Congenital Fusion Of Cervical Vertebrae Research Articles

Imaging characteristics associated with surgery in Chiari malformation type I.

In Chiari malformation type I (CM-I), a variety of imaging findings have been purported to be important; however, results have been inconclusive, inconsistent, or not replicated in independent studies. The purpose of this study was to report imaging characteristics for a large cohort of patients with CM-I and identify the imaging findings associated with surgical decompression. Patients were identified using ICD-9 codes for CM-I for the period from 1996 to 2017. After review of the medical records, patients were excluded if they 1) did not have a diagnosis of CM-I, 2) were not evaluated by a neurosurgeon, or 3) did not have available preoperative MRI. Retrospective chart review was performed to collect demographic and clinical data. Imaging parameters were measured according to the Chiari I Malformation Common Data Elements. A total of 731 patients were included for analysis, having a mean follow-up duration of 25.5 months. The mean age at presentation was 8.5 years. The mean tonsil position was 11.4 mm below the foramen magnum, and 62.8% of patients had a pegged tonsil shape. Two hundred patients (27.4%) underwent surgery for life-dominating tussive headache, lower cranial nerve dysfunction, syrinx, and/or brainstem dysfunction. Surgical treatment was associated with a syrinx (OR 20.4, 95% CI 12.3-33.3, p < 0.0001), CM-1.5 (OR 1.797, 95% CI 1.08-2.98, p = 0.023), lower tonsil position (OR 1.130, 95% CI 1.08-1.18, p < 0.0001), and congenital fusion of cervical vertebrae (OR 5.473, 95% CI 1.08-27.8, p = 0.040). Among patients with benign CM-I, tonsil position was statistically significantly associated with future surgery. Comprehensive imaging characteristics for a large cohort of patients with CM-I are reported. Analysis showed that a lower tonsillar position, a syrinx, and CM-1.5 were associated with undergoing posterior fossa decompression. This study demonstrates the importance of considering imaging findings in the context of patient symptomatology.

Klippel Feil Syndrome: Clinical Phenotypes Associated With Surgical Treatment.

Retrospective study. To define distinct Klippel-Feil syndrome (KFS) patient phenotypes that are associated with the need for surgical intervention. KFS is characterized by the congenital fusion of cervical vertebrae; however, patients often present with a variety of other spinal and extraspinal anomalies suggesting this syndrome encompasses a heterogeneous patient population. Moreover, it remains unclear how the abnormalities seen in KFS correlate to neurological outcomes and the need for surgical intervention. Principal component (PC) analysis was performed on 132 KFS patients treated at a large pediatric hospital between 1981 and 2018. Thirty-five variables pertaining to patient/disease-related factors were examined. Significant PCs were included as independent variables in multivariable logistic regression models designed to test associations with three primary outcomes: cervical spine surgery, thoracolumbar/sacral spine surgery, and cranial surgery. Fourteen significant PCs accounting for 70% of the variance were identified. Five components, representing four distinct phenotypes, were significantly associated with surgical intervention. The first group consisted of predominantly subaxial cervical spine fusions, thoracic spine abnormalities and was associated with thoracolumbar/sacral spine surgery. The second group was largely represented by axial cervical spine anomalies and had high association with cervical subluxation and cervical spine surgery. A third group, heavily represented by Chiari malformation, was associated with cranial surgery. Lastly, a fourth group was defined by thoracic vertebral anomalies and associations with sacral agenesis and scoliosis. This phenotype was associated with thoracolumbar/sacral spine surgery. This is the first data-driven analysis designed to relate KFS patient phenotypes to surgical intervention and provides important insight that may inform targeted follow-up regimens and surgical decision-making. 3.

Step toward diagnosing a rare condition: Klippel–Feil syndrome

Klippel–Feil syndrome (KFS) was first delineated by Maurice Klippel and Andre Feil in 1912 in a patient with congenital fusion of cervical vertebrae. The traditional clinical triad of KF disorder is low posterior hairline, short neck, and restriction of head-and-neck range of motion (ROM). In general, the symptoms and radiographic changes go hand in hand if there is an occurrence of KF disorder. However, the present case has pain in neck and stiffness without any neurological signs correlating with the positive radiological findings of lower cervical spine fusion and dysplasia. A young 35 year old female presented to the outpatient department of physiotherapy with complaints of pain in the neck and morning stiffness. On examination, a clinical triad, i.e., lower posterior hairline, short neck, and restriction of head and neck range of motion were noted. Single-level cervical fusion was reported on radiological investigation. Axial symptoms such as neck pain, neck stiffness, and neck ROM restriction are the predominant symptoms of KFS. The present case fitted into KFS Type II patients' category where patients exhibit a solitary combined cervical portion.

Cervical neurenteric cyst and Klippel-Feil syndrome: An abrupt onset of myelopathic signs in a young patient

Abstract Neurenteric cysts (NECs), also called enterogenous cysts or enterogenic cysts, are congenital malformative anomalies of endodermal origin that manifest with a variety of disorders, including spine anomalies. Neurenteric cysts are uncommon developmental disorders reported in 0.7%–1.3% of all spinal tumors. Klippel-Feil syndrome (KFS) defines a malformative spine disorder presenting with congenital fusion of cervical vertebrae and/or other parts of the spine. In patients with KFS, NECs are rarely reported; they may be silent for long periods of time, showing a slow progressive course or manifesting with an acute, severe neurological presentation or with fluctuating myelopathic symptoms. We report a young patient affected by KFS associated with a NEC which, in a short period of time, progressively caused myelopathic symptomatology. Surgical intervention resulted in resolution of the neurological signs.

Congenital Cervical Fusion as a Risk Factor for Development of Degenerative Cervical Myelopathy.

Congenital fusion of cervical vertebrae, including Klippel-Feil syndrome (KFS), is a suspected risk factor for development of degenerative cervical myelopathy (DCM). We aimed to establish prevalence and degenerative patterns of congenital cervical fusion (CCF) among a global cohort of patients with DCM. Data from 3 prospective DCM studies were merged, including clinical data for 813 patients and imaging for 592 patients. CCF was diagnosed by presence of fused cervical vertebrae without signs of degenerative fusion. Awasp-waist sign was used to define a KFS subgroup. Characteristics of patients with CCF and the KFS subgroup were compared with the remainder of patients with DCM. Twenty-three patients with CCF (14 KFS) were identified, indicating a prevalence of 3.9% (2.4% KFS). Patients with CCF were older (P= 0.02), had more operated levels (P= 0.01), had higher rates of ossified posterior longitudinal ligament (P= 0.02), and demonstrated worse degenerative changes at C3-4, including spinal cord compression (P= 0.002) and T2 weighted image T2WI signal hyperintensity (P= 0.04). Levels adjacent to fusions showed a trend toward increased spinal cord compression (P= 0.09), with fusions at C3-4 or above showing cord compression below in 9 of 10 patients, fusions at C5-6 or below having cord compression above in 8 of 8 patients, and fusions at C4-5 showed cord compression above and below in 2 of 2 patients. The prevalence of CCF and KFS is higher in DCM than for the general population, suggesting that these patients are predisposed to DCM development. Patients with CCF also have an altered pattern of degenerative changes, seemingly related to adjacent segment degeneration that preferentially affects midcervical levels.

Congenital fusion of cervical vertebrae: a review on embryological etiology

Congenital fusion of cervical vertebrae is a rare anomaly. In this condition, two fused vertebrae appear structurally and functionally as one. This anomaly may be symptomatic or asymptomatic. Myelopathy, limitation in neck movement, muscular atrophy and regional sensory loss are examples of probable morbidity associated with this anomaly. Combination of genetic and environmental factors are involved in pathogenesis of this anomaly. Malformation of notochord, poor performance of retinoids, decreased local blood supply of spine and alteration in genes expression, especially members of Hox and Pax family genes are some of the proposed reasons of congenital fusion of cervical vertebrae. Diagnosis of this congenital anomaly in childhood seems to have an important role in prevention of probable secondary disorders in adulthood. We offer to clinicians that after performing careful physical tests and noticing the presence of signs and symptoms that mentioned in this paper, if a patient suspected to have congenital fusion of cervical vertebrae, genetic tests ought to be performed.

Monsters and the case of L. Joseph: André Feil's thesis on the origin of the Klippel-Feil syndrome and a social transformation of medicine.

André Feil (1884-1955) was a French physician best recognized for his description, coauthored with Maurice Klippel, of patients with congenital fusion of cervical vertebrae, a condition currently known as Klippel-Feil syndrome. However, little is known about his background aside from the fact that he was a student of Klippel and a physician who took a keen interest in describing congenital anomalies. Despite the relative lack of information on Feil, his contributions to the fields of spinal disease and teratology extended far beyond science to play an integral role in changing the misguided perception shrouding patients with disfigurements, defects, deformities, and so-called monstrous births. In particular, Feil's 1919 medical school thesis on cervical abnormalities was a critical publication in defying long-held theory and opinion that human "monstrosities," anomalies, developmental abnormalities, and altered congenital physicality were a consequence of sinful behavior or a reversion to a primitive state. Indeed, his thesis on a spinal deformity centering on his patient, L. Joseph, was at the vanguard for a new view of a patient as nothing less than fully human, no matter his or her physicality or appearance.

Klippel-Feil Syndrome in a Cheerleader

INTRODUCTIONKlippel-Feil syndrome is a congenital fusion of cervical vertebrae, involving at least two segments, the entire cervical spine or a congenital block vertebra. The syndrome may also involve the cardiopulmonary, auditory, genitourinary, or other systems. The syndrome is often considered an

Syringomyelia, neuropathic pain and Caesarean section

Syringomyelia, neuropathic pain and Caesarean section