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Klippel-feil syndrome

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https://www.readbyqxmd.com/read/29904491/anomalous-vertebral-arteries-in-klippel-feil-syndrome-with-occipitalized-atlas-ct-angiography
#1
Ahmad Iyad Mubarak, Ajaykumar C Morani
Klippel-Feil syndrome is an uncommon anomaly that may be asymptomatic. Early clinical signs such as restricted neck motion or short neck can be subtle and incorrectly treated as spasms. High incidence of associated craniovertebral junction (CVJ) anomalies such as occipitalized atlas predisposes them to serious neurologic complications requiring invasive procedures and surgeries. However, these often have anomalous vertebral artery course which is more prone to injury during CVJ procedures, and also sparsely known in radiology literature...
April 2018: Radiology Case Reports
https://www.readbyqxmd.com/read/29887292/dexmedetomidine-in-difficult-airway-management-with-a-fibre-optic-bronchoscope-in-the-awake-patient-with-klippel-feil-syndrome
#2
S Pacreu, S Martínez, E Vilà, L Moltó, J Fernández-Candil
Klippel-Feil Syndrome is a disease characterised by congenital fusion of cervical vertebra, which leads to cervical limitation and instability. In these cases, the best option is the orotracheal intubation with the fibre-optic bronchoscope with the patient awake. The advantage is that cervical movements that could lead to neurological damage are minimised. In these patients, adequate sedation, together with instillation of local anaesthetic in the pharynx and hypopharynx, is the key to reducing patient discomfort and achieving successful orotracheal intubation...
June 7, 2018: Revista Española de Anestesiología y Reanimación
https://www.readbyqxmd.com/read/29886918/the-prevalence-of-klippel-feil-syndrome-a-computed-tomography-based-analysis-of-2-917-patients
#3
Jillian Gruber, Ahmed Saleh, Wajeeh Bakhsh, Paul T Rubery, Addisu Mesfin
STUDY DESIGN: Cross-sectional study. OBJECTIVE: To determine the prevalence of KFS in asymptomatic patients in New York State. SUMMARY OF BACKGROUND DATA: Klippel-Feil syndrome (KFS) is characterized by congenitally fused cervical vertebrae and may not be diagnosed clinically because most patients do not have the classic triad of short neck, low posterior hairline, and decreased neck range of motion. KFS may be associated with abnormalities such as congenital scoliosis and deafness, and patients are at higher risk for neurologic injury following cervical spine trauma...
July 2018: Spine Deformity
https://www.readbyqxmd.com/read/29763351/concomitant-temporomandibular-joint-ankylosis-and-maxillomandibular-fusion-in-a-child-with-klippel-feil-syndrome-a-case-report
#4
Deepika Pai, Abhay T Kamath, Pushpa Kini, Manish Bhagania, Saurabh Kumar
Klippel-Feil syndrome (KFS) is classically characterized by fusion of any of the two of seven cervical vertebrae. It is identified by the presence of a triad of clinical signs including short neck, limitation of head and neck movements and low posterior hairline. Unusual bony malformations leading to facial asymmetry is the most common oral manifestation associated with KFS. Such maxillomandibular fusion can also result in restricted mouth opening in children. It's a challenge to provide complete rehabilitation in such children...
May 15, 2018: Journal of Clinical Pediatric Dentistry
https://www.readbyqxmd.com/read/29731280/-sandwich-deformity-in-klippel-feil-syndrome-a-full-spectrum-presentation-of-associated-craniovertebral-junction-abnormalities
#5
Yinglun Tian, Dongwei Fan, Nanfang Xu, Shenglin Wang
Klippel-Feil syndrome (KFS) is defined as congenital fusion of two or more cervical vertebrae resulting from a segmentation failure in the developing spine. According to Samartzis et al., the most commonly fused segments are found at C2/3 (74.1%) and C6/7 (70.4%). In patients with C2/3 fusion, especially when there is additional C1 occipitalization, several secondary anomalies including atlantoaxial dislocation (AAD), basilar invagination (BI), Chiari malformation, and syringomyelia can be identified. In this report, we present a case of a 12-year-old patient with C2/3 and occipitalization and a "Full-Spectrum" presentation of associated CVJ abnormalities including C0/1 fusion, AAD, BI, Chiari malformation, syringomyelia, myelopathy and cranial neuropathy received neurological decompression of the cervico-medullary junction by posterior reduction of the AAD and reconstruction of her CVJ using an unconventional hybrid construct due to a high-riding right vertebral artery in C2...
May 3, 2018: Journal of Clinical Neuroscience: Official Journal of the Neurosurgical Society of Australasia
https://www.readbyqxmd.com/read/29693948/anesthetic-management-for-twice-in-a-child-with-klippel-feil-syndrome
#6
Takashi Hitosugi, Masanori Tsukamoto, Takeshi Yokoyama
Klippel-Feil syndrome (KFS) is a complex syndrome of osseous and visceral anomalies that include the classical clinical triad of short neck, limitation of head and neck movement and low posterior hairline. It may also be associated with anomalies of the genitourinary, musculoskeletal, neurologic and cardiac systems. We experienced surgery for a case of KFS complicated with cleft palate and ankyloglossia. This boy underwent palatoplasty with a push-back method at 19 months of age, and frenumectomy at 31 months...
May 2017: Masui. the Japanese Journal of Anesthesiology
https://www.readbyqxmd.com/read/29668480/the-6th-rare-disease-south-eastern-europe-see-meeting-skopje-macedonia-november-11th-2017
#7
Zoran Gucev, Velibor Tasic, Momir Polenakovic
The sixth SEE meeting on rare diseases (RDs) was held in MASA the November 10th, 2017. A block of lectures on rare renal diseases started the meeting: nephrotic syndrome, Alport syndrome, atypical HUS, hypophosphatemic rickets, CAKUT were presented in all complexities. Their molecular and genetic mechanisms were discussed. The discovery of a dozen of newly genes in CAKUT, congenital overgrowth, spodilocostal dysplasia, precocious puberty has been done with collaboration of Macedonian and foreign researchers...
December 1, 2017: Prilozi (Makedonska Akademija Na Naukite i Umetnostite. Oddelenie za Medicinski Nauki)
https://www.readbyqxmd.com/read/29619791/sedation-in-a-child-with-klippel-feil-syndrome-scheduled-for-magnetic-resonance-imaging
#8
Swati Chhabra, S K Singhal, Sadik Mohammed, Ghansham Biyani, Rakesh Pandey
No abstract text is available yet for this article.
April 2018: Korean Journal of Anesthesiology
https://www.readbyqxmd.com/read/29548946/anomaly-related-pathologic-atlantoaxial-displacement-in-pediatric-patients
#9
Olga M Pavlova, Sergey O Ryabykh, Alexander V Burcev, Alexander V Gubin
OBJECTIVE: To analyze clinical and radiologic features of pathologic atlantoaxial displacement (PAAD) in pediatric patients and to compose a treatment algorithm for anomaly-related PAAD. BACKGROUND: Criteria of different types of PAAD and treatment algorithms have been widely reported in the literature but are difficult to apply to patients with odontoid abnormalities, C2-C3 block, spina bifida C1, and children. METHODS: We evaluated results of treatment of 29 pediatric patients with PAAD caused by congenital anomalies of the craniovertebral junction (CVJ), treated in Ilizarov Center in 2009-2017, including 20 patients with atlantoaxial displacement (AAD) and 9 patients with atlantoaxial rotatory fixation...
March 13, 2018: World Neurosurgery
https://www.readbyqxmd.com/read/29492320/klippel-feil-syndrome-with-sprengel-deformity-and-extensive-upper-extremity-deformity-a-case-report-and-literature-review
#10
John W Stelzer, Miguel A Flores, Waleed Mohammad, Nathan Esplin, Jonathan J Mayl, Christopher Wasyliw
Introduction: Klippel-Feil syndrome (KFS) is a congenital anomaly resulting from fusion of cervical vertebral bodies secondary to the dysregulation of signaling pathways during somite development. It is commonly associated with scoliosis and Sprengel deformity. We present a case of KFS with commonly associated abnormalities as well as deformities that have not yet been reported in the literature. Case Presentation: A 3-year-old girl presented for further evaluation of a left upper extremity deformity following a negative genetic workup...
2018: Case Reports in Orthopedics
https://www.readbyqxmd.com/read/29372238/otolaryngologic-manifestations-of-klippel-feil-syndrome-in-children
#11
Margaret A Kenna, Alexandria L Irace, Julie E Strychowsky, Kosuke Kawai, Devon Barrett, Juliana Manganella, Michael J Cunningham
Importance: Children with Klippel-Feil syndrome (KFS), characterized principally by abnormal fusion of 2 or more cervical vertebrae, may have many additional congenital anomalies. The overall prevalence of otolaryngologic manifestations among patients with KFS has not been previously characterized. Objective: To define the otolaryngologic diagnoses made and procedures performed in 95 patients with KFS, which, to our knowledge, is the largest series of this challenging patient population published to date...
March 1, 2018: JAMA Otolaryngology—Head & Neck Surgery
https://www.readbyqxmd.com/read/29194060/cervical-deformity-and-potential-difficult-airway-management-in-klippel-feil-syndrome
#12
Mamta Chura, Nadine Odo, Edward Foley, Vaibhav Bora
No abstract text is available yet for this article.
May 2018: Anesthesiology
https://www.readbyqxmd.com/read/29137102/lateral-medullary-infarction-with-similar-features-of-brown-sequard-syndrome-caused-by-vertebrobasilar-dysplasia-and-klippel-feil-syndrome-a-case-report
#13
Jingzhe Han, Duanhua Cao, Guomei Ma, Tingting Wang, Ye Ji, Zhilei Kang
RATIONALE: Patients with Klippel-Feil syndrome (KFS) are always anomaly associated with vertebrobasilar dysplasia. That may present commonly as infarction of brainstem, medulla, and cerebellum. In this article, we reported a rare case of lateral medullary infarction (LMI) with similar features of Brown Sequard syndrome caused by vertebrobasilar dysplasia and KFS, and the 2 rare conditions that are causally related. The case is being reported because of its unusual and rare presentation...
November 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28967590/a-case-of-intrathoracic-carotid-bifurcation-without-klippel-feil-syndrome
#14
Ryo Itabashi, Yukako Yazawa, Yuya Shigehatake, Eisuke Furui
BACKGROUND: Intrathoracic carotid bifurcation is a rare vascular anomaly, with only 8 cases reported. This vascular anomaly was recently correlated with Klippel-Feil syndrome, a rare congenital disorder involving fusion of the cervical vertebrae. METHODS: A 70-year-old deaf mute man was admitted to our department because of right hemiparesis and right sensory disturbance. He displayed no abnormalities associated with Klippel-Feil syndrome. Diffusion-weighted imaging revealed acute multiple infarcts in bilateral hemispheres...
January 2018: Journal of Stroke and Cerebrovascular Diseases: the Official Journal of National Stroke Association
https://www.readbyqxmd.com/read/28781856/endoscopic-third-ventriculostomy-for-hydrocephalus-in-a-patient-with-klippel-feil-syndrome-a-case-report
#15
Tomohisa Ishida, Takashi Inoue, Miki Fujimura, Yoshiteru Shimoda, Masayuki Ezura, Hiroshi Uenohara, Teiji Tominaga
A patient with Klippel-Feil syndrome presented with hydrocephalus secondary to intraventricular hemorrhage. Fusion of the cervical vertebrae may have impeded cerebrospinal fluid flow. Change in the properties of cerebrospinal fluid flow after hemorrhage may have induced noncommunicating hydrocephalus. Endoscopic third ventriculostomy was effective for the treatment of hydrocephalus associated with Klippel-Feil syndrome.
August 2017: Clinical Case Reports
https://www.readbyqxmd.com/read/28719048/developmental-mechanisms-of-intervertebral-disc-and-vertebral-column-formation
#16
REVIEW
Lisa Y Lawson, Brian D Harfe
The vertebral column consists of repeating units of ossified vertebrae that are adjoined by fibrocartilagenous intervertebral discs. These structures form from the embryonic notochord and somitic mesoderm. In humans, congenital malformations of the vertebral column include scoliosis, kyphosis, spina bifida, and Klippel Feil syndrome. In adulthood, a common malady affecting the vertebral column includes disc degeneration and associated back pain. Indeed, recent reports estimate that low back pain is the number one cause of disability worldwide...
November 2017: Wiley Interdisciplinary Reviews. Developmental Biology
https://www.readbyqxmd.com/read/28626413/the-crossed-flexor-plantar-response-in-patients-with-klippel-feil-syndrome
#17
Anna Sadnicka, Simon F Farmer
The plantar reflex is one of most important and widely tested components of the neurological examination. We describe 3 subjects with Klippel-Feil syndrome and mirror movements where unilateral cutaneous stimulation of the foot leads to flexor plantar responses in both feet. We discuss the evidence which suggests that this "crossed flexor" plantar response reveals a transcortical pathway for the flexor plantar response.
May 2017: Case Reports in Neurology
https://www.readbyqxmd.com/read/28553382/klippel-feil-syndrome-associated-with-sacral-agenesis-low-lying-cord-lipomyelomeningocele-and-split-cord-malformation-presenting-with-tethered-cord-syndrome-pentads-neural-tube-defects-spread-along-whole-spinal-axis
#18
Guru Dutta Satyarthee, Amandeep Kumar
Neural tube defects are congenital development anomaly of the central nervous system and usually have relatively more predilection to affect at anterior and posterior neuropore embryological development sites, so usually one or two defects are commonly encountered. However, occurrence of simultaneous multiple neural tube defects is very rare, presence of constellation of five neural defects is extremely rare, and all defects add up together to produce gross neurological deficit. We present an interesting case of a 23-year-old male who presented with history of lower backache and noticed wasting and weakness of lower limbs associated with difficulty in walking for the last 2 years but had no associated sphincter disturbances...
January 2017: Journal of Pediatric Neurosciences
https://www.readbyqxmd.com/read/28410903/l-ut%C3%A3-rus-unicorne-et-le-syndrome-de-klippel-feil
#19
Areiyu Zhang
No abstract text is available yet for this article.
April 11, 2017: Journal of Obstetrics and Gynaecology Canada: JOGC, Journal D'obstétrique et Gynécologie du Canada: JOGC
https://www.readbyqxmd.com/read/28410901/unicornuate-uterus-in-klippel-feil-syndrome
#20
Areiyu Zhang, Luz Arbelaez
No abstract text is available yet for this article.
April 11, 2017: Journal of Obstetrics and Gynaecology Canada: JOGC, Journal D'obstétrique et Gynécologie du Canada: JOGC
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