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Abstract 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, 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.

Abstract 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.

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. [ABSTRACT FROM AUTHOR]

Klippel–Feil syndrome (KFS) has a genetically heterogeneous phenotype with six known genes, exhibiting both autosomal dominant and autosomal recessive inheritance patterns. PUF60 is a nucleic acid‐binding protein, which is involved in a number of nuclear processes, including pre‐mRNA splicing, apoptosis, and transcription regulation. Pathogenic variants in this gene have been described in Verheij syndrome due to either 8q24.3 microdeletion or PUF60 single‐nucleotide variants. PUF60‐associated conditions usually include intellectual disability, among other findings, some overlapping KFS; however, PUF60 is not classically referred to as a KFS gene. Here, we describe a 6‐year‐old female patient with clinically diagnosed KFS and normal cognition, who harbors a heterozygous de novo variant in the PUF60 gene (c.1179del, p.Ile394Serfs*7). This is a novel frameshift variant, which is predicted to result in a premature stop codon. Clinically, our patient demonstrates a pattern of malformations that matches reported cases of PUF60 variants; however, unlike most others, she has no clear learning difficulties. In light of these findings, we propose that PUF60 should be considered in the differential diagnosis of KFS and that normal cognition should not exclude its testing. [ABSTRACT FROM AUTHOR]

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. [ABSTRACT FROM AUTHOR]

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. [ABSTRACT FROM AUTHOR]

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. [ABSTRACT FROM AUTHOR]

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. [ABSTRACT FROM AUTHOR]

Abstract Vertebral malformations (VMs) pose a significant global health problem, causing chronic pain and disability. Vertebral defects occur as isolated conditions or within the spectrum of various congenital disorders, such as Klippel–Feil syndrome, congenital scoliosis, spondylocostal dysostosis, sacral agenesis, and neural tube defects. Although both genetic abnormalities and environmental factors can contribute to abnormal vertebral development, our knowledge on molecular mechanisms of numerous VMs is still limited. Furthermore, there is a lack of resource that consolidates the current knowledge in this field. In this pioneering review, we provide a comprehensive analysis of the latest research on the molecular basis of VMs and the association of the VMs-related causative genes with bone developmental signaling pathways. Our study identifies 118 genes linked to VMs, with 98 genes involved in biological pathways crucial for the formation of the vertebral column. Overall, the review summarizes the current knowledge on VM genetics, and provides new insights into potential involvement of biological pathways in VM pathogenesis. We also present an overview of available data regarding the role of epigenetic and environmental factors in VMs. We identify areas where knowledge is lacking, such as precise molecular mechanisms in which specific genes contribute to the development of VMs. Finally, we propose future research avenues that could address knowledge gaps.

Background: The Klippel-Feil syndrome (KFS) is a rare congenital anomaly characterized by the fusion of cervical vertebrae, which may be associated with other malformations, such as dermoid tumors and teratoma. Some theories explain the embryology of these associations. Another condition that may be present is the dermal sinus (DS), communication between intracranial tumors and the subcutaneous tissue, and predisposing infections. This case report aims to describe an association between these three pathologies as well as correlate them from the literature. This report was based on medical records retrospectively reviewed associated with the systematic bibliographical consultation using indexed databases based on inclusion and exclusion methods. Case Description: An adult male patient, 24 years old, was admitted to our service, presenting fever and meningeal irritation as initial symptoms. In the patient's clinical history, he was diagnosed with an occipital DS in his childhood, which was previously instructed to be operated on by another neurosurgical team, but the patient chose not to perform the procedure. The magnetic resonance imaging investigation showed a DS associated with a cerebellar infected mass with 2 cm on its main diameter. The patient was treated with preoperative antibiotic therapy and underwent gross total surgical resection of the tumor as well as DS correction, confirmed in the histopathological examination as a teratoma. After surgery, further computed tomography scan analysis showed the presence of cervical vertebrae fusion, compatible with KFS diagnosis. Conclusion: The association between KFS, cerebellar teratoma, and DS has not yet been described in the literature, with only the association of the first two being extremely rare. [ABSTRACT FROM AUTHOR]

Klippel–Feil syndrome, a rare congenital anomaly, has a classical triad of low posterior hairline, short neck, and restriction of neck movements. Complex airway anatomy increases the risk of neurological damage while handling the airway during positioning and laryngoscopy. We address the possible anesthetic challenges that one might face in these patients, such as difficult airway, difficult weaning from the ventilator with increased chances of reintubation, prolonged intensive care and mechanical ventilation, and difficult tracheostomy. Every anesthesiologist must be aware of the available options in the management of a difficult airway in emergent circumstances. Despite the numerous encounters, we were able to effectively manage a case of Klippel–Feil syndrome perioperatively.

Abstract 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.

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. [ABSTRACT FROM AUTHOR]

In the setting of "sandwich deformity" (concomitant C1 occipitalization and C2–3 nonsegmentation), the C1–2 joint becomes the only mobile joint in the craniovertebral junction. Atlantoaxial dislocation develops earlier with severer symptoms in sandwich deformity, which has been hypothesized to be due to the repetitive excessive tension in the ligaments between C1 and C2. To elucidate whether and how the major ligaments of the C1–2 joint are affected in sandwich deformity, and to find out the ligament most responsible for the earlier development and severer symptoms of atlantoaxial dislocation in sandwich deformity. A finite element (FE) analysis study. A three-dimensional FE model from occiput to C5 was established using anatomical data from a thin-slice CT scan of a healthy volunteer. Sandwich deformity was simulated by eliminating any C0–1 and C2–3 segmental motion respectively. Flexion torque was applied, and the range of motion of each segment and the tension sustained by the major ligaments of C1–2 (including the transverse and longitudinal bands of the cruciform ligament, the alar ligaments, and the apical ligament) were analyzed. Tension sustained by the longitudinal band of the cruciform ligament and the apical ligament during flexion is significantly larger in the FE model of sandwich deformity. In contrast, tension in the other ligaments is not significantly changed in the sandwich deformity model compared with the normal model. Considering the importance of the longitudinal band of the cruciform ligament to the stability of the C1–2 joint, our findings implicate that the early onset, severe dislocation, and unique clinical manifestations of atlantoaxial dislocation in patients with sandwich deformity are mainly due to the enlarged force loaded on the longitudinal band of the cruciform ligament. The enlarged force loaded on the longitudinal band of the cruciform ligament can add to its laxity and thus reducing its ability to restrict the cranial migration of the odontoid process. This is in accordance with our clinical experience that dislocation of the atlantoaxial joint in patients with sandwich deformity is mainly craniocaudal, which means severer cranial neuropathy, Chiari deformity, and syringomyelia, and more difficult surgical treatment. [ABSTRACT FROM AUTHOR]

Klippel-Feil Syndrome (KFS) is a rare genetic disorder characterized by the abnormal development of the cervical spine, leading to the fusion of two or more cervical vertebrae. The syndrome presents diverse symptoms, including limited neck movement, chronic pain, and neurological manifestations such as limb numbness or weakness. The severity of KFS can vary significantly, and treatment primarily focuses on symptom management and preventing complications such as scoliosis or spinal cord compression. Surgical interventions are often necessary for patients with complex forms of the syndrome. Interestingly, Chiari 1 malformation, a cranial anomaly affecting the brainstem, can coincide anatomically with KFS. In this case report, we present the case of a 9-year-old patient who sought medical attention due to persistent, unchanging neck pain. The patient's medical history was notable for developmental delays and cervical restraint observed during physical examination. Magnetic resonance imaging (MRI) findings revealed hydrocephalus and brainstem descent, indicating the presence of Chiari 1 malformation. Comprehensive MRI and CT scans were performed, and a management plan was formulated, primarily involving cranial surgery and physiotherapy. Implementation of the treatment approach resulted in significant improvement in the patient's symptoms. This case highlights the significance of considering Chiari 1 malformation as a potential comorbidity in patients diagnosed with KFS who present with persistent neck pain. Early detection and appropriate management of both conditions are crucial for achieving favorable outcomes and enhancing the quality of life for affected individuals. Understanding the complex interplay between KFS and Chiari 1 malformation is essential for providing comprehensive care and tailored treatment strategies. Further research is warranted to elucidate the underlying mechanisms linking these two conditions and to explore optimal management approaches for patients with dual pathology. By reporting this case, we contribute to the existing literature and increase awareness among healthcare professionals regarding the potential coexistence of KFS and Chiari 1 malformation. Continued efforts in identifying associated anomalies and optimizing therapeutic interventions will aid in improving patient outcomes and ensuring optimal care for individuals affected by these conditions. [ABSTRACT FROM AUTHOR]

Klippel–Feil syndrome, a rare congenital anomaly, has a classical triad of low posterior hairline, short neck, and restriction of neck movements. Complex airway anatomy increases the risk of neurological damage while handling the airway during positioning and laryngoscopy. We address the possible anesthetic challenges that one might face in these patients, such as difficult airway, difficult weaning from the ventilator with increased chances of reintubation, prolonged intensive care and mechanical ventilation, and difficult tracheostomy. Every anesthesiologist must be aware of the available options in the management of a difficult airway in emergent circumstances. Despite the numerous encounters, we were able to effectively manage a case of Klippel–Feil syndrome perioperatively. [ABSTRACT FROM AUTHOR]

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.

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.

We report an exceedingly rare case of Klippel-Feil syndrome (KFS), compounded by ipsilateral absence of the vas deferens, renal agenesis, and diaphragmatic hernia. Unilateral absence of the vas deferens was found incidentally during orchidopexy. To the best of our knowledge, no case of unilateral absence of the kidney and vas deferens has been reported in children with KFS.

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.

Case: A 22-year-old woman with Klippel-Feil syndrome who underwent cervical disc arthroplasty (CDA) presented 3 months postoperatively with worsening neck pain and radiculopathy. Work-up was negative for infection, but single-photon emission computed tomography revealed increased metabolic activity in the vertebral body below the implant. During revision, the implant was grossly loose and multiple cultures grew Cutibacterium acnes. She was treated with an antibiotic course and conversion to anterior fusion without recurrence. Conclusion: This report highlights the rare presentation of an early periprosthetic infection after CDA caused by C. acnes. [ABSTRACT FROM AUTHOR]

Genetic diseases affecting the skeletal system present with a wide range of symptoms that make diagnosis and treatment difficult. Genome‐wide association and sequencing studies have identified genes linked to human skeletal diseases. Gene editing of zebrafish models allows researchers to further examine the link between genotype and phenotype, with the long‐term goal of improving diagnosis and treatment. While current automated tools enable rapid and in‐depth phenotyping of the axial skeleton, characterizing the effects of mutations on the craniofacial skeleton has been more challenging. The objective of this study was to evaluate a semi‐automated screening tool can be used to quantify craniofacial variations in zebrafish models using four genes that have been associated with human skeletal diseases (meox1, plod2, sost, and wnt16) as test cases. We used traditional landmarks to ground truth our dataset and pseudolandmarks to quantify variation across the 3D cranial skeleton between the groups (somatic crispant, germline mutant, and control fish). The proposed pipeline identified variation between the crispant or mutant fish and control fish for four genes. Variation in phenotypes parallel human craniofacial symptoms for two of the four genes tested. This study demonstrates the potential as well as the limitations of our pipeline as a screening tool to examine multi‐dimensional phenotypes associated with the zebrafish craniofacial skeleton. [ABSTRACT FROM AUTHOR]

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Abstract 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.

Bone mineral and mass are low in limb bones that experience prolonged lack of, or minimal, mechanical stimulation. Cases of ancient human limb paralysis offering an opportunity to examine histological markers of cortical bone modelling and remodelling are rare. To improve our understanding of the spectrum of bone tissue response to its muscular disuse environment in archaeological contexts, we tested whether bone histology in an individual afflicted with long-term loss of muscle function showed unremodelled primary bone due to minimal/absent, mechanical stimulation. We examined cortical bone histology in a 1906–1523 cal BC atrophied post-cranium of a young adult (mid-20s) male who had suffered from Klippel-Feil Syndrome Type III, experiencing minimally paraplegia and potentially complete or intermittent quadriplegia in late childhood/early adolescence. Samples taken from the humeral and femoral midshaft displayed thin cortices and extensive retention of primary bone with only localised Haversian tissue or isolated secondary osteons. The retention of widespread primary bone and thin cortices in this adult individual is evidence for stunted modelling and remodelling due to immobility during early ontogeny. Our bone histology descriptions should be of interest to palaeobiologists investigating the effects of physical inactivity on bone microstructure in fossilised and archaeological human remains. [ABSTRACT FROM AUTHOR]

Background: A novel nanohydroxyapatite/polyamide-66 cage (n-HA/PA66 cage) with a horseshoe shape was designed to lower the subsidence rate of the traditional hollow cylindrical n-HA/PA66 cage. However, no studies have compared the incidence of subsidence in the two cages. The purpose of this study was to compare the long-term clinical and radiological outcomes of the novel n-HA/PA66 cage with the hollow cylindrical n-HA/PA66 cage after anterior cervical discectomy and fusion (ACDF) to treat single-level cervical degenerative disk disease (CDDD). Methods: Fifty-two patients with novel n-HA/PA66 cages (Group A) and fifty-five patients with hollow cylindrical n-HA/PA66 cages (Group B) were included. The radiological parameters included intervertebral height (IH), C2-7 angle (C2-7a), segmental alignment (SA), subsidence rate, and fusion rate. The clinical outcomes were visual analog scale (VAS) scores, Japanese Orthopedic Association (JOA) scores, and patient satisfaction rates. Results: The pre- and postoperative SA, C2-7a, and fusion rates of the patients in Groups A and B were similar. The preoperative and 6-month postoperative IHs in both groups were comparable. However, the final follow-up IH in Group B was significantly smaller than that in Group A (35.9 mm vs. 36.7 mm). The difference in the subsidence rates at the final follow-up between Group A (5.8%, 3/52) and Group B (18.2%, 10/55) was significant. The VAS score, JOA score, and patient satisfaction rate were not significantly different. Conclusions: The novel n-HA/PA66 cage had similar favorable SA, C2-7a, fusion rate, and clinical outcomes compared to the hollow cylindrical n-HA/PA66 cage for treating single-level ACDF. Moreover, the novel n-HA/PA66 cage achieved a lower subsidence rate and higher IH than the hollow cylindrical n-HA/PA66 cage at the final follow-up. [ABSTRACT FROM AUTHOR]

Abstract 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.

Cochlear implantation (CI) can be safely performed in patients with syndromic hearing loss. Here we present a case of CI in a child with Klippel-Feil syndrome with various skeletal, extraskeletal, cochleovestibular and Arnold-Chiari malformations. Multidisciplinary approach and good preoperative imaging play a key role in planning for surgery. [ABSTRACT FROM AUTHOR]

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. [ABSTRACT FROM AUTHOR]

Abstract Background Improper 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. Methods There 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. Results The 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

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. [ABSTRACT FROM AUTHOR]

Klippel-Feil syndrome is characterized by the congenital synostosis of multiple cervical vertebrae and commonly presents with a multitude of congenital abnormalities, mainly including cardiac and respiratory defects. We present the case of a 39-year-old male with a prolonged history of cardiopulmonary symptoms whose investigations revealed restrictive lung disease, ventricular trigeminy and bigeminy, cervical vertebrae fusion, thoracic lumbar scoliosis, and mild-to-moderate pulmonary hypertension, all consistent with a diagnosis of Klippel-Feil syndrome. His management focused on preventing the progression of these findings while minimizing the effects of his extrinsic pulmonary restriction. Given the lack of guidelines in the management of such patients, this report highlights the role of early diagnosis and adequate management of such patients to reduce its progression and prevent the development of complications., Competing Interests: Human subjects: Consent was obtained or waived by all participants in this study. Conflicts of interest: In compliance with the ICMJE uniform disclosure form, all authors declare the following: Payment/services info: All authors have declared that no financial support was received from any organization for the submitted work. Financial relationships: All authors have declared that they have no financial relationships at present or within the previous three years with any organizations that might have an interest in the submitted work. Other relationships: All authors have declared that there are no other relationships or activities that could appear to have influenced the submitted work., (Copyright © 2024, Bridglal et al.)

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 aim of this study is to show the cranial alterations that Klippel-Feil syndrome produced in a case older than 200 years. Few paleopathological case studies diagnosed as Klippel-Feil Syndrome are focused on cranial abnormalities. A skull numbered 778, belonging to the Federico Olóriz Aguilera collection (Spain, 19th century AD), Universidad Complutense de Madrid, belonging to a young man born in a town in the North of Spain, was investigated. This cranium was visually inspected, hence macroscopically and paleoradiologically studied, using the images obtained through conventional radiology and CT scan imaging. In addition to the vertebral fusion between the atlas (C1) and the axis (C2), atlanto-occipital fusion, basilar impression, obliteration of the sagittal suture, enlarged parietal foramina and significant craniofacial asymmetry affecting maxillary bones, sphenoid, orbits, nasal bones and both palatines were observed. Morphological findings make it possible to diagnose a Klippel-Feil syndrome, possibly type-II, although the lack of the rest of the spinal column renders it impossible to verify other spinal anomalies. As a limitation, only the cranium and two cervical vertebrae were preserved, hence the possible involvement of the rest of the skeleton cannot be verified. [ABSTRACT FROM AUTHOR]

In Klippel-Feil patients with atlantoaxial dislocation, narrow C2 pedicles are often encountered preventing pedicle screw placement. Alternative techniques, including translaminar screws, pars screws, and inferior process screws could not achieve 3-column rigid fixation, and have shown inferior biomechanical stability. The present study aimed to evaluate the feasibility, safety, and efficacy of C3 pedicle screws (C3PSs) as an option for atlantoaxial stabilization in Klippel-Feil patients, and to introduce a freehand technique, the "medial sliding technique," for safe and accurate C3PS insertion. Thirty-seven Klippel-Feil patients with congenital C2–3 fusion who have received atlantoaxial fixation were reviewed. Preoperative CT and CT angiography were acquired to evaluate the feasibility of C3PS placement. C1 lateral mass and C3PS constructs were used for atlantoaxial stabilization. The "medial sliding technique" was introduced to facilitate C3PS insertion. Clinical outcomes and complications were evaluated, and screw accuracy was graded on postoperative CT scans. Morphological measurements showed that more than 80% C3 pedicles could accommodate a 3.5-mm screw. Fifty-eight C3PSs were placed in 33/37 patients using the medial sliding technique. Overall, 96.7% screws were considered safe and there was no related neurovascular complications; 27/33 patients exhibited neurological improvement and 30/33 patients had a solid bone fusion at an average 19.3-month follow-up. Therefore, the C3PS was a feasible option for atlantoaxial fixation in Klippel-Feil patients. The clinically efficiency of C3PS was satisfied with high fusion rates and low complications. The medial sliding technique we used could facilitate safe and accurate placement of C3PSs in Klippel-Feil patients with fused C2–3 vertebra. [ABSTRACT FROM AUTHOR]

The case report of an 11 months infant is presented, who was referred to the Clinical Genetics Service of the Medical Genetics Provincial Center in Holguín province, due to facial dysmorphias associated with motor retardation, short neck and decreasing movements. Interrogation, exhaustive physical exam and radiological studies of cervical column were carried out that showed the fusion of cervical vertebras, which allowed to diagnose the Klippel-Feil syndrome. A qualification with exercises was projected to strengthen the paravertebral muscles and genetic advice to the family was provided. [ABSTRACT FROM AUTHOR]

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. Klippel–Feil syndrome is a skeletal disease with fusion of cervical vertebrae. During surgery, attention should be paid to the difficulty in airway management and the importance of being prepared for it using video laryngoscopy. Because anatomy of vessel and bladder were normal, technique of kidney transplant surgery was routine. [ABSTRACT FROM AUTHOR]

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

Klippel-Feil syndrome is a congenital malformation, the leading component of which is a violation of segmentation of the cervical vertebral bodies. The syndrome can be combined with other skeletal anomalies: skull asymmetry, scoliosis, high shoulder blades, and cervical ribs. Treatment of the syndrome is usually symptomatic; indications for surgical treatment are progressive neurological disorders and persistent pain syndrome, which usually develop due to instability of unblocked segments, or neurogenic pain. A clinical case of treatment of a 17-year-old patient with Klippel-Feil syndrome who developed a picture of severe upper limb monoparesis during three years due to compression of the brachial plexus associated with cervical ribs is presented. Decompression of the brachial plexus was performed, which led to rapid relief of pain syndrome and gradual partial regression of motor disorders. Due to incomplete restoration of the gripping function, tendon-muscle plasty of the right hand was performed, which significantly improved the possibility of self-care. The results of radiation and staged neurophysiological studies are described, as well as a review of the literature on the Klippel-Feil syndrome.