Klippel-Feil Syndrome

Abstract

Klippel-Feil syndrome (KFS) is a rare multisystem constellation of findings with congenital cervical fusion as the hallmark. The etiology is not fully understood.» Recent studies have indicated that KFS is more prevalent than previously described.» Hypermobility in the nonfused segments may lead to adjacent segment disease and potential disc herniation and myelopathy after minor trauma.» Most patients with KFS are asymptomatic and can be managed nonoperatively. Surgical treatment is reserved for patients presenting with pain refractory to medical management, instability, myelopathy or radiculopathy, or severe adjacent segment disease.» Patients with craniocervical abnormalities and upper cervical instability should avoid contact sports as they are at increased risk for spinal cord injury after minor trauma.

Transient binocular vision loss and pain insensitivity in Klippel–Feil syndrome: a case report

“…KFS is a rare congenital abnormality characterized by fusion of at least one pair of adjacent cervical vertebrae, often resulting in a shortened neck, lower hairline, and limited neck mobility [ 7 ]. Our patient had all the three features and had evidence of Sprengel’s deformity [ 6 ]. Samartzis et al classified KFS into three different types (types I–III) on the basis of the extent of cervical fusion; this classification system is widely used to study the prognosis of such patients [ 6 , 8 ].…”

“…Our patient had all the three features and had evidence of Sprengel’s deformity [ 6 ]. Samartzis et al classified KFS into three different types (types I–III) on the basis of the extent of cervical fusion; this classification system is widely used to study the prognosis of such patients [ 6 , 8 ]. Type I involves single-level congenital fusion of cervical segment; type II comprises multiple, noncontiguous congenitally fused segments; and type III includes multiple, contiguous congenitally fused cervical segments [ 8 ].…”

“…On the basis of this criterion, our patient was classified as type III patient with KFS. The clinical presentation of KFS is highly heterogenous and can range from asymptomatic to severe, the latter being associated with a number of neurological symptoms [ 6 ]. Neurological anomalies associated with KFS include hearing loss, thinning of the corpus callosum, atlanto-occipital subluxation, syringomyelia, hydrocephalus, split cervical spinal cord, meningomyelocele (MCC), and pyramidal tract decussation failure [ 9 , 10 ].…”

“…Klippel–Feil syndrome (KFS), first described by Maurice Klippel and Andre Feil in 1912, is a rare congenital bone disorder distinguished by abnormal fusion of two or more cervical spine vertebrae [ 4 , 5 ]. Patients with KFS show significant clinical heterogeneity that ranges from skeletal abnormalities, visual and hearing impairment, orofacial anomalies, or visceral anomalies including cardiac, kidney, genitourinary, and neurologic [ 6 ]. Herein, we report a case report of a patient with KFS who was affected by TBVL and generalized insensitivity to pain stimuli, which we believe has never been reported for this rare syndrome.…”

Clinical and Surgical Characteristics of Patients with Atlantoaxial Dislocation in the Setting of Sandwich Fusion

“…R ecently, Hachem et al found that Chiari malformation represented the third most common phenotype in patients with KFS (and was particularly common in those cases in which the upper cervical spine was involved) undergoing a surgical procedure, as shown by principal component analysis 13 . In a review by Jae-Min Park et al on patients with KFS, those with craniocervical abnormalities were considered to be at increased risk for spinal cord injury 14 . Sakamoto et al reported on a patient with sandwich fusion and AAD, a retro-odontoid pseudotumor, and intramedullary hyperintensity 15 .…”