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Klippel-feil syndrome

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https://www.readbyqxmd.com/read/27869419/-klippel-feil-syndrome-with-tracheoesophageal-fistula-bifid-thumb-and-cerebral-angiolipoma
#1
Eliéxer Urdaneta Carruyo, Gustavo Rojas Zerpa, Adriana Urdaneta Contreras, Malvy Maldonado Alviarez, Miguel Brito Rodríguez
The Klippel-Feil syndrome is a congenital malformation of the skull flap involving complex cervical vertebrae and organs, characterized by a classic triad: short neck, limitation of movement of the head due to cervical spine fusion and low hairline in occipital region. It results from an error in the axial skeleton segmentation of the embryo; its incidence is estimated at 1/40,000-42,000 births and predominates in females. The aim of this paper is to describe the clinical picture of a patient with Klippel-Feil syndrome and multiple malformations, including tracheoesophageal fistula, bifid thumb and intracranial lipomas/angiolipomas,that have not been previously described in the syndrome, so it is considered an exceptional finding...
December 1, 2016: Archivos Argentinos de Pediatría
https://www.readbyqxmd.com/read/27861250/mri-analysis-of-the-combined-prospectively-collected-aospine-north-america-and-international-data-the-prevalence-and-spectrum-of-pathologies-in-a-global-cohort-of-patients-with-degenerative-cervical-myelopathy
#2
Aria Nouri, Allan Martin, Lindsay Tetreault, Anick Nater, So Kato, Hiroaki Nakashima, Narihito Nagoshi, Hamed Reihani-Kermani, Michael G Fehlings
STUDY DESIGN: Ambispective Analysis OBJECTIVE.: To report the global prevalence of specific degenerative cervical pathologies in patients with DCM through detailed review of MRIs SUMMARY OF BACKGROUND DATA.: Degenerative Cervical Myelopathy (DCM) encompasses a spectrum of age-related conditions that result in progressive spinal cord injury. METHODS: MRIs of 458 patients (age 56.4 +/-11.8, 285 Male, 173 Female) patients were reviewed for specific degenerative features, directionality of cord compression, levels of spinal cord compression, and signal changes on T2WI and T1WI...
November 16, 2016: Spine
https://www.readbyqxmd.com/read/27847299/an-mrspec-database-query-and-visualization-engine-with-applications-as-a-clinical-diagnostic-and-research-tool
#3
Filip Miscevic, Justin Foong, Benjamin Schmitt, Susan Blaser, Michael Brudno, Andreas Schulze
PURPOSE: Proton magnetic resonance spectroscopy (MRspec), one of the very few techniques for in vivo assessment of neuro-metabolic profiles, is often complicated by lack of standard population norms and paucity of computational tools. METHODS: 7035 scans and clinical information from 4430 pediatric patients were collected from 2008 to 2014. Scans were conducted using a 1.5T (n=3664) or 3T scanner (n=3371), and with either a long (144ms, n=5559) or short echo time (35ms, n=1476)...
November 9, 2016: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/27673225/poster-484-3d-printed-orthotic-designed-for-klippel-feil-syndrome-affected-hypoplastic-thumb-a-case-report
#4
Brian W Lee, Dona Rani C Kathirithamby, Cesar Colasante, Kyle Menze, Kyle Silva, Louis Dizon, Jared R Levin, Edward Alexeev
No abstract text is available yet for this article.
September 2016: PM & R: the Journal of Injury, Function, and Rehabilitation
https://www.readbyqxmd.com/read/27591474/airway-management-in-newborn-with-klippel-feil-syndrome
#5
Nuray Altay, Hasan H Yüce, Harun Aydoğan, Mustafa E Dörterler
Klippel-Feil syndrome (KFS) has a classical triad that includes short neck, low hair line and restriction in neck motion and is among one of the congenital causes of difficult airway. Herein, we present a 26-day, 3300g newborn with KFS who was planned to be operated for correction of an intestinal obstruction. She had features of severe KFS. Anesthesia was induced by inhalation of sevoflurane 2-3% in percentage 100 oxygen. Sevoflurane inhalation was stopped after 2min. Her Cornmack Lehane score was 2 and oral intubation was performed with 3...
September 2016: Brazilian Journal of Anesthesiology
https://www.readbyqxmd.com/read/27539778/extremely-large-amount-of-fused-segments-in-a-rare-case-of-klippel-feil-syndrome
#6
Rong Xing, Qingquan Kong
No abstract text is available yet for this article.
August 2016: Journal of the College of Physicians and Surgeons—Pakistan: JCPSP
https://www.readbyqxmd.com/read/27465418/surgical-treatment-of-occipitocervical-dislocation-with-atlas-assimilation-and-klippel-feil-syndrome-using-occipitalized-c1-lateral-mass-and-c2-fixation-and-reduction-technique
#7
Yi-Heng Yin, Guang-Yu Qiao, Xin-Guang Yu
OBJECTIVE: To introduce and assess a surgical treatment of occipitocervical (OC) dislocation with atlas assimilation and Klippel-Feil syndrome (KFS) using occipitalized C1 lateral mass and C2 fixation and reduction technique METHODS: From January 2007 to August 2013, 58 symptomatic patients with OC dislocation and KFS of C2-3 congenital fusion and atlas assimilation were surgically treated in our institution via this technique. After opening the C1-2 facet joints via posterior approach, OC reduction was conducted by intraoperative manipulation and C1 lateral mass and C2 pedicle screw and rod fixation...
July 24, 2016: World Neurosurgery
https://www.readbyqxmd.com/read/27444288/the-intriguing-history-of-vertebral-fusion-anomalies-the-klippel-feil-syndrome
#8
REVIEW
Erfanul Saker, Marios Loukas, Rod J Oskouian, R Shane Tubbs
INTRODUCTION: Our knowledge and understanding of vertebral fusion, defined and eponymously known as Klippel-Feil syndrome in the early 1900s, have a long history. This uncommon finding has been identified as early as 500 B.C. in an Egyptian mummy. Many more examples of spinal vertebra fusion have been described by Greek historians and recovered by archeologists demonstrating this entity's rich history. CONCLUSIONS: Klippel-Feil syndrome is a rare skeletal anomaly characterized by abnormal fusion of two or more vertebrae...
September 2016: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
https://www.readbyqxmd.com/read/27399514/316%C3%A2-magnetic-resonance-imaging-analysis-of-the-combined-aospine-north-america-and-international-studies-part-i-the-prevalence-and-spectrum-of-pathologies-in-a-global-cohort-of-patients-with-degenerative-cervical-myelopathy
#9
Aria Nouri, Allan R Martin, Lindsay Tetreault, Anick Nater, So Kato, Hiroaki Nakashima, Narihito Nagoshi, Hamed Reihani-Kermani, Michael G Fehlings
INTRODUCTION: Degenerative cervical myelopathy (DCM) encompasses a spectrum of age-related conditions that result in progressive spinal cord injury through static and dynamic injury mechanisms. Through detailed review of MRIs from prospective AOSpine multicenter studies, the global prevalence of degenerative cervical pathologies of surgically treated DCM patients is reported. METHODS: MRIs of 458 patients were obtained from North America (n = 197), Europe (n = 92), Latin America (n = 57), and Asia-Pacific (n = 112) and assessed for the type of pathology, source of stenosis, level of maximum cord compression, levels of spinal cord compression (SCC), presence of signal changes on T2-weighted images (T2WI) and T1-weighted images, and the levels of T2WI signal change...
August 2016: Neurosurgery
https://www.readbyqxmd.com/read/27390547/a-case-of-anomalous-origin-and-course-of-vertebral-artery-in-a-patient-with-klippel-feil-syndrome
#10
Onur Levent Ulusoy, Hadi Sasani, Sezgi Burçin Barlas, Ayhan Mutlu, Mehdi Sasani
Patients with Klippel-Feil syndrome (KFS) have an increased incidence of vascular anomalies as well as vertebral artery (VA) anomalies. In this article, we presented imaging findings of a 15-year-old female patient with KFS with a rare association of extraforaminal cranially ascending right VA that originated from the ipsilateral carotid bulb. Trifurcation of the carotid bulb with VA is a very unusual variation and to the best of our knowledge, right-sided one has not been reported in the literature.
July 2016: Korean Journal of Radiology: Official Journal of the Korean Radiological Society
https://www.readbyqxmd.com/read/27364256/monsters-and-the-case-of-l-joseph-andr%C3%A3-feil-s-thesis-on-the-origin-of-the-klippel-feil-syndrome-and-a-social-transformation-of-medicine
#11
Evgenii Belykh, Kashif Malik, Isabelle Simoneau, Kaan Yagmurlu, Ting Lei, Daniel D Cavalcanti, Vadim A Byvaltsev, Nicholas Theodore, Mark C Preul
André Feil (1884-1955) was a French physician best recognized for his description, coauthored with Maurice Klippel, of patients with congenital fusion of cervical vertebrae, a condition currently known as Klippel-Feil syndrome. However, little is known about his background aside from the fact that he was a student of Klippel and a physician who took a keen interest in describing congenital anomalies. Despite the relative lack of information on Feil, his contributions to the fields of spinal disease and teratology extended far beyond science to play an integral role in changing the misguided perception shrouding patients with disfigurements, defects, deformities, and so-called monstrous births...
July 2016: Neurosurgical Focus
https://www.readbyqxmd.com/read/27355085/-clinical-triad-findings-in-pediatric-klippel-feil-patients
#12
Dino Samartzis, Prakasam Kalluri, Jean Herman, John P Lubicky, Francis H Shen
BACKGROUND: It has been propagated that patients with Klippel-Feil syndrome (KFS) exhibit "clinical triad" findings (CTFs), known as a short neck, low posterior hairline, and limited cervical range of motion (ROM). However, the literature has noted that up to 50 % of KFS cases may not present with such findings and the reasoning behind such assertions remains speculative. As such, the following study addressed the association between CTFs to that of congenitally-fused cervical segments and other risk factors in KFS patients...
2016: Scoliosis and Spinal Disorders
https://www.readbyqxmd.com/read/27301052/crisis-management-of-accidental-extubation-in-a-prone-positioned-patient-with-klippel-feil-syndrome
#13
Matthew Spond, Tyler Burns, Thea Rosenbaum, Kristen Lienhart
We present the case of an accidental extubation in a prone-positioned patient with a challenging airway because of Klippel-Feil syndrome and previous cervical spine fusions. The surgical procedure was well underway when this occurred, which added substantially to the difficulties produced by this event. We herein highlight the corrective steps we took in our case. We also recommend the need for a comprehensive preoperative briefing with all operating room personnel together with an action plan for how to prevent this particular scenario...
June 15, 2016: A & A Case Reports
https://www.readbyqxmd.com/read/27188109/-a-patient-with-klippel-feil-syndrome-having-difficulties-in-inserting-and-placing-an-endotracheal-tube-under-general-anesthesia
#14
Yusuke Hashidume, Shunsuke Tachibana, Yukimasa Takada, Mitsutaka Edanaga, Michiaki Yamakage
A patient with Klippel-Feil syndrome had difficulties in inserting and placing an endotracheal tube under general anesthesia. Klippel-Feil syndrome, characterized by cervical vertebral fusion, scoliosis and endocardiosis, is a rare disease. Anesthesiologists should pay attention to management of anesthesia in airway troubles. A 53-year-old woman diagnosed with Klippel-Feil syndrome was scheduled for general anesthesia with intubation. We tried to insert an endotracheal tube using McGRATH MAC, but it was difficult to insert and place the tube...
April 2016: Masui. the Japanese Journal of Anesthesiology
https://www.readbyqxmd.com/read/27162441/a-case-of-fracture-through-fused-cervical-segments-following-trauma-in-a-patient-with-klippel-feil-syndrome
#15
Kentaro Mishima, Akira Itoi, Manabu Sugita, Youichi Yanagawa
No abstract text is available yet for this article.
April 2016: Journal of Emergencies, Trauma, and Shock
https://www.readbyqxmd.com/read/27032897/klippel-feil-syndrome-with-butterfly-vertebrae-rare-case
#16
Leyla Karaca, Recep Sade, Mecit Kantarci, Ihsan Yüce, Hayri Ogul, Gulsüm Bayraktutan
No abstract text is available yet for this article.
March 28, 2016: Spine Journal: Official Journal of the North American Spine Society
https://www.readbyqxmd.com/read/26990409/treatment-of-basilar-invagination-with-klippel-feil-syndrome-atlantoaxial-joint-distraction-and-fixation-with-transoral-atlantoaxial-reduction-plate
#17
Gejin Wei, Zhiyun Wang, Fuzhi Ai, Qingshui Yin, Zenghui Wu, Xiang Yang Ma, Junjie Xu, Chenglong Shi, Hong Xia
BACKGROUND: Klippel-Feil syndrome (KFS) is characterized by congenital vertebral fusion of the cervical spine and a wide spectrum of associated anomalies. In patients with KFS with basilar invagination (BI), compression of the brainstem and upper cervical cord results in neurological deficits, and decompression and occipitocervical reconstruction are required. The highly varied anatomy of KFS makes a posterior occipitocervical fixation strategy challenging. For these patients, the transoral atlantoaxial reduction plate (TARP) operation is an optimal option to perform a direct anterior fixation to achieve stabilization...
April 2016: Neurosurgery
https://www.readbyqxmd.com/read/26949683/a-wide-spectrum-of-axial-mesodermal-dysplasia-complex-with-rhombencephalic-anomaly-a-case-report
#18
Kang-Won Kim, Jeoung-Hwan Seo, Myoung-Hwan Ko, Yu-Hui Won, Sung-Hee Park
Axial mesodermal dysplasia complex (AMDC) arises in variable combinations of craniocaudal anomalies such as musculoskeletal deformities, neuroschisis, or rhombencephalic developmental disorders. To the best of our knowledge, the co-existence of AMDC with associated musculoskeletal anomalies, medullary neuroschisis with mirror movements, and cranial nerve anomalies has not yet been reported. Here, we report the case of a 4-year-old boy whose clinical features were suggestive of Goldenhar syndrome and Poland syndrome with Sprengel deformity...
February 2016: Annals of Rehabilitation Medicine
https://www.readbyqxmd.com/read/26909867/arterial-thoracic-outlet-syndrome-in-klippel-feil-syndrome
#19
Darpanarayan Hazra, Indrani Sen, Dheepak Selvaraj, Prabhu Premkumar, Sunil Agarwal
No abstract text is available yet for this article.
February 22, 2016: ANZ Journal of Surgery
https://www.readbyqxmd.com/read/26875281/-research-progress-of-klippel-feil-syndrome-with-ear-malformation
#20
REVIEW
Jinxiu Yang, Leren He
OBJECTIVE: To summarize the research progress in clinic, development, and genetics of the Klippel-Feil syndrome and its primary ear deformity. METHODS: The related literature at home and abroad concerning the Klippel-Feil syndrome with ear malformation was reviewed, analyzed, and summarized. RESULTS: The clinical manifestation and classification of Klippel-Feil syndrome are complicated. As one of the most important accompany malformations, ear deformity mainly leads to hearing impairment and abnormal appearance...
November 2015: Chinese Journal of Reparative and Reconstructive Surgery
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