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.

Duplication of right vertebral artery in Klippel-Feil anomaly.

The duplicated origin of the vertebral artery (VA) is an uncommon anatomical variant, which is generally identified incidentally during angiography and can be misdiagnosed as dissection in the setting of posterior circulation stroke. Here, we describe a case of the right V1 VA duplication with embryological aspects in a patient with Klippel-Feil anomaly, which was diagnosed during preoperative evaluation. Surgeons must be aware to avoid vascular injury from a duplicated VA before head-neck and spinal surgery.

Posterior Occipitocervical Fixation and Intrathecal Baclofen Therapy for the Treatment of Basilar Invagination with Klippel-Feil Syndrome: A Case Report.

Klippel-Feil syndrome (KFS) is characterized by the congenital fusion of the cervical vertebrae and is sometimes accompanied by anomalies in the craniocervical junction. In basilar invagination (BI), which is a dislocation of the dens in an upper direction, compression of the brainstem and cervical cord results in neurological defects and surgery is required. A 16-year-old boy diagnosed with KFS and severe BI presented with spastic tetraplegia, opisthotonus and dyspnea. CT scans showed basilar impression, occipitalization of C1 and fusion of C2/C3. MRI showed ventral compression of the medullocervical junction. Posterior occipitocervical reduction and fusion along with decompression were performed. Paralysis gradually improved postoperatively over 3 weeks. However, severe spasticity and opisthotonus persisted and intrathecal baclofen (ITB) therapy was initiated. Following this, opisthotonus disappeared and spasticity of the extremities improved. Rehabilitation therapy continued by controlling the dose of ITB. Five years after the surgery, self-propelled wheelchair driving was achieved and activities of daily life improved. The treatment strategy for patients with BI and congenital anomalies remains controversial. Posterior reduction and internal fixation using instrumentation were effective techniques in this case. Spasticity control achieved through a combination of surgery and ITB treatment enabled the amelioration of therapeutic efficacy of rehabilitation and the improvement of ADL.

Neglected Sprengel's deformity in an 80-year-old female cadaver: a case report.

BACKGROUND: Sprengel's deformity is a congenital abnormality of the shoulder girdle. Because scapular retraction, such as the Green procedure, is usually performed during childhood to improve esthetics and shoulder function, Sprengel's deformity is rarely found in older patients. CASE PRESENTATION: We presented a unique case of a Japanese female cadaver with Sprengel's deformity at the age of 80 years. Anatomical dissection and radiological imaging revealed musculoskeletal anomalies associated with Sprengel's deformity, including Klippel-Feil syndrome, presence of an omovertebral bone, and absence of the trapezius muscle. In addition, bilateral cervical ribs were in contact with the brachial plexus. These anomalies may lead to numbness, pain, and limited range of motion of the neck and upper girdle with aging. CONCLUSIONS: Because most adult patients with Sprengel's deformity experience neck pain and limited movement of the shoulder, the presented case is a rare case of neglected Sprengel's deformity in an 80-year-old cadaver.

Klippel-Feil syndrome: Should additional examination be conducted?

PURPOSE: Klippel-Feil syndrome (KF) is a rare disease defined as single or multi-level cervical vertebra fusion. KF could be accompanied by other spinal anomalies or isolated, and in which case necessity of whole spine screening is not clearly known. KF is investigated in terms of prevalence, gender distribution, fusion types, and frequency of accompanying anomalies according to types of KF. METHODS: Approval from our hospital's ethics committee was received for this single-center, retrospective study. Considering the exclusion criteria among the 40,901 cervical spine MRIs, 40,450 patients were included in the study. It was re-evaluated for KF, fusion level, classification, cervical scoliosis, and other musculoskeletal and spinal anomalies. RESULTS: 125 (0.309%) of 40,450 patients is diagnosed with KF, which is more common in women (P < 0.001). Single fused segment 106 (84.8%), multilevel fused segments 8 (6.4%), contiguous fused segments 11 (8.8%) are observed. Upper level KF is detected in 13 (10.4%) patients. The frequency of additional anomaly is significantly higher in upper level KF compared to other level fusions (P < 0.001, Chi-square t). The cervical scoliosis is diagnosed 34 (27%). In KF patients with scoliosis, the frequency of additional anomalies was significantly higher (P < 0.001, Chi-square t). CONCLUSION: Klippel-Feil prevalence is 0.309%, it is frequently observed in women, and at C2-C3 level. Additional anomalies are especially associated with 'contiguous fused segments' and 'upper level' types. Klippel-Feil with scoliosis is an indicator of increased risk for associated anomalies, and examination of the whole spine is recommended.

A Novel Technique for Basilar Invagination Treatment in a Patient with Klippel-Feil Syndrome: A Clinical Example and Brief Literature Review.

Objectives and Background: To present a novel technique of treatment for a patient with basilar invagination. Basilar invagination (BI) is a congenital condition that can compress the cervicomedullary junction, leading to neurological deficits. Severe cases require surgical intervention, but there is debate over the choice of approach. The anterior approach allows direct decompression but carries high complication rates, while the posterior approach provides indirect decompression and offers good stability with fewer complications. Materials and Methods: A 15-year-old boy with severe myelopathy presented to our hospital with neck pain, bilateral upper limb muscle weakness, and hand numbness persisting for 4 years. Additionally, he experienced increased numbness and gait disturbance three months before his visit. On examination, he exhibited hyperreflexia in both upper and lower limbs, muscle weakness in the bilateral upper limbs (MMT 4), bilateral hypoesthesia below the elbow and in both legs, mild urinary and bowel incontinence, and a spastic gait. Radiographs revealed severe basilar invagination (BI). Preoperative images showed severe BI and that the spinal cord was severely compressed with odontoid process. Results: The patient underwent posterior surgery with the C-arm free technique. All screws including occipital screws were inserted into the adequate position under navigation guidance. Reduction was achieved with skull rotation and distraction. A follow-up at one year showed the following results: Manual muscle testing results and sensory function tests showed almost full recovery, with bilateral arm recovery (MMT 5) and smooth walking. The cervical Japanese Orthopedic Association score of the patient improved from 9/17 to 16/17. Postoperative images showed excellent spinal cord decompression, and no major or severe complications had occurred. Conclusions: Basilar invagination alongside Klippel-Feil syndrome represents a relatively uncommon condition. Utilizing a posterior approach for treating reducible BI with a C-arm-free technique proved to be a safe method in addressing severe myelopathy. This novel navigation technique yields excellent outcomes for patients with BI.

Genetic insights into the 'sandwich fusion' subtype of Klippel-Feil syndrome: novel FGFR2 mutations identified by 21 cases of whole-exome sequencing.

BACKGROUND: Klippel-Feil syndrome (KFS) is a rare congenital disorder characterized by the fusion of two or more cervical vertebrae during early prenatal development. This fusion results from a failure of segmentation during the first trimester. Although six genes have previously been associated with KFS, they account for only a small proportion of cases. Among the distinct subtypes of KFS, "sandwich fusion" involving concurrent fusion of C0-1 and C2-3 vertebrae is particularly noteworthy due to its heightened risk for atlantoaxial dislocation. In this study, we aimed to investigate novel candidate mutations in patients with "sandwich fusion." METHODS: We collected and analyzed clinical data from 21 patients diagnosed with "sandwich fusion." Whole-exome sequencing (WES) was performed, followed by rigorous bioinformatics analyses. Our focus was on the six known KFS-related genes (GDF3, GDF6, MEOX1, PAX1, RIPPLY2, and MYO18). Suspicious mutations were subsequently validated through in vitro experiments. RESULTS: Our investigation revealed two novel exonic mutations in the FGFR2 gene, which had not previously been associated with KFS. Notably, the c.1750A > G variant in Exon 13 of FGFR2 was situated within the tyrosine kinase domain of the protein, in close proximity to several established post-translational modification sites. In vitro experiments demonstrated that this certain mutation significantly impacted the function of FGFR2. Furthermore, we identified four heterozygous candidate variants in two genes (PAX1 and MYO18B) in two patients, with three of these variants predicted to have potential clinical significance directly linked to KFS. CONCLUSIONS: This study encompassed the largest cohort of patients with the unique "sandwich fusion" subtype of KFS and employed WES to explore candidate mutations associated with this condition. Our findings unveiled novel variants in PAX1, MYO18B, and FGFR2 as potential risk mutations specific to this subtype of KFS.

Mitral Valve Regurgitation in Klippel-Feil Syndrome With Related Thoracic Deformity.

Klippel-Feil syndrome, characterized by congenital fusion of any 2 or more cervical vertebrae, is a rare disorder in which skeletal and other organ system-related abnormalities have been reported. This article reports a case of mitral valve regurgitation in a patient with Klippel-Feil syndrome and related thoracic deformity who underwent mitral valvuloplasty. Postoperatively, the mitral valve regurgitation disappeared, and there has been no recurrence for 3 years. This case highlights mitral valvuloplasty via median sternotomy as an excellent treatment for mitral valve regurgitation in a patient with thoracic deformity related to Klippel-Feil syndrome.

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

BACKGROUND: Klippel-Feil syndrome is a rare congenital bone disorder characterized by an abnormal fusion of two or more cervical spine vertebrae. Individuals with Klippel-Feil syndrome exhibit diverse clinical manifestations, including skeletal irregularities, visual and hearing impairments, orofacial anomalies, and anomalies in various internal organs, such as the heart, kidneys, genitourinary system, and nervous system. CASE PRESENTATION: This case report describes a 12-year-old Pashtun female patient who presented with acute bilateral visual loss. The patient had Klippel-Feil syndrome, with the typical clinical triad symptoms of Klippel-Feil syndrome, along with Sprengel's deformity. She also exhibited generalized hypoalgesia, which had previously resulted in widespread burn-related injuries. Upon examination, bilateral optic disc swelling was observed, but intracranial pressure was found to be normal. Extensive investigations yielded normal results, except for hypocalcemia and low vitamin D levels, while parathyroid function remained within the normal range. Visual acuity improved following 2 months of calcium and vitamin D supplementation, suggesting that the visual loss and optic nerve swelling were attributed to hypocalcemia. Given the normal parathyroid function, it is possible that hypocalcemia resulted from low vitamin D levels, which can occur after severe burn scarring. Furthermore, the patient received a provisional diagnosis of congenital insensitivity to pain on the basis of the detailed medical history and the findings of severe and widespread loss of the ability to perceive painful stimuli, as well as impaired temperature sensation. However, due to limitations in genetic testing, confirmation of the congenital insensitivity to pain diagnosis could not be obtained. CONCLUSION: This case highlights a rare presentation of transient binocular vision loss and pain insensitivity in a patient with Klippel-Feil syndrome, emphasizing the importance of considering unusual associations in symptom interpretation.

Klippel-Fiel syndrome with rare presentation of bilateral temporomandibular joint osteoarthritis - A case report.

BACKGROUND: Klippel-Fiel syndrome (KFS) is a rare congenital skeletal disorder characterized clinically by presence of a triad of short neck, limited neck mobility (due to fused cervical vertebrae) and low posterior hair line. It was first described by Maurice Klippel and Andre Feil in 1912. Various skeletal and non-skeletal anomalies may be seen in association with KFS. CASE PRESENTATION: This report aims to highlight orofacial manifestations of a 16-year-old male patient with KFS along with a rare presentation of bilateral osteoarthritic changes in the temporomandibular joint. The treatment planning and execution for such a case has also been described. CONCLUSION: Bilateral osteoarthritic changes of temporomandibular joint have been rarely reported in KFS. This report emphasizes that early diagnosis of various associated anomalies and timely intervention through an interdisciplinary approach is very essential in the management of patients with KFS.

Chiari type III malformation associated with Klippel-Feil syndrome, a case report with a narrative review of the literature.

BACKGROUND: Chiari malformation type III (CM III), a rare hindbrain anomaly, often presents with various concurrent anomalies. This paper reports a unique case of CM III associated with Klippel-Feil syndrome (KFS), a condition previously unreported in Saudi Arabia and documented in only one other case globally in Turkey. This study aims to share insights into the unusual association between CM III and KFS, considering their close embryological development and involvement in the craniocervical junction. METHODOLOGY: The study presents a case of a 2.5-year-old female diagnosed with CM III and KFS. Diagnostic tools such as ultrasound, CT scans, MRI, and physical examinations were used to confirm the patient's condition. Surgical interventions, including decompression and encephalocele repair, were performed. RESULTS: Successful surgical interventions, including encephalocele repair and duraplasty, were carried out. Follow-up visits indicated a stable condition, marked improvement in lower limb strength, and the patient's ability to walk with assistance. CT follow-up affirmed a satisfactory surgical outcome. CONCLUSION: This case study illustrates the potential for an optimistic prognosis in CM III, even when accompanied by complex conditions such as KFS, through early diagnosis and intervention. It underscores the significance of antenatal screening for effective care planning and calls for further research and publications due to the rarity of this association. These findings contribute to our understanding of CM III and its related conditions, emphasizing the need for open-minded consideration of potential embryological associations.

Tetraparesis following thoracic spine surgery in a patient with Klippel-Feil syndrome and ABCB4 mutation: a case report.

BACKGROUND: Klippel-Feil syndrome is a rare condition described in 1912 by Maurice Klippel and André Feil. It is defined as a congenital cervical fusion of at least two vertebrae, associated with a classical triad of clinical signs: short neck, low posterior hairline, and limited range of movement. However, Klippel-Feil syndrome manifests with a vast spectrum of phenotypes, ranging from no symptoms to complete triad, with or without other associated malformations. Most commonly, CCF results from sporadic mutations, even though autosomal recessive, autosomal dominant, or even X-linked inheritance can be detected. The ATP-binding cassette subfamily B member 4 is only expressed in the liver and is involved in biliary phospholipid secretion. The clinical spectrum includes various hepatobiliary pathologies, including low phospholipid-associated cholelithiasis, and has never been associated with musculoskeletal anomalies. CASE PRESENTATION: A 55-year-old male Caucasian patient presenting with low phospholipid-associated cholelithiasis syndrome with ATP-binding cassette subfamily B member 4 mutation and liver cirrhosis was referred to our clinic for a liver transplant. A period of 6 months before, the patient underwent a T7-T9 posterior fixation for a T8 osteoporotic fracture. Postoperatively, he was tetraparetic, whereas he was neurologically intact before the operation. At admission to our hospital, he was still tetraparetic and presented with clinical signs of cervical myelopathy. Moreover, he suffered a limitation of cervical range of motion in all directions, short neck, and low posterior hairline. Imaging showed multiple cervical and thoracic vertebral bodies fusion, as well as cervical spine stenosis. Based on the available data, we diagnosed a type 3 Klippel-Feil syndrome according to Samartzis' classification. CONCLUSIONS: The heterogeneity of KFS and the various potential hereditary links that are known indicate that it is important to highlight all potential cases related to known genetic defects. At present, no association between ATP-binding cassette subfamily B member 4 mutation and congenital cervical fusions has been reported. The other important clinical focus of this case is the appearance of spontaneous tetraparesis after thoracic spine surgery. This mechanism remains unclear, but considering different spinal anatomy it might have been due to difficult intubation and patient's positioning during his previous operation.

Brown Sequard syndrome in a patient with Klippel-Feil syndrome following minor trauma: a case report and literature review.

BACKGROUND: There are some cases of Klippel-Feil syndrome with spinal cord injury in clinical work. However, there is no literature report on Brown-Sequard syndrome after trauma. We report a case of Brown-Sequard syndrome following minor trauma in a patient with KFS type III. Her Brown-Sequard syndrome is caused by Klippel-Feil syndrome. CASE PRESENTATION: We found a 38-year-old female patient with KFS in our clinical work. She was unconscious on the spot following a minor traumatic episode. After treatment, her whole body was numb and limb activity was limited. Half an hour later, she felt numb and weak in the right limb and weak in the left limb. She had no previous hypertension, diabetes, or coronary heart disease. After one-month treatment of medication, hyperbaric oxygen, rehabilitation, and acupuncture in our hospital, her muscle strength partially recovered, but the treatment effect was still not satisfactory. Then, she underwent surgical treatment and postoperative comprehensive treatment, and rehabilitation training. She was able to take care of herself with assistance, and her condition improved from grade B to grade D according to the ASIA (ASIA Impairment Scale) classification. CONCLUSION: KFS, also known as short neck deformity, is a kind of congenital deformity characterized by impaired formation and faulty segmentation of the cervical spine, often associated with abnormalities of other organs. The cervical deformity in patients with KFS can alter the overall mechanical activity of the spine, as well as the compensatory properties of the spine for decelerating and rotatory forces, thus increasing the chance of spinal cord injury (SCI) following trauma. Many mechanisms can make patients more susceptible to injury. Increased range of motion of the segment adjacent to the fused vertebral body may lead to slippage of the adjacent vertebral body and altered disc stress, as well as cervical instability. SCI can result in complete or incomplete impairment of motor, sensory and autonomic nervous functions below the level of lesion. This woman presented with symptoms of BSS, a rare neurological disorder with incomplete SCI. Judging from the woman's symptoms, we concluded that previously she had KFS, which resulted in SCI without fracture and dislocation following minor trauma, with partial BSS. After the comprehensive treatment of surgery, hyperbaric oxygen, rehabilitation therapy, and neurotrophic drugs, two years later, we found her symptoms significantly improved, with ASIA Impairment Scale from grade B to grade D, and her ability to perform activities of daily living with aids.

Evolving Concepts of Craniovertebral and Spinal Instability.

Weakness of the muscles of the nape of the neck and back of the spine and its related instability is the nodal point of pathogenesis of a number of clinical and pathological events at the craniovertebral junction and the spine. Whilst acute instability results in sudden and relatively severe symptoms, chronic or long-standing instability is associated with a range of musculoskeletal and structural spinal alterations. Telescoping of the spinal segments results in "vertical" spinal instability in the subaxial spine and central or axial atlantoaxial instability (CAAD) at the craniovertebral junction. Instability in such cases might not be observed on dynamic radiological imaging. Chiari formation, basilar invagination, syringomyelia, and Klippel-Feil alteration are some of the secondary alterations as a result of chronic atlantoaxial instability. Radiculopathy/myelopathy related to spinal degeneration or ossification of posterior longitudinal ligament appears to have their origin from vertical spinal instability. All the secondary alterations in the craniovertebral junction and subaxial spine that are traditionally considered pathological and to have compressive and deforming role are essentially protective in nature, are indicative of instability, and are potentially reversible following atlantoaxial stabilization. Stabilization of unstable spinal segments is the basis of surgical treatment.

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

BACKGROUND: Few studies have described a transmandibular approach for decompression in a patient with Klippel-Feil syndrome (KFS) for cervical myelopathy. OBJECTIVE: 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. METHODS: 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. RESULTS: 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. CONCLUSION: 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.

Klippel-Feil Syndrome Associated with Renal and Cardiac Anomalies in an Infant: A Case Report.

Klippel-Feil syndrome is a rare congenital bone disorder characterised by a triad of short neck, low posterior hairline and limited lateral bending of the neck with an annual incidence of 1 in 40,000 live births. It has remained an obscure term in the medical literature because of its variability in presentation and wide spectrum of anomalies involving multiple organ systems. It is unusual to find a case that has all three classical triad features. Here, we present a case of a 9-month-old infant who manifests not only all three classical triad features associated with Klippel-Feil syndrome but also demonstrates the presence of congenital heart disease, scoliosis, and renal ectopia. An early comprehensive evaluation of a suspected case is essential for diagnosis and counselling which impacts its prognosis, helps minimize social stigma and affords parents the opportunity to consider cosmetic surgery as an option, should they choose to pursue it. Keywords: case reports; congenital; heart diseases; Klippel-Feil syndrome; scoliosis.

Surgical Management Of Irreducible Atlanto-Axial Dislocation With OS Odontoideum And Klippel-Feil Syndrome.

Klippel-Feil syndrome (KFS) is the congenital fusion of two or more cervical vertebrae which is often associated with various other abnormalities in the cervical spine. Involvement the upper cervical segments leads to atlanto-axial instability which manifests as progressive neurological symptoms due to compression on the spinal cord. These cases pose a surgical challenge due the abnormal and unique anatomy of each patient. A 37-year-old patient presented with neck pain and cervical myelopathy due to a posterior subluxation of C2-3 fused segment over C4-6 fused segment. The patient had an os odontoideum, incomplete posterior arch of C1, anomalous course of vertebral artery and C3 hemi-vertebra. The patient was successfully managed with transoral odontoidectomy and occipeto-cervical fusion. Irreducible atlanto-axial dislocation in a patient with an abnormal upper cervical spine anatomy may require transoral decompression followed by posterior fusion.

Application of C2 subfacetal screws for the management of atlantoaxial dislocation in patients with Klippel-Feil syndrome characterized by a narrow C2 pedicle and high-riding vertebral artery.

OBJECTIVE: This study aims to investigate the clinical application and feasibility of C2 subfacetal screws in patients with Klippel-Feil syndrome (KFS), narrow C2 pedicles, and high-riding vertebral arteries (HRVAs). METHODS: The clinical data of seven patients with KFS, atlantoaxial dislocation, narrow C2 pedicles, and HRVAs treated with C2 subfacetal screws were analyzed in this retrospective study. The internal height, isthmus height, and pedicle width of C2 vertebra were measured using preoperative computed tomography (CT). Subfacetal screws were inserted for 7 patients (12 sides). The position and length of the screws were observed using postoperative CT. Intraoperative dura mater and vertebral artery (VA) injuries were recorded. Bone fusion was observed using follow-up CT. RESULTS: The internal height was 10.5 ± 3.2 mm, the isthmus height was 3.7 ± 1.8 mm, the pedicle width was 3.0 ± 1.4 mm, and the screw length was 19.7 ± 1.5 mm. All patients had HRVAs and narrow pedicles. No injury to the dura mater and vertebral artery (VA) occurred in this group of patients. Bone fusion was achieved in all patients during follow-up. CONCLUSIONS: In patients with KFS, HRVA, and a narrow C2 pedicle, there is sufficient space below the C2 articular surface for screw insertion. When the pedicle is narrow and the C2 pedicle screw is not suitable for placement due to possible injury to the VA, subfacetal screws are a feasible alternative.