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Otolaryngological Presentations of Klippel-Feil Syndrome: A Systematic Review.
Cureus
November 2024
Otolaryngology - Head and Neck Surgery, Freeman Health System, Joplin, USA.
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.
View Article and Find Full Text PDFSprengel Deformity with Bilateral Omovertebral Bars in Klippel-Feil Syndrome.
Neurol India
November 2024
Department of Radiodiagnosis, All India Institute of Medical Sciences, Bhubaneswar, Odisha, India.
Cardiovascular Findings in Klippel-Feil Syndrome: A Systematic Review.
Cureus
October 2024
Graduate Medical Education, Unity Health, Searcy, USA.
Article Synopsis
- * 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.
The Synergistic Effects of Incobotulinum Toxin and Physiotherapy in a Rare Case of Paraparesis in a 7-Year-Old Affected by Klippel-Feil Syndrome Related to an Gene Mutation: A Case Report.
J Pers Med
October 2024
Department of Translational Biomedicine and Neuroscience (DiBraiN), Aldo Moro University, G. Cesare Place 11, 70125 Bari, Italy.
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.
View Article and Find Full Text PDFSuccessful surgical management of anterior cervical meningomyelocele associated with Klippel-Feil deformity using anterior vertebral reconstruction: a case report.
Br J Neurosurg
November 2024
CHU de Poitiers, Service de Neurochirurgie du rachis, Chirurgie de la Douleur et du Handicap, France.
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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