Klippel-Feil Syndrome Patients Research Articles

The Assessment of Airway Compression Due to Cervical Fusion in Klippel-Feil Syndrome Patients: A Report of Two Cases.

In general anesthesia for Klippel-Feil syndrome (KFS) patients, there is a potential risk of difficult intubation. However, airway assessment to predict difficult intubation for KFS patients is not known. In Patient 1, cervical spine computed tomography (CT) revealed airway compression due to cervical fusion. For airway assessment, bronchofiberscopy, three-dimensional (3-D) CT, and virtual bronchoscopic image (VBI) construction were performed. Based on these images, fiberoptic nasotracheal awake intubation was performed. In Patient 2, magnetic resonance imaging and bronchofiberscopy showed no airway compression due to cervical fusion; therefore, tracheal intubation was performed using a video laryngoscope after anesthetic administration. Airway compression due to cervical fusion is considered one of the risk factors for difficult intubation in KFS patients.

The multisystem deformities features of Klippel-Feil syndrome patients combined with congenital scoliosis

Objective: To summarize the characteristics of multisystem deformities in patients with Klippel-Feil syndrome (KFS) combined with congenital scoliosis (CS). Methods: Within the framework of the "Deciphering Disorders Involving Scoliosis and Comorbidities (DISCO)" research collaboration, a retrospective analysis was conducted on patients diagnosed with KFS and CS at Peking Union Medical College Hospital between April 2005 and August 2022. Patient data, including imaging examinations and medical records, were collected to summarize the spinal and associated deformities. Results: A total of 82 KFS patients with concurrent CS were included, comprising 42 males and 40 females. The average age was (12.8±8.9) years. Among the KFS patients, there were 31 cases of Type Ⅰ, 12 cases of Type Ⅱ, and 39 cases of Type Ⅲ. The most common location for the major curve of scoliosis was the mid-thoracic segment (42 cases, 51.2%). Hemivertebrae deformities were most frequently observed in the upper thoracic segment (31 cases, 60.8%). There were no statistically significant differences in age, gender, major curve Cobb angle, or region of hemivertebrae occurrence among the different types of KFS (all P>0.05). Apart from spinal vertebral deformities, intraspinal deformities had the highest comorbidity rate (33 cases, 40.2%). The subjects were divided into two groups based on the presence or absence of intraspinal deformity (absence as group G0, presence as group G1), there was a statistically significant difference in the main Cobb angle [M(Q1, Q3)] between the two groups, which was 45.0° (27.5°, 62.0°) and 60.0° (37.5°, 83.5°), respectively (P=0.044). Additionally, a portion of the patients had concurrent cardiovascular system abnormalities (13 cases, 15.9%), craniofacial-ocular-auricular abnormalities (8 cases, 9.8%), genitourinary system abnormalities (7 cases, 8.5%), and gastrointestinal abnormalities (2 cases, 2.4%). Conclusions: Patients with KFS combined with CS commonly present with a major curve of spinal deformity in the mid-thoracic segment and often have comorbidities involving multiple systems. When combined with intraspinal anomalies, the major curve exhibits a greater degree of curvature.

Transmandibular Cervical Corpectomy for Persistent Spinal Cord Compression in a Patient With Klippel-Feil Syndrome: A Technical Note and Systematic Review.

Few studies have described a transmandibular approach for decompression in a patient with Klippel-Feil syndrome (KFS) for cervical myelopathy. To describe the transmandibular approach in a KFS patient with cervical myelopathy and to perform a systematic review according to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses. A systematic review was performed using Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines. Embase and PubMed databases were searched from January 2002 to November 2022 for articles examining patients with KFS undergoing cervical decompression and/or fusion for cervical myelopathy and/or radiculopathy were included. Articles describing compression due to nonbony causes, lumbar/sacral surgery, nonhuman studies, or symptoms only from basilar invagination/impression were excluded. Data collected were sex, median age, Samartzis type, surgical approach, and postoperative complications. A total of 27 studies were included, with 80 total patients. Thirty-three patients were female, and the median age ranged from 9 to 75 years. Forty-nine patients, 16 patients, and 13 patients were classified as Samartzis Types I, II, and III, respectively. Forty-five patients, 21 patients, and 6 patients underwent an anterior, posterior, and combined approach, respectively. Five postoperative complications were reported. One article reported a transmandibular approach for access to the cervical spine. Patients with KFS are at risk of developing cervical myelopathy. Although KFS manifests heterogeneously and may be treated through a variety of approaches, some manifestations of KFS may preclude traditional approaches for decompression. Surgical exposure through the anterior mandible may prove an option for cervical decompression in patients with KFS.

Hypoglossal nerve palsy following spine surgery in Klippel-Feil syndrome patient

Panzone, John BS; Lavelle, William MD, MBA; Tallarico, Richard A. MD Author Information

Cadaveric kidney transplantation in an ESRD patient with Klippel–Feil syndrome—A case report

Klippel-Feil syndrome (KFS) is a congenital skeletal disorder with classic clinical triad consisting of short neck, low hairline, and limitation of neck movement. In addition to skeletal deformities, diagnosed cases of KFS may have other anomalies such as cardiac, neurologic, and genitourinary disorder. We report a case of KFS with associated anomalies such as short neck, limitation of neck movement, scoliosis of cervical spine, and dextrocardia who received successful cadaveric kidney transplantation. This article aims to present kidney transplantation as option of treatment in KFS patient with ESRD and emphasize on the difficulty in airway management of this patient.

Prevalence and Risk Factors of Surgical Treatment for Klippel-Feil Syndrome.

BackgroundRecently, there have been some reports on surgical treatment for Klippel–Feil syndrome, but the prevalence and risk factors of surgery have not been well evaluated. This study sought to find the prevalence and potential risk factors of surgical treatment.MethodsA retrospective radiographic review of 718 Klippel–Feil syndrome patients seen at Peking University Third Hospital from January 2010 to October 2017 was performed. Parameters included age, gender, deformity, cervical instability, Samartzis classification, and surgical treatment. Based on the surgical treatment they received, patients were divided into a surgery group and a non-surgery group. Prevalence and possible risk factors of surgical treatment were assessed.ResultsA total of 718 Klippel–Feil syndrome patients, including 327 men and 391 women, with an average age of 46.8 years were enrolled. According to the Samartzis classification scheme, 621 cases (86.5%) were classified as type I, 48 cases (6.7%) were classified as type II, and 49 cases (6.8%) were classified as type III, respectively. The most commonly fused segments were C2–3 (54.9%) and C5–6 (9.3%). Of all 718 patients, 133 (18.5%) patients underwent surgical treatment, mainly via the posterior approach (69.9%). The clinical factors included age, gender, deformity, instability, and Samartzis classification. Men were more likely to require surgical treatment (p < 0.001). Patients with instability (p < 0.001) or patients with deformity (p = 0.004) were also more likely to undergo surgery. All three of these variables were included in the binary regression analysis. Finally, gender (p < 0.001) and unstable joints (p < 0.001) were identified to be independently associated with surgical treatment. Gender was the most important risk factor with men being 2.39 times more likely to have surgical treatment, while patients with instability were 2.31 times more likely to receive surgery.ConclusionThe prevalence of patients with Klippel–Feil syndrome requiring surgery was 18.5%, with the majority undergoing posterior cervical surgery. Gender and instability were indemnified as independent risk factors leading to surgical treatment.

The predictive ability of occipital to C3 angle for dysphagia after occipitocervical fusion in patients with combined C2\u20133 Klippel-Feil syndrome

BackgroundImproper occipitocervical alignment after occipitocervical fusion (OCF) may lead to devastating complications, such as dysphagia and/or dyspnea. The occipital to C2 angle (O-C2a), occipital and external acoustic meatus to axis angle (O-EAa) have been used to evaluate occipitospinal alignment. However, it may be difficult to identify the inferior endplate of the C2 vertebra in patients with C2–3 Klippel-Feil syndrome (KFS). The purpose of this study aimed to compare four different parameters for predicting dysphagia after OCF in patients with C2–3 KFS.MethodsThere were 40 patients with C2–3 KFS undergoing OCF between 2010 and 2019. Radiographs of these patients were collected to measure the occipital to C3 angle (O-C3a), O-C2a, occipito-odontoid angle (O-Da), occipital to axial angle (Oc-Axa), and narrowest oropharyngeal airway space (nPAS). The presence of dysphagia was defined as the patient complaining of difficulty or excess endeavor to swallow. Patients were divided into two groups according to whether they had postoperative dysphagia. We evaluated the relationship between each of the angle parameters and nPAS and analyzed their influence to the postoperative dysphagia.ResultsThe incidence of dysphagia after OCF was 25% in patients with C2–3 KFS. The Oc-Axa, and nPAS were smaller in the dysphagia group compared to non-dysphagia group at the final follow-up (p < 0.05). Receiver-operating characteristic (ROC) curves showed that dO-C3a had the highest accuracy as a predictor of the dysphagia with an area under the curve (AUC) of 0.868. The differences in O-C3a, O-C2a, O-Da, and Oc-Axa were all linearly correlated with nPAS scores preoperatively and at the final follow-up within C2–3 KFS patients, while there was a higher R2 value between the dO-C3a and dnPAS. Multiple linear regression analysis showed that the difference of O-C3a was the only significant predictor for dnPAS (β = 0.670, p < 0.001).ConclusionsThe change of O-C3a (dO-C3a) is the most reliable indicator for evaluating occipitocervical alignment and predicting postoperative dysphagia in C2–3 KFS patients. Moreover, dO-C3a should be more than − 2° during OCF to reduce the occurrence of postoperative dysphagia.

English

Posterior high cervical spinal cord cleft has been rarely reported in association with Klippel - Feil syndrome (KFS). Its presence may have prognostic value in long term neurological outcome. If there is segmentation anomaly of two or more vertebrae during embryonic life mainly involving the cervical vertebrae, it can result in Klippel - Feil syndrome. It is a rare anomaly and is present with the incidence of 1 : 42000 births.1 During 2nd to 8th week of embryonic life, the segmentation of the mesodermal somites of the spine in the cervical region fails and leads to cervical spine synostosis which is also known as KFS. Although most commonly the KFS patients present with the symptoms of short length of the neck, hairline posteriorly is low and the mobility in the upper part of the spine is restricted. It is also sometimes associated with other congenital anomalies like Sprengel’s deformity, hemivertebra, basilar impression, cleft palate, and many more rare anomalies.2 Most commonly the patients having this syndrome show restriction of the motion in the neck region.3

Clınıcal Approach To Patıents Wıth Klıppel-Feıl Syndrome

Objective: Klippel-Feil Syndrome (KFS) is is a congenital syndrome that has a short neck, fusion in at least 2 cervical vertebrae, and a decrease in neck movements in the classic triad. KFS patients may have a higher risk for mechanical spinal cord injury because of unstable cervical segments. Patients should be examined extensively, since many anomalies may accompany KFS. In the current article, we aimed to present our cases with KFS with clinical, radiological, and genetic results. Materials and Methods: In this study, a total of 317 cervical MRIs required by Pediatric Surgery between 2012-2019 years with various indications and 90 cervical CT reports in 2019 were evaluated. Information was collected retrospectively with a file scan. Clinical, radiological, biochemical and genetic evaluation of KFS cases were performed. Results: All of our patients with KFS had Sprengel deformity, cervical fusion anomaly, restricted neck movements, short neck, low hairline, and growth retardation. Growth Differentiating Factor 6 (GDF6) gene was negative in all our patients. Conclusion: The necessity of treatment depends more on the pathologies that may be caused by deformity and other systemic findings. The patient should be cautious and avoid heavy exercise because of neurological deficits seen after minor trauma in patients with KFS.

Comparative proteomics analysis for identifying the lipid metabolism related pathways in patients with Klippel-Feil syndrome.

BackgroundKlippel-Feil syndrome (KFS) represents the rare and complex deformity characterized by congenital defects in the formation or segmentation of the cervical vertebrae. There is a wide gap in understanding the detailed mechanisms of KFS because of its rarity, heterogeneity, small pedigrees, and the broad spectrum of anomalies.MethodsWe recruited eight patients of Chinese Han ethnicity with KFS, five patients with congenital scoliosis (CS) who presented with congenital fusion of the thoracic or lumbar spine and without known syndrome or cervical deformity, and seven healthy controls. Proteomic analysis by data-independent acquisition (DIA) was performed to identify the differential proteome among the three matched groups and the data were analyzed by bioinformatics tools including Gene Ontology (GO) categories and Ingenuity Pathway Analysis (IPA) database, to explore differentially abundant proteins (DAPs) and canonical pathways involved in the pathogenesis of KFS.ResultsA total of 49 DAPs were detected between KFS patients and the controls, and moreover, 192 DAPs were identified between patients with KFS and patients with CS. Fifteen DAPs that were common in both comparisons were considered as candidate biomarkers for KFS, including membrane primary amine oxidase, noelin, galectin-3-binding protein, cadherin-5, glyceraldehyde-3-phosphate dehydrogenase, peroxiredoxin-1, CD109 antigen, and eight immunoglobulins. Furthermore, the same significant canonical pathways of LXR/RXR activation and FXR/RXR activation were observed in both comparisons. Seven of DAPs were apolipoproteins related to these pathways that are involved in lipid metabolism.ConclusionsThis study provides the first proteomic profile for understanding the pathogenesis and identifying predictive biomarkers of KFS. We detected 15 DAPs that were common in both comparisons as candidate predictive biomarkers of KFS. The lipid metabolism-related canonical pathways of LXR/RXR and FXR/RXR activation together with seven differentially abundant apolipoproteins may play significant roles in the etiology of KFS and provide possible pathogenesis correlation between KFS and CS.

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.

Demographics, presentation and symptoms of patients with Klippel-Feil syndrome: analysis of a global patient-reported registry

Klippel-Feil syndrome (KFS) occurs due to failure of vertebral segmentation during development. Minimal research has been done to understand the prevalence of associated symptoms. Here, we report one of the largest collections of KFS patient data. Data were obtained from the CoRDS registry. Participants with cervical fusions were categorized into Type I, II, or III based on the Samartzis criteria. Symptoms and comorbidities were assessed against type and location of fusion. Seventy-five patients (60F/14M/1 unknown) were identified and classified as: Type I, n = 21(28%); Type II, n = 15(20%); Type III, n = 39(52%). Cervical fusion by level were: OC-C1, n = 17(22.7%), C1-C2, n = 24(32%); C2-C3, n = 42(56%); C3-C4, n = 30(40%); C4-C5, n = 42(56%); C5-C6, n = 32(42.7%); C6-C7, n = 25(33.3%); C7-T1, n = 13(17.3%). 94.6% of patients reported current symptoms and the average age when symptoms began and worsened were 17.5 (± 13.4) and 27.6 (± 15.3), respectively. Patients reported to have a high number of comorbidities including spinal, neurological and others, a high frequency of general symptoms (e.g., fatigue, dizziness) and chronic symptoms (limited range of neck motion [LROM], neck/spine muscles soreness). Sprengel deformity was reported in 26.7%. Most patients reported having received medication and invasive/non-invasive procedures. Multilevel fusions (Samartzis II/III) were significantly associated with dizziness (p = 0.040), the presence of LROM (p = 0.022), and Sprengel deformity (p = 0.036). KFS is associated with a number of musculoskeletal and neurological symptoms. Fusions are more prevalent toward the center of the cervical region, and less common at the occipital/thoracic junction. Associated comorbidities including Sprengel deformity may be more common in KFS patients with multilevel cervical fusions. These slides can be retrieved under Electronic Supplementary Material.

Klippel-Feil: A constellation of diagnoses, a contemporary presentation, and recent national trends.

Background:Klippel–Feil syndrome (KFS) includes craniocervical anomalies, low posterior hairline, and brevicollis, with limited cervical range of motion; however, there remains no consensus on inheritance pattern. This study defines incidence, characterizes concurrent diagnoses, and examines trends in the presentation and management of KFS.Methods:This was a retrospective review of the Kid's Inpatient Database (KID) for KFSpatients aged 0–20 years from 2003 to 2012. Incidence was established using KID-supplied year and hospital-trend weights. Demographics and secondary diagnoses associated with KFS were evaluated. Comorbidities, anomalies, and procedure type trends from 2003 to 2012 were assessed for likelihood to increase among the years studied using ANOVA tests.Results:Eight hundred and fifty-eight KFS diagnoses (age: 9.49 years; 51.1% females) and 475 patients with congenital fusion (CF) (age: 8.33 years; 50.3% females) were analyzed. We identified an incidence rate of 1/21,587 discharges. Only 6.36% of KFS patients were diagnosed with Sprengel's deformity; 1.44% with congenital fusion. About 19.1% of KFS patients presented with another spinal abnormality and 34.0% presented with another neuromuscular anomaly. About 36.51% of KFS patients were diagnosed with a nonspinal or nonmusculoskeletal anomaly, with the most prevalent anomalies being of cardiac origin (12.95%). About 7.34% of KFS patients underwent anterior fusions, whereas 6.64% of KFS patients underwent posterior fusions. The average number of levels operated on was 4.99 with 8.28% receiving decompressions. Interbody devices were used in 2.45% of cases. The rate of fusions with <3 levels (7.46%) was comparable to that of 3 levels or greater (7.81%).Conclusions:KFS patients were more likely to have other spinal abnormalities (19.1%) and nonnervous system abnormalities (13.63%). Compared to congenital fusions, KFS patients were more likely to have congenital abnormalities such as Sprengel's deformity. KFS patients are increasingly being treated with spinal fusion.Level of Evidence:III

Otolaryngologic Manifestations of Klippel-Feil Syndrome in Children

Children with Klippel-Feil syndrome (KFS), characterized principally by abnormal fusion of 2 or more cervical vertebrae, may have many additional congenital anomalies. The overall prevalence of otolaryngologic manifestations among patients with KFS has not been previously characterized. To define the otolaryngologic diagnoses made and procedures performed in 95 patients with KFS, which, to our knowledge, is the largest series of this challenging patient population published to date. For this retrospective review, all patients with KFS who underwent otolaryngology consultation at our institution over a 26-year period (January 1989 to December 2015) were included. Patients were identified using International Classification of Diseases, Ninth Revision (ICD-9) codes and were confirmed through individual medical record review. Relevant otolaryngologic diagnoses and procedures were extracted using ICD-9 and Current Procedural Terminology codes, respectively. Selected demographics included age, sex, number of clinic visits, and number of procedures. The primary outcomes were the otolaryngologic diagnoses and procedures associated with the KFS patient population; the secondary outcome was Cormack-Lehane classification documented during airway procedures. Overall, 95 patients with KFS were included in this study (55 males [58%] and 40 females [42%]); mean (range) age at time of presentation to the otorhinolaryngology clinic was 5.8 (birth-23.0) years. Each patient with KFS averaged 8 visits to the otorhinolaryngology office and 5 otolaryngologic diagnoses. The most common diagnosis was conductive hearing loss (n = 49 [52%]), followed by sensorineural hearing loss (n = 38 [40%]), and dysphagia (n = 37 [39%]). Sixty-two (65%) patients underwent otolaryngologic procedures, with 44 (46%) undergoing multiple procedures. The most common procedure was tympanostomy tube placement (n = 36 [38%]), followed by office flexible endoscopy (n = 23 [24%]). Twelve of the 20 patients who underwent direct laryngoscopy had documented Cormack-Lehane classification; 5 of 12 patients (42%) had a compromised view (grade 2, 3, or 4) of the larynx. Three patients required tracheotomies at this institution for airway stabilization purposes; each had severe upper airway obstruction leading to respiratory failure. Patients with KFS require consultation for a variety of otolaryngologic conditions. Among these, hearing loss is the most common, but airway issues related to cervical spine fusion are the most challenging. Formulating an appropriate care plan in advance is paramount, even for routine otolaryngology procedures.

Adjacent segment level disease in Klippel-Feil syndrome patients with congenital cervical fusion in the setting of anterolisthesis: Should management be altered in the presence of anterolisthesis?

ObjectiveThe goal of our study was to determine the incidence of adjacent segment level pathology preoperatively in patients with Klippel-Feil syndrome (KFS) and compare it to the incidence in patients who have undergone anterior cervical discectomy and fusion. Secondarily, we hypothesized that patients with KFS and anterolisthesis would be more likely to develop symptomatic and radiological adjacent segment level disease. MethodsTwenty patients with Klippel-Feil syndrome from a single institution were followed for 33 months; range 4–108 months. Serial imaging and follow-up (serial visits) were used to determine adjacent segment level disease. Patients were separated in two categories: those with anterolisthesis adjacent to their congenitally fused segments and those without. ResultsTwenty patients with an average age of 9.5 yrs were identified. The average follow-up period was 33 months; range 4–108 months. Nineteen patients received a diagnosis of KFS during incidental imaging. One patient was diagnosed as part of a workup for myelopathy caused by a disc herniation adjacent to two fused segments. Eight patients had no listhesis in cervical levels adjacent to fused vertebral segments while 12 had listhesis. The two most common levels of listhesis were at C3–C4 and C4–C5 (five patients each). Five patients in the listhesis group had an increase in listhesis through the follow-up period. There were no differences in the development of symptoms between patients who had and did not have listhesis. All non-operative patients were asymptomatic at last follow-up. ConclusionOur follow-up was limited, but this study does not support the assumption that a congenitally fused segment predisposes a patient to a rate of adjacent segment level disease similar to patient who has undergone an anterior cervical discectomy and fusion. We found no increased risk of symptomatic adjacent segment level disease in KFS patients who had anterolisthesis adjacent to a congenitally fused segment.

"Clinical triad" findings in pediatric Klippel-Feil patients.

BackgroundIt has been propagated that patients with Klippel-Feil syndrome (KFS) exhibit “clinical triad” findings (CTFs), known as a short neck, low posterior hairline, and limited cervical range of motion (ROM). However, the literature has noted that up to 50 % of KFS cases may not present with such findings and the reasoning behind such assertions remains speculative. As such, the following study addressed the association between CTFs to that of congenitally-fused cervical segments and other risk factors in KFS patients.MethodsWe conducted a retrospective clinical study based on prospectively collected radiographic data. Thirty-one KFS patients at a single institution were assessed. Radiographs were used to evaluate the location and extent of congenitally-fused segments (spanning the occiput (O) to the first thoracic vertebra (T1)), as well as examining coronal and sagittal cervical alignments based on the Samartzis et al. KFS classification. Clinical records were evaluated to account for the initial clinical assessment of CTFs. Patients were further stratified into two groups: Group 1 included patients noted to have any CTFs, while Group 2 included patients who had no such findings.ResultsThere were 12 males and 19 females (mean age at initial consultation: 9.7 years). No evidence of any of the CTFs was shown in 35.5 % of patients, whereas 38.7, 16.2 and 9.7 % were determined to have one, two or all three criteria, respectively. Limited cervical ROM was the most common finding (64.5 % of patients). In Group 1, 25 % had a short neck, 30 % a low posterior hairline, and 100 % exhibited limited cervical ROM. Group 1 had a mean of 3.9 fused cervical segments, whereas Group 2 had a mean of 2.5 fused cervical segments (p = 0.028). Age, sex-type, occipitalization and alignment parameters did not significantly differ to Group-type (p > 0.05). In Group 1, based on the Samartzis et al. Types I, II, and III, 16.7, 73.3, and 80.0 % of the patients, respectively, had at least one CTF.ConclusionsComplete CTFs were not highly associated during the clinical assessment of young KFS patients. However, KFS patients with extensive, congenitally-fused segments (i.e. Samartzis et al. Type III) were significantly more likely to exhibit one of the components of the CTF, which was predominantly a limited cervical ROM. Clinicians managing young pediatric patients should not rely on the full spectrum of CTFs and should maintain a high-index of suspicion for KFS, in particular in individuals that exhibit associated spinal findings, such as congenital scoliosis.

Klippel-Feil 증후군 환자의 경추 도수치료 후 발생한 부작용 치험1례

The Klippel-Feil Syndrome (KFS) is characterized by congenital fusion of two or more vertebrae with hypermobile normal segment. According to this, a patient with KFS can be at risk of severe neurological symptoms after manipulation treatment. We had a KFS patient who suffered from neck pain and limited range of motion at cervical after manipulation treatment. The patient, 49-year-old woman was diagnosed as KFS through Cervical X-ray and MRI. The patient was treated by acupuncture therapy and SCENAR therapy. We measured neck pain by visual analog scale (VAS) and neck disability index (NDI) and checked range of motion at cervical before and after the treatments. After 8 times treatments, the patient's pain decreased and the range of motion increased. From this case, we can recognize the risk of Chuna manipulation treatment for KFS patient. So, we suggest that radiological examination is needed before cervical Chuna manipulation treatment to avoid adverse reactions.

Two Cases of Klippel-Feil Syndrome with Cervical Myelopathy Successfully Treated by Simple Decompression without Fixation.

Klippel-Feil syndrome (KFS) is a congenital developmental disorder of cervical spine, showing short neck with restricted neck motion, low hairline, and high thoracic cage due to multilevel cervical fusion. Radiculopathy or myelopathy can be accompanied. There were 2 patients who were diagnosed as KFS with exhibited radiological and physical characteristics. Both patients had stenosis and cord compression at C1 level due to anterior displacement of C1 posterior arch secondary to kyphotic deformity of upper cervical spine, which has been usually indicative to craniocervical fixation. One patient was referred due to quadriparesis detected after surgery for aortic arch aneurysmal dilatation. The other patient was referred to us due to paraparesis and radiating pain in all extremities developed during gynecological examinations. Decompressive C1 laminectomy was done for one patient and additional suboccipital craniectomy for the other. No craniocervical fixation was done because there was no spinal instability. Motor power improved immediately after the operation in both patients. Motor functions and spinal stability were well preserved in both patients for 2 years. In KFS patients with myelopathy at the C1 level without C1-2 instability, a favorable outcome could be achieved by a simple decompression without spinal fixation.

Congenital variations of the upper cervical spine and their importance in preoperative diagnosis. A case report and a review of the literature

Several variations of the bony and vascular anatomy around the first and second cervical vertebrae have been reported. Failure to recognise these variations can complicate operations on the upper cervical spine. We present a patient with recent onset of cervical myelopathy due to stenosis at the C3-4 level. Preoperative evaluation identified Klippel-Feil syndrome with cervical fusion of C2-3, aplasia of posterior arch of C1, anomalous vertebral artery course and a "ponticulus posticus" of C2. The combination of these variations in a Klippel-Feil syndrome patient has never been reported. Thus, we recommend a thorough preoperative imaging evaluation, with CT scan and CT angiography or DSA, in addition to plain radiographs. This evaluation is imperative, before a cervical spine surgery, allowing a better understanding of the anatomy, in order to minimise the risks of misplacement of cervical instrumentation especially in such patients.

INCIDENTAL KLIPPEL: FEIL SYNDROME TYPE III PRESENTING WITH ASYMMETRIC QUADRIPARESIS

BackgroundWe would like to present a 30-year-old patient with Klippel—Feil syndrome (KFS) type III whose initial presentation was with spastic quadriparesis. Such cases are rarely reported as first presentation in...