1,275 results match your criteria: "Klippel-Feil Syndrome"

Klippel-Feil syndrome (KFS) is a rare congenital condition characterized by the fusion of cervical vertebrae. It classically presents with a triad of symptoms: limited cervical range of motion, a low posterior hairline, and a short neck. Common otolaryngological manifestations include hearing loss, dysphagia, cleft palate, jaw disorders, thyroid abnormalities, and ear malformations, highlighting the importance of KFS awareness in the field of otolaryngology.

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  • * A review of 43 articles from the past decade found that 72% of KFS cases exhibited congenital heart defects, with type III fusion being the most common.
  • * The study emphasizes the need for a multidisciplinary care team, including cardiovascular specialists, and suggests further research into KFS's origins and potential genetic markers.
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Background: Klippel-Feil disease is a condition characterized by a defect in the spine, consisting of the fusion or non-separation of two or more vertebrae of the cervical tract. It affects 1 in every 50,000 newborns, and the pathogenesis remains unknown to date, although the role of certain genes that are involved in segmentation processes is being studied. A single case of a genetic Myosin Heavy Chain 3 () mutation is described here.

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Case Report: A rare case of Klippel-Feil syndrome associated with anterior cervical meningomyelocele is reported, treated successfully using partial cervical corpectomy, spinal cord microsurgical reinsertion into the spinal canal, and vertebral reconstruction. A 71-year-old patient presented with upper limb paraesthesia, chronic neck pain, and progressive motor distal impairment. Cervical spine imaging revealed an anterior cervical meningomyelocele digging into C7 vertebra and underlying adjacent congenital fusion blocks.

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Symmetry is present in various aspects of everyday life. A symmetrical face is considered attractive, whereas a lack of facial symmetry is regarded as a source of functional and aesthetic problems. Most of the people exhibit slight asymmetries, but some of them reveal severe asymmetries.

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A novel classification of congenital cervicothoracic scoliosis: identification of coronal subtypes and their prognostic significance.

Eur Spine J

December 2024

Division of Spine Surgery, Department of Orthopedic Surgery, Nanjing Drum Tower Hospital, Affiliated Hospital of Medical School, Nanjing University, Zhongshan Road 321, Nanjing, 210008, China.

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The neural tube abnormality known as split cord malformation (SCM) is characterized by longitudinally separated functional hemicords. SCM is the result of a single basic ontogenetic error and may be associated with other anomalies. One such anomaly is Klippel-Feil syndrome (KFS), which is characterized by abnormal fusion of two or more cervical vertebrae.

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  • A case study of a 39-year-old man revealed he had lung disease, irregular heartbeats, scoliosis, and high blood pressure in the lungs, all indicating Klippel-Feil syndrome.
  • Treatment aimed to slow down the progression of his symptoms and address issues related to restricted lung function, emphasizing the need for early diagnosis and proper management due to the absence of established treatment guidelines.
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We report a rare 16-year-old male case of Klippel-Feil anomaly associated with fetal alcohol syndrome exhibiting complex congenital vascular anomalies. The congenital vascular anomalies observed were the absence of a left internal carotid artery, a left vertebral artery arising from the subclavian artery in a very high cervical location and a bovine arch. The vascular and vertebral anomalies were evaluated using CT and MRI before cervical surgery.

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  • The study investigates the feasibility, safety, and effectiveness of mobilizing the vertebral artery for inserting C2 pedicle screws in patients with a high-riding vertebral artery (HRVA).
  • A total of 15 patients underwent successful posterior occipitocervical fixation from January 2020 to September 2022, with the procedure allowing safe placement of screws and no reported complications.
  • Post-surgery results showed effective screw placement and successful bone fusion within six months, with no significant issues related to the surgery or neurological function.
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Treatment of Klippel-Feil syndrome with symptomatic atlantoaxial instability in a 7-year-old boy : A case report.

Orthopadie (Heidelb)

October 2024

Department of Orthopaedics, Heidelberg University Hospital, Schlierbacher Landstr. 200a, 69118, Heidelberg, Germany.

Klippel-Feil syndrome (KFS) is a congenital deformity of the cervical spine. Clinical symptoms of KFS are reduced range of motion, short neck and low hairline. In adult KFS patients the deformity can lead to adjacent segmental instability with spinal canal stenosis, radiculopathy and myelopathy.

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Klippel-Feil syndrome (KFS) is a rare congenital disorder characterized by the fusion of cervical vertebrae, limiting neck mobility, and often presenting with clinical manifestations such as neck pain, stiffness, and neurological deficits. While the classical presentation of KFS includes a "clinical triad" comprising a shortened neck, a low posterior hairline, and limited cervical motion, not all patients exhibit all three features. This case report presents an 81-year-old male with the complete KFS triad and underscores the diagnostic challenges and management strategies associated with this condition.

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3D computed tomography diagnosis of Klippel-Feil syndrome and Sprengel's deformity with omovertebral bone.

Pediatr Neonatol

September 2024

Diagnostic and Interventional Radiology, IRCCS Istituto Ortopedico Rizzoli, 40136, Bologna, Italy. Electronic address:

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Sprengel's deformity is a conspicuous anomaly, affecting one or both scapulas. The congenital elevation of the scapula is frequently accompanied by additional anomalies, such as rib, vertebral, or muscular deformities, among which are rib fusion or vertebral deformity. Defects in the cervical vertebrae are most likely to result in Klippel-Feil syndrome, which is characterised by a short neck, restrictions on head mobility, and low-growing neck hair.

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Klippel-Feil Syndrome (KFS) continues to pose significant challenges for anesthesiologists. Beyond the expected complexities of managing difficult airways in these patients, they often present with systemic anomalies that can elevate the risk of morbidity during surgeries conducted under anesthesia. Furthermore, laparoscopic procedures bring about additional physiologic changes that must be taken into consideration when planning the anesthetic care for these individuals.

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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.

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  • * A 16-year-old boy with KFS and severe BI was treated with surgical decompression, leading to gradual improvement in paralysis, though spasticity and opisthotonus remained and required intrathecal baclofen (ITB) therapy.
  • * The combined approach of surgery and ITB treatment significantly enhanced rehabilitation outcomes, allowing the patient to achieve self-propelled wheelchair driving and better daily living activities five years post-surgery.
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Klippel-Feil syndrome (KFS) is a triad comprising cervical spine fusion, a low posterior hairline, and constrained neck movement. This triad is not universally present. The most frequent accompaniment is Sprengel's scapula deformity.

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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.

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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.

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