Abstract
Klippel-Feil syndrome is a bone disorder characterized by the abnormal fusion of two or more cervical vertebrae, which is present from birth. It is an autosomal dominant congenital defect. It is characterized by the classical triad-short webbed neck, low posterior hairline, restricted head and neck movements and commonly associated with a tuft of hair at lumbosacral region and torticollis (abnormal neck position). Many aspects of this syndrome are surfacing and is not clear whether it is a separate entity or if it is a part of congenital spinal deformities. Only if the link is found between the genetic etiology and phenotypical pathoanatomy, the heterogeneity of the syndrome can be understood. This disease is linked to so many other syndromes and diseases, and the clinician must be well aware of the variations, and common associations in order to avoid a misdiagnosis.
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