Klippel-Feil syndrome: patterns of bony fusion and wasp-waist sign

Abstract

Cervical spine radiographs of 33 patients with Klippel-Feil syndrome were studied for patterns of bony fusion and presence of wasp-waist sign. Five patients were found to have the classic features of massive cervical fusion. Two patients with two adjacent levels of bony fusion showed a wasp-waist sign. Fusion at one level of the cervical spine accounted for 26 remaining cases. The wasp-waist sign was observed in 14 of the cases in which there was complete vertebral interbody fusion, making this finding a valuable radiologic sign. Partial anterior or posterior vertebral interbody fusion, or isolated fusion of the neural arch, however, may or may not be associated with the wasp-waist sign. Klippel-Feil syndrome, easy to recognize when presenting with classic features or when associated with the wasp-waist sign, may be confused with a variety of other entities.

De novo inv(2)(p12q34) associated with Klippel-Feil anomaly and hypodontia

“…It has been suggested that KFA refers to a heterogeneous group of many different clinical entities, [5,10,17,20,23,29] characterised by congenital vertebral fusion of the cervical spine. Cervical vertebral fusion, however, is known to be present in the phenotype of several syndromes such as Wildervanck syndrome (cervico-oculo- Actually, vertebral fusion is an inaccurate term since the condition is considered to result from improper segmentation of the mesodermal somites, which can be traced back to the 3rd embryonic week [24].…”

The dysmorphic cervical spine in Klippel-Feil syndrome: interpretations from developmental biology

“…[39,57] Assimilation of the atlas with C2-3 fusion and also more extensive fusions of the cervical vertebrae have already been identified as radiological patterns of the malformation. [38,59] Although there is some data on the causes of the abnormality, [6,20,49] in our report we endeavor to integrate, for the first time, the putative role of recently described genetic factors, known to be associated with vertebral anomalies in transgenic and mutant mice, with the development of the clinical dysmorphology just described (Table 2).…”

Anomaly of cervical vertebrae found on orthodontic examination: 8-year-old boy with cleft lip and palate diagnosed with Klippel-Feil syndrome

“…Patients with mild cases may not show any severe clinical symptoms at presentation but may develop neurological symptoms secondary to degenerative disc disease of the adjacent mobile segments, spinal instability from hypermobility or from trauma, or spinal stenosis in later decades of life. [13][14][15] The age at which neurological symptoms appear depends on the level of fusion of the cervical vertebrae. 6 Fusion of the first and the second cervical vertebrae (C1 and C2) tends to produce symptoms in the first decade of life, while fusion of the second and third cervical vertebrae (C2 and C3) is associated with neurological symptoms in the third decade.…”