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Klippel Feil Syndrome

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Klippel-Feil Syndrome With Auxiliary Anterior Cervical Meningomyelocele and Thoracic Syringomyelia: A Case Report.

Mehtab Alam, Ayaz Ul Haq, Muzaffar Shah, Usman Haqqani, Sajjad Ullah,

STUDY DESIGN:Case report. OBJECTIVE:Since this is the first ever case of a male patient with Klippel-Feil syndrome (KFS) with anterior cervical meningomyelocele and syringomyelia. All four previously reported cases were female patients. This makes this case unique. SUMMARY OF BACKGROUND DATA:KFS with auxiliary anterior cervical meningomyelocele is a rare entity. ... Read more >>

Spine (Spine)
[2020, 45(6):E342-E345]

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The mutational burden and oligogenic inheritance in Klippel-Feil Syndrome

Nan Wu, Ziquan Li, Sen Zhao, Siyi Cai, Yuanqiang Zhang, Lianlei Wang, Yuchen Niu, Xiaoxin Li, Jianhua Hu, Jingdan Chen, Shengru Wang, Huizi Wang, Gang Liu, Ye Tian, Zhihong Wu, Jianguo Zhang, Yipeng Wang,

<title>Abstract</title> <p> <bold>Background: </bold>Klippel-Feil syndrome (KFS) represents a rare anomaly characterized by congenital fusion of cervical vertebrae. The underlying molecular etiology remains largely unknown because of genetic and phenotypic heterogeneity. <bold>Methods:</bold> We consecutively recruited a Chinese cohort of 37 patients with KFS. The clinical manifestations and radiological assessments ... Read more >>

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Letter to the Editor. Klippel-Feil syndrome.

Atul Goel,

J Neurosurg Spine (Journal of neurosurgery. Spine)
[2020, :1-2]

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Bilateral Multilevel Cervical Rib and Bilateral Omovertebra in Klippel-Feil Syndrome.

Serap Satış, Nur Alparslan, Mustafa Tuna, Osman Dere, Alparslan Yetişgin,

BACKGROUND:Klippel-Feil syndrome was first described in 1912; a short neck, low posterior hairline, and decreased cervical joint range of motion are the classical triad of this disease. In this syndrome, which is rarely observed, the characteristics that have been reported include the following: scoliosis; Sprengel deformity; cervical rib; ear, nose, ... Read more >>

World Neurosurg (World neurosurgery)
[2020, 136:62-65]

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Klippel-Feil syndrome: a review of the literature.

Rim Frikha,

Klippel-Feil syndrome is a congenital defect in the formation or segmentation of the cervical spine. A wide spectrum of associated anomalies may be present. This heterogeneity has complicated clarification of the genetic causes and management of patient's with congenital vertebral fusion. In this review, we focussed on clinical heterogeneity; radiographic ... Read more >>

Clin. Dysmorphol. (Clinical dysmorphology)
[2020, 29(1):35-37]

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Congenital posterior cervical spine malformation due to biallelic c.240-4T>G RIPPLY2 variant: A discrete entity.

Margaux Serey-Gaut, Marcello Scala, Bruno Reversade, Lyse Ruaud, Christelle Cabrol, Francesco Musacchia, Annalaura Torella, Andrea Accogli, Nathalie Escande-Beillard, Jean Langlais, Gianluca Piatelli, Alessandro Consales, Vincenzo Nigro, Valeria Capra, Lionel Van Maldergem,

The clinical and radiological spectrum of spondylocostal dysostosis syndromes encompasses distinctive costo-vertebral anomalies. RIPPLY2 biallelic pathogenic variants were described in two distinct cervical spine malformation syndromes: Klippel-Feil syndrome and posterior cervical spine malformation. RIPPLY2 is involved in the determination of rostro-caudal polarity and somite patterning during development. To date, only ... Read more >>

Am. J. Med. Genet. A (American journal of medical genetics. Part A)
[2020, :]

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Characteristics and management of pain in patients with Klippel-Feil syndrome: analysis of a global patient-reported registry.

Kishan Patel, Hardy Evans, Samuel Sommaruga, Pia Vayssiere, Tariq Qureshi, Luis Kolb, Michael G Fehlings, Joseph S Cheng, Enrico Tessitore, Karl Schaller, Aria Nouri,

OBJECTIVE:Klippel-Feil syndrome (KFS) is characterized by congenital fusion of the cervical vertebrae. Due to its rarity, minimal research has been done to assess the quality and management of pain associated with this disorder. Using a large global database, the authors report a detailed analysis of the type, location, and treatment ... Read more >>

J Neurosurg Spine (Journal of neurosurgery. Spine)
[2019, :1-6]

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A New Method for Assessment of Upright Posture Intolerance.

Adnan I Qureshi,

Background:Upright posture intolerance can be seen in a variety of diseases but the current methodology is not quantifiable and limits the ability to identify response to treatment. Methods:A standard questionnaire was developed to assess the following aspects of upright posture tolerance: (1) How long can you stand straight without any ... Read more >>

J Vasc Interv Neurol (Journal of vascular and interventional neurology)
[2020, 11(1):42-45]

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Klippel Feil Syndrome: Clinical Phenotypes Associated With Surgical Treatment.

Laureen D Hachem, Francois Mathieu, Maria Lamberti-Pasculi, Brian W Hanak, Reinhard Zeller, Abhaya V Kulkarni, James Drake, George M Ibrahim,

STUDY DESIGN:Retrospective study. OBJECTIVE:To define distinct KFS patient phenotypes that are associated with the need for surgical intervention. SUMMARY OF BACKGROUND DATA:Klippel-Feil Syndrome (KFS) is characterized by the congenital fusion of cervical vertebrae, however, patients often present with a variety of other spinal and extra-spinal anomalies suggesting this syndrome encompasses ... Read more >>

Spine (Spine)
[2020, :]

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Anesthesia for elective bilateral sagittal slip osteotomy of the mandible and genioplasty in a young man with Klippel-Feil syndrome, Sprengel deformity, and mandibular prognathism.

Rathna Paramaswamy,

Klippel-Feil syndrome is characterized by congenital fusion of two or more cervical vertebrae, a low hair line at the back of the head, restricted neck mobility, and other congenital anomalies. We report a 16-year-old young man with Klippel-Feil syndrome, Sprengel deformity of the right scapula, thoracic kyphoscoliosis, and mandibular prognathism ... Read more >>

J Dent Anesth Pain Med (Journal of dental anesthesia and pain medicine)
[2019, 19(5):307-312]

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Answer to the Letter to the Editor of B. Hu et al. concerning "Demographics, presentation and symptoms of patients with Klippel-Feil syndrome: analysis of a global patient-reported registry" by Nouri et al. [Eur Spine J; (2019) 28(10): 2257-2265].

Aria Nouri,

Eur Spine J (European spine journal : official publication of the European Spine Society, the European Spinal Deformity Society, and the European Section of the Cervical Spine Research Society)
[2020, 29(2):385]

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Letter to the editor concerning "Demographics, presentation and symptoms of patients with Klippel-Feil syndrome: analysis of a global patient-reported registry" by Nouri et al. [Eur Spine J; (2019) 28(10): 2257-2265].

Bailong Hu, Haiyan Zhou, Xiaohua Zou,

Eur Spine J (European spine journal : official publication of the European Spine Society, the European Spinal Deformity Society, and the European Section of the Cervical Spine Research Society)
[2020, 29(2):384]

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Intrathoracic bifurcation of the left common carotid artery associated with rib fusion and Klippel-Feil syndrome.

Sedat Giray Kandemirli,

Common carotid artery usually bifurcates at the superior border of thyroid cartilage, corresponding to the C3-4 junction, however bifurcation level may vary. Common carotid bifurcation may have rare variations like separate origins of left internal and external carotid arteries from aortic arch, or bifurcation of common carotid artery within thoracic ... Read more >>

Surg Radiol Anat (Surgical and radiologic anatomy : SRA)
[2020, 42(4):411-415]

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Cervicothoracic Spinal Dysraphism: Unravelling the Pandora's Box.

Anant Mehrotra, Suyash Singh, Shruti Gupta, Satyadeo Pandey, Jayesh Sardhara, Kuntal K Das, Kamlesh S Bhaisora, Arun K Srivastava, Awadhesh K Jaiswal, Sanjay Behari,

Introduction:Cervicothoracic spinal dysraphism (CTSD) is relatively rare with reported incidence of 1%-6.5%. The entity has a separate spectrum of associations with other anomaly such as split cord malformation, Chiari malformation, and corpus callosum agenesis as compared with its lumbosacral counterpart. In this study, we have highlighted the associated anomalies (AAs). ... Read more >>

J Pediatr Neurosci (Journal of pediatric neurosciences)
[2019, 14(4):203-210]

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Proximal Adjacent Segment Disease Manifesting as Retroodontoid Pseudotumor After Fusion to C2.

Yingda Li, Allan Levi,

BACKGROUND:Although adjacent segment disease (ASD) following anterior cervical fusion has been well described in the literature, there is relative paucity of data on this pathology after posterior cervical fusion. To our knowledge, there have been no reported cases of proximal ASD following posterior fusion to C2. CASE DESCRIPTION:We present 2 ... Read more >>

World Neurosurg (World neurosurgery)
[2020, 133:90-96]

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Klippel-Feil: A constellation of diagnoses, a contemporary presentation, and recent national trends.

Peter L Zhou, Gregory W Poorman, Charles Wang, Katherine E Pierce, Cole A Bortz, Haddy Alas, Avery E Brown, Jared C Tishelman, Muhammad Burhan Janjua, Dennis Vasquez-Montes, John Moon, Samantha R Horn, Frank Segreto, Yael U Ihejirika, Bassel G Diebo, Peter Gust Passias,

Background:Klippel-Feil syndrome (KFS) includes craniocervical anomalies, low posterior hairline, and brevicollis, with limited cervical range of motion; however, there remains no consensus on inheritance pattern. This study defines incidence, characterizes concurrent diagnoses, and examines trends in the presentation and management of KFS. Methods:This was a retrospective review of the Kid's ... Read more >>

J Craniovertebr Junction Spine (Journal of craniovertebral junction & spine)
[2019, 10(3):133-138]

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Fracture-Dislocation of the Cervical Spine Secondary to Low-Impact Trauma in a Patient with Klippel-Feil Syndrome: A Case Report.

Yusuke Dodo, Yoshifumi Kudo, Koji Ishikawa, Ryo Yamamura, Haruka Emori, Hiroshi Maruyama, Akira Matsuoka, Katsunori Inagaki, Tomoaki Toyone,

Spine Surg Relat Res (Spine surgery and related research)
[2020, 4(1):84-86]

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Klippel-Feil syndrome misdiagnosed as spondyloarthropathy: case-based review.

Stjepan Čota, Iva Žagar, Valentina Delimar, Mislav Pap, Doroteja Perić, Porin Perić,

Spondyloarthropathy refers to any joint disease of the vertebral column, but the term is mainly used for a specific group of disorders called seronegative spondyloarthropathies (SpAs). The axial skeletal involvement, peripheral and extra-articular manifestations and an association with the major histocompatibility complex class I human leukocyte antigen-B27 (HLA B27) are ... Read more >>

Rheumatol. Int. (Rheumatology international)
[2019, 39(9):1655-1660]

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Difficult and failed airway in small neonates: Lightwand revisited.

Chitta R Mohanty, Suma R Ahmad, Bikram Kishore Behera, Snigdha Bellapukonda,

J Anaesthesiol Clin Pharmacol (Journal of anaesthesiology, clinical pharmacology)
[2020, 36(1):130-131]

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Klippel-Feil syndrome: A very unusual cause of severe aortic regurgitation visualized by multimodality imaging.

Monica Ahluwalia, Sankalp Sehgal, Alan F Vainrib, Robert Applebaum, Larry Latson, Mathew R Williams, Muhamed Saric,

A 51-year-old man with Klippel-Feil syndrome (KFS) and immunodeficiency syndrome, status postintravenous immunoglobulin therapy, presented with shortness of breath. He was found to have severe aortic regurgitation in the setting of a trileaflet aortic valve with thickened leaflets and mild prolapse of the right coronary cusp with left ventricular dilation ... Read more >>

Echocardiography (Echocardiography (Mount Kisco, N.Y.))
[2019, 36(8):1586-1589]

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Klippel-Feil Syndrome with Sprengel Deformity.

Georgi P Georgiev, Violeta Groudeva,

Coexistence of Klippel-Feil syndrome with Sprengel deformity and omovertebral bone is a rare complex bone abnormality with unknown incidence and etiology. Herein, we report a case of a 6-year-old girl with coexistence of these congenital abnormalities evaluated by three-dimensional computed tomography. We also make a brief review and discuss in ... Read more >>

J Radiol Case Rep (Journal of radiology case reports)
[2019, 13(5):24-29]

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Demographics, presentation and symptoms of patients with Klippel-Feil syndrome: analysis of a global patient-reported registry.

Aria Nouri, Kishan Patel, Hardy Evans, Mohamed Saleh, Mark R N Kotter, Robert F Heary, Enrico Tessitore, Michael G Fehlings, Joseph S Cheng,

INTRODUCTION:Klippel-Feil syndrome (KFS) occurs due to failure of vertebral segmentation during development. Minimal research has been done to understand the prevalence of associated symptoms. Here, we report one of the largest collections of KFS patient data. METHODS:Data were obtained from the CoRDS registry. Participants with cervical fusions were categorized into ... Read more >>

Eur Spine J (European spine journal : official publication of the European Spine Society, the European Spinal Deformity Society, and the European Section of the Cervical Spine Research Society)
[2019, 28(10):2257-2265]

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Surgeon-Assisted Continuous Transversus Abdominis Plane Block a Feasible Option for Perioperative Pain Relief in Pediatric Surgical Patients with Spinal Deformities.

Deepak Dwivedi, Saurabh Sud, Shalendra Singh, Rakesh Sharma,

J Indian Assoc Pediatr Surg (Journal of Indian Association of Pediatric Surgeons)
[2020, 25(2):126-128]

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Papillary Lesions of the Male Breast: A Study of 117 Cases and Brief Review of the Literature Demonstrate a Broad Clinicopathologic Spectrum.

Elaine Zhong, Esther Cheng, Michael Goldfischer, Syed A Hoda,

Papillary lesions of the male breast (PLMB) are uncommon. To date, PLMB have been reported as individual case reports and in relatively small series. We reviewed cases of PLMB diagnosed at our medical center over a 19-year (2000-2019) period. A total of 117 cases were identified, with an age range ... Read more >>

Am. J. Surg. Pathol. (The American journal of surgical pathology)
[2020, 44(1):68-76]

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Congenital Synostosis of Cervical Vertebrae: An Osteological Study and Review of the Literature.

George K Paraskevas, George Noussios, Konstantinos N Koutsouflianiotis, Kalliopi Iliou,

Introduction The possible appearance of congenital fusion of the second cervical vertebra with adjacent cervical vertebrae, along with its epidemiology, embryological development, and clinical manifestations, was the aim of the current study. Methods The osteological material of 93 dried second cervical vertebrae of both sexes were examined in order to identify ... Read more >>

Cureus (Cureus)
[2019, 11(10):e6015]

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