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Combined Klippel-Feil syndrome, Sprengel deformity, and diffuse large B-cell lymphoma: A rare case report.
Radiol Case Rep
March 2025
Loyola University Medical Center and Loyola University Chicago, 2160 S First Ave, Maywood, IL 60153, USA.
Klippel-Feil syndrome (KFS) is a rare congenital disorder characterized by the fusion of cervical vertebrae, with a clinical presentation that can vary widely due to genetic and phenotypic diversity. While KFS can occur as an isolated anomaly, it is often associated with other congenital conditions, such as Sprengel deformity, which may present with or without an omovertebral bone, complicating diagnosis and management. This particular case also involves diffuse large B-cell lymphoma (DLBCL), the most common subtype of non-Hodgkin lymphoma.
View Article and Find Full Text PDFOtolaryngological 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.
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