影像学异常及遗传病因。我们强调对诊断和预后类别进行全面评估和描述。
