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Comparing CT-like bone images based on FRACTURE MR with CT in pediatric congenital vertebral anomalies.
AJNR Am J Neuroradiol
December 2024
From the Department of Radiology (H.N.M., F.B.G.), Bai Jerbai Wadia Hospital for Children, Mumbai, Maharashtra, India.
Background And Purpose: Congenital vertebral anomalies are commonly associated with underlying spinal cord anomaly which necessitates imaging both the spinal cord and the bony vertebral column to understand the extent of the deformity better. While MRI is the gold standard for spinal cord imaging, it does not provide CT-like bone details. Many MR bone imaging techniques have been tested in various adult spine conditions in the past decade but not much has been described on their reliability in pediatric spine.
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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