1,131 results match your criteria Klippel-Feil Syndrome


Simultaneous Midface Advancement and Orthognathic Surgery: A Powerful Technique for Managing Midface Hypoplasia and Malocclusion.

Plast Reconstr Surg 2020 Jun;145(6):1067e-1072e

Los Angeles, Calif. From the Division of Plastic and Reconstructive Surgery, Keck School of Medicine, University of Southern California; and the Division of Plastic and Maxillofacial Surgery, Children's Hospital of Los Angeles.

Background: Midface hypoplasia dramatically affects the normative facial cascade. Simultaneous Le Fort III and Le Fort I procedures (Le Fort III/I) provide a powerful tool for achieving significant midface advancement. This study presents the authors' approach for addressing midface hypoplasia in the setting of class III malocclusion using Le Fort III/I advancement. Read More

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http://dx.doi.org/10.1097/PRS.0000000000006816DOI Listing

Cervical Abnormalities in Severe Spinal Deformity: A 10-year MRI Review.

Orthop Surg 2020 Apr 29. Epub 2020 Apr 29.

Department of Orthopaedics, The 2nd Affiliated Hospital of Kunming Medical University, Kunming, China.

Objective: To investigate the incidence of cervical anomalies (CA), including cervical intraspinal neural axis abnormalities (CIINAA) and/or cervical osseous abnormalities (COA), and the clinical relevance in severe spinal deformities (SSD) at a single center.

Methods: A retrospective study of SSD admitted for spinal surgery from January 2003 to January 2015 was conducted at a single center.

Inclusion Criteria: patients who present with coronal Cobb over 90° (and/or sagittal cobb ≥90°); and patients with complete imaging and clinical data preoperatively. Read More

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http://dx.doi.org/10.1111/os.12673DOI Listing

Klippel-Feil Syndrome with Cervical Diastematomyelia in an Adult with Extensive Cervicothoracic Fusions: Case Report and Review of the Literature.

World Neurosurg 2020 Apr 25;139:274-280. Epub 2020 Apr 25.

Duke University School of Medicine, Durham, North Carolina, U.S.A; Division of Spine, Department of Neurosurgery, Duke University Medical Center, Durham, North Carolina, U.S.A.

Split cord malformation (SCM) is a developmental disorder that is usually symptomatic and diagnosed in childhood. The majority of these lesions are in the thoracic and lumbar spine, with only 1%-3% of cases found in the cervical spine. This is a case report of a 55-year-old female patient with an unremarkable medical history who presented with neck pain. Read More

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http://dx.doi.org/10.1016/j.wneu.2020.04.148DOI Listing

Occipital Plate Fixation in the Pediatric Population.

J Pediatr Orthop 2020 Apr 14. Epub 2020 Apr 14.

Department of Orthopaedic Surgery, Boston Children's Hospital, Boston, MA.

Background: Occipital plate fixation has been shown to improve outcomes in cervical spine fusion. There is a paucity of literature describing occipital plate fixation, especially in the pediatric population. The authors reviewed a case series of 34 patients at a pediatric hospital who underwent cervical spine fusion with occipital plate fixation between 2003 and 2016. Read More

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http://dx.doi.org/10.1097/BPO.0000000000001564DOI Listing

The mutational burden and oligogenic inheritance in Klippel-Feil syndrome.

BMC Musculoskelet Disord 2020 Apr 11;21(1):220. Epub 2020 Apr 11.

Department of Orthopedic Surgery, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, 100730, China.

Background: Klippel-Feil syndrome (KFS) represents a rare anomaly characterized by congenital fusion of the cervical vertebrae. The underlying molecular etiology remains largely unknown because of the genetic and phenotypic heterogeneity.

Methods: We consecutively recruited a Chinese cohort of 37 patients with KFS. Read More

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http://dx.doi.org/10.1186/s12891-020-03229-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7149842PMC

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

Am J Med Genet A 2020 Jun 25;182(6):1466-1472. Epub 2020 Mar 25.

Centre de génétique humaine, Université de Franche Comté, Besançon, France.

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. Read More

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http://dx.doi.org/10.1002/ajmg.a.61549DOI Listing

A novel pathogenic variant in MYO18B associating early-onset muscular hypotonia, and characteristic dysmorphic features, delineation of the phenotypic spectrum of MYO18B-related conditions.

Gene 2020 Jun 14;742:144542. Epub 2020 Mar 14.

Institute of Human Genetics, Technical University of Munich, Munich, Germany; Institute of Neurogenomics, Helmholtz Zentrum Munich, Neuherberg, Germany.

Homozygous loss-of-function variants in MYO18B have been associated with congenital myopathy, facial dysmorphism and Klippel-Feil anomaly. So far, only four patients have been reported. Comprehensive description of new cases that help to highlight recurrent features and to further delineate the phenotypic spectrum are still missing. Read More

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http://dx.doi.org/10.1016/j.gene.2020.144542DOI Listing

Letter to the Editor. Klippel-Feil syndrome.

Authors:
Atul Goel

J Neurosurg Spine 2020 Feb 28:1-2. Epub 2020 Feb 28.

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http://dx.doi.org/10.3171/2019.12.SPINE191538DOI Listing
February 2020

A New Method for Assessment of Upright Posture Intolerance.

Authors:
Adnan I Qureshi

J Vasc Interv Neurol 2020 Jan;11(1):42-45

Zeenat Qureshi Stroke Institute, St. Cloud, MN, USA.

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 support? (2) Do you feel any sense of sickness when you sit or lie down after standing? (3) How long do you have to wait before you are comfortable standing again after you have stood straight? (4) How effectively and fast can you get up from sitting or lying position to stand straight? and (5) rate the ability to perform activities on a standard vertical visual analog scale between 100 (can do everything) and 0 (cannot do anything). We tested the ability of the questionnaire in four patients to identify various aspects of upright posture intolerance. Read More

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6998804PMC
January 2020

Cord injury after spinal anaesthesia in a patient with previously undiagnosed Klippel-Feil syndrome.

Anaesth Rep 2019 Jan-Jun;7(1):7-10. Epub 2019 Mar 11.

Department of Anaesthetics East and North Hertfordshire NHS Trust Stevenage United Kingdom.

This report presents an obstetric patient with no significant past medical history who underwent spinal anaesthesia for a category-three caesarean section. On examination, she had asymmetrical scapular alignment and a mild scoliosis of the lumbar spine with no functional limitation. Postoperatively the patient developed neuropathic pain symptoms in the right leg which failed to resolve with conventional analgesia. Read More

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http://dx.doi.org/10.1002/anr3.12001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6931306PMC

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

World Neurosurg 2020 Apr 10;136:62-65. Epub 2020 Jan 10.

Department of Physical Medicine and Rehabilitation, Harran University, Sanliurfa, Turkey.

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, oral, and laryngeal abnormalities; structural abnormalities of the urinary system; and congenital heart diseases. However, bilateral omovertebra and bilateral multilevel cervical ribs have not been reported. Read More

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http://dx.doi.org/10.1016/j.wneu.2020.01.010DOI Listing

Klippel Feil Syndrome: Clinical Phenotypes Associated With Surgical Treatment.

Spine (Phila Pa 1976) 2020 Jun;45(11):718-726

Department of Surgery, Division of Neurosurgery, University of Toronto, Toronto, Ontario, Canada.

Study Design: Retrospective study.

Objective: To define distinct Klippel-Feil syndrome (KFS) patient phenotypes that are associated with the need for surgical intervention.

Summary Of Background Data: KFS is characterized by the congenital fusion of cervical vertebrae; however, patients often present with a variety of other spinal and extraspinal anomalies suggesting this syndrome encompasses a heterogeneous patient population. Read More

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http://dx.doi.org/10.1097/BRS.0000000000003368DOI Listing

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

J Neurosurg Spine 2019 Dec 13:1-6. Epub 2019 Dec 13.

3Department of Neurosurgery, Geneva University Hospitals, Geneva, Switzerland; and.

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 of pain in patients with KFS. Read More

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http://dx.doi.org/10.3171/2019.9.SPINE19820DOI Listing
December 2019

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].

Eur Spine J 2020 Feb 26;29(2):384. Epub 2019 Nov 26.

Department of Anesthesiology, The Affiliated Hospital of Guizhou Medical University, No. 28 Guiyi Street, Yunyan District, 550004, Guiyang, China.

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http://dx.doi.org/10.1007/s00586-019-06228-2DOI Listing
February 2020

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

J Craniovertebr Junction Spine 2019 Jul-Sep;10(3):133-138

Department of Orthopaedic Surgery, NYU Langone Orthopedic Hospital, Brooklyn, NY, USA.

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 Inpatient Database (KID) for KFSpatients aged 0-20 years from 2003 to 2012. Read More

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http://dx.doi.org/10.4103/jcvjs.JCVJS_65_19DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6868534PMC
November 2019

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.

J Dent Anesth Pain Med 2019 Oct 30;19(5):307-312. Epub 2019 Oct 30.

Department of Anaesthesiology, Saveetha Medical College and Hospital, Chennai, India.

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 with an anterior open bite. He was treated with orthodontic treatment and maxillofacial surgery. Read More

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http://dx.doi.org/10.17245/jdapm.2019.19.5.307DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6834714PMC
October 2019
6 Reads

Klippel-Feil syndrome: a review of the literature.

Authors:
Rim Frikha

Clin Dysmorphol 2020 Jan;29(1):35-37

Faculty of Medicine of Sfax, University of Sfax, Tunisia.

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. Read More

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http://Insights.ovid.com/crossref?an=00019605-900000000-9949
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http://dx.doi.org/10.1097/MCD.0000000000000301DOI Listing
January 2020
7 Reads
0.416 Impact Factor

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

World Neurosurg 2020 Jan 27;133:90-96. Epub 2019 Sep 27.

Department of Neurological Surgery, University of Miami Miller School of Medicine, Miami, Florida, USA.

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 cases of proximal ASD presenting as retroodontoid pseudotumors following posterior fusion to C2, both in middle-aged females without history of rheumatologic disease. Read More

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http://dx.doi.org/10.1016/j.wneu.2019.09.113DOI Listing
January 2020

Klippel-Feil Syndrome with Sprengel Deformity.

J Radiol Case Rep 2019 May 31;13(5):24-29. Epub 2019 May 31.

Department of Diagnostic Imaging, University Hospital St. Ekaterina, Medical University of Sofia, Sofia, Bulgaria.

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 details the role of this imaging modality in the evaluation of such complex cases. Read More

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http://dx.doi.org/10.3941/jrcr.v13i5.3565DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6742447PMC

Imaging of Thoracic Wall Abnormalities.

Korean J Radiol 2019 Oct;20(10):1441-1453

Department of Radiology, Jewish General Hospital, Montreal, Canada.

Identification of certain abnormalities of the chest wall can be extremely helpful in correctly diagnosing a number of syndromic conditions and systemic diseases. Additionally, chest wall abnormalities may sometimes constitute diagnoses by themselves. In the present pictorial essay, we review a number of such conditions and provide illustrative cases that were retrospectively identified from our clinical imaging database. Read More

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http://dx.doi.org/10.3348/kjr.2019.0181DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6757005PMC
October 2019
3 Reads
1.807 Impact Factor

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

Surg Radiol Anat 2020 Apr 17;42(4):411-415. Epub 2019 Sep 17.

Department of Radiology, University of Iowa Hospital and Clinics, Iowa City, IA, USA.

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 cavity. Intrathoracic carotid bifurcation is a rare variation with limited number of cases reported. Read More

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http://link.springer.com/10.1007/s00276-019-02338-0
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http://dx.doi.org/10.1007/s00276-019-02338-0DOI Listing
April 2020
3 Reads

Butterfly Vertebrae: A Systematic Review of the Literature and Analysis.

Global Spine J 2019 Sep 18;9(6):666-679. Epub 2018 Sep 18.

Hospital for Special Surgery, New York, NY, USA.

Study Design: Systematic review (Level 4).

Objective: To summarize the demographics, clinical presentations, and conditions associated with butterfly vertebrae.

Methods: A systematic search was performed of multiple databases. Read More

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http://dx.doi.org/10.1177/2192568218801016DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6693069PMC
September 2019
4 Reads

Comprehensive analysis of syndromic hearing loss patients in Japan.

Sci Rep 2019 08 19;9(1):11976. Epub 2019 Aug 19.

Department of Otorhinolaryngology, Shinshu University School of Medicine, Matsumoto, Japan.

More than 400 syndromes associated with hearing loss and other symptoms have been described, corresponding to 30% of cases of hereditary hearing loss. In this study we aimed to clarify the mutation spectrum of syndromic hearing loss patients in Japan by using next-generation sequencing analysis with a multiple syndromic targeted resequencing panel (36 target genes). We analyzed single nucleotide variants, small insertions, deletions and copy number variations in the target genes. Read More

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http://dx.doi.org/10.1038/s41598-019-47141-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6700179PMC
August 2019
10 Reads

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

Am J Surg Pathol 2020 01;44(1):68-76

Department of Pathology, Weill Cornell Medicine, New York, NY.

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. Read More

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http://dx.doi.org/10.1097/PAS.0000000000001340DOI Listing
January 2020
2 Reads

Incidence of Congenital Spinal Abnormalities Among Pediatric Patients and Their Association With Scoliosis and Systemic Anomalies.

J Pediatr Orthop 2019 Sep;39(8):e608-e613

Department of Orthopaedic Surgery, NYU Langone Medical Center Hospital for Joint Diseases.

Background: Congenital abnormalities when present, according to VACTERL theory, occur nonrandomly with other congenital anomalies. This study estimates the prevalence of congenital spinal anomalies, and their concurrence with other systemic anomalies.

Methods: A retrospective cohort analysis on Health care Cost and Utilization Project's Kids Inpatient Database (KID), years 2000, 2003, 2006, 2009 was performed. Read More

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http://dx.doi.org/10.1097/BPO.0000000000001066DOI Listing
September 2019
3 Reads
1.426 Impact Factor

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

Eur Spine J 2019 Oct 30;28(10):2257-2265. Epub 2019 Jul 30.

Department of Neurosurgery, University of Cincinnati College of Medicine, Cincinnati, USA.

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. Read More

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http://dx.doi.org/10.1007/s00586-019-06084-0DOI Listing
October 2019
5 Reads

Developmental anomalies and South American paleopathology: A comparison of block vertebrae and co-occurring axial anomalies among three skeletal samples from the El Brujo archaeological complex of northern coastal Peru.

Authors:
Anne R Titelbaum

Int J Paleopathol 2019 Jul 25. Epub 2019 Jul 25.

Basic Medical Sciences, University of Arizona College of Medicine - Phoenix, Phoenix, AZ 85004, USA. Electronic address:

Though developmental anomalies have been noted for over a century in South American paleopathology, they have received less attention than other pathological conditions. When anomalies are reported, they tend to be unusual case studies or incidental findings. Paleopathological research should also consider anomalies from a population perspective, to broaden our understanding about the frequency of specific anomalies, and potentially offer insight into genetic relationships, cultural behavior, or environmental factors. Read More

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http://dx.doi.org/10.1016/j.ijpp.2019.07.001DOI Listing
July 2019
4 Reads

Endoscopic Endonasal Approach for Urgent Decompression of Craniovertebral Junction in Syringobulbia.

World Neurosurg 2019 Oct 9;130:499-505. Epub 2019 Jul 9.

Division of Neurosurgery, Department of Neurosciences, University of Torino, Turin, Italy.

Background: Syringobulbia is an uncommon lesion that occurs in the central nervous system; it is often defined as a pathologic cavitation in the brainstem. The cases with partial blockage of the cerebrospinal fluid pathways at the level of the foramen magnum are more common and the most important group. The most common treatment of syringobulbia is craniovertebral decompression. Read More

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http://dx.doi.org/10.1016/j.wneu.2019.07.004DOI Listing
October 2019
2 Reads

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

Echocardiography 2019 08 27;36(8):1586-1589. Epub 2019 Jun 27.

Leon H. Charney Division of Cardiology, NYU Langone Health, New York, New York.

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 and borderline left ventricular ejection fraction. Although various cardiac anomalies have been described in KPS, otherwise unexplained severe aortic regurgitation has not been previously reported to the best of our knowledge. Read More

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http://dx.doi.org/10.1111/echo.14417DOI Listing
August 2019
9 Reads
1.254 Impact Factor

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

Rheumatol Int 2019 Sep 18;39(9):1655-1660. Epub 2019 Jun 18.

School of Medicine, University of Zagreb, Šalata 3, 10000, Zagreb, Croatia.

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 commonly shared features of SpAs. Klippel-Feil syndrome (KFS) is a rare congenital disorder characterized by the fusion of one or more cervical vertebrae, accompanied by various skeletal and extra-skeletal anomalies. Read More

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http://dx.doi.org/10.1007/s00296-019-04346-0DOI Listing
September 2019
16 Reads

Expanding the clinical history associated with syndromic Klippel-Feil: A unique case of comorbidity with medulloblastoma.

Eur J Med Genet 2019 Aug 10;62(8):103701. Epub 2019 Jun 10.

Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, OH, USA; Department of Pediatrics, The Ohio State University College of Medicine, Columbus, OH, USA; Department of Pathology, The Ohio State University College of Medicine, Columbus, OH, USA.

Klippel-Feil syndrome (KFS) is an exceedingly rare constitutional disorder in which a paucity of knowledge exists about the disease and its associated morbidity and mortality. We present a 4-year-old male with KFS, who notably was also diagnosed with large-cell anaplastic medulloblastoma. We evaluated the genetic basis of co-occurring KFS and medulloblastoma and the role of MYO18B as related to medulloblastoma. Read More

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http://dx.doi.org/10.1016/j.ejmg.2019.103701DOI Listing
August 2019
9 Reads
1.486 Impact Factor

[Teenagers with torticollis].

Ned Tijdschr Geneeskd 2019 05 3;163. Epub 2019 May 3.

UMC Utrecht, afd. Orthopedie, Utrecht.

Teenagers with torticollis In this article we describe three cases of children with torticollis. A 17-year-old patient who appears to have Klippel-Feil syndrome and is treated conservatively. An 11-year-old-patient with torticollis, present since a fall two days earlier and attributed to a subluxation of C1-C2. Read More

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May 2019
7 Reads

Anorectal Malformation Associated with Klippel-Feil Syndrome: A Rare Association.

J Indian Assoc Pediatr Surg 2019 Apr-Jun;24(2):135-137

Department of Pediatric Surgery, King George's Medical University, Lucknow, Uttar Pradesh, India.

Anorectal malformations (ARMs) are a complex group of malformations associated with various congenital anomalies. Klippel-Feil syndrome (KFS) is characterized by fusion of cervical vertebrae, short neck, torticollis, and/or facial asymmetry and very rarely associated with ARM. In the presence of cervical vertebral anomalies in ARM, one should search for the presence of KFS as an association. Read More

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http://dx.doi.org/10.4103/jiaps.JIAPS_161_17DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6417053PMC
May 2019
17 Reads

Basilar invagination in a child with atlanto-occipital subluxation and suspected prenatal Dandy-Walker malformation.

Childs Nerv Syst 2019 08 17;35(8):1429-1434. Epub 2019 May 17.

Department of Neurosurgery, Tokyo Women's Medical University, 8-1 Kawada-cho Shinjuku-ku, Tokyo, 162-8666, Japan.

Background And Purpose: Although advances in imaging have allowed earlier and more accurate diagnosis of various fetal anomalies, Dandy-Walker malformation (DWM) remains one of the more challenging central nervous system anomalies to diagnose accurately before birth. Basilar invagination (BI), which is a dislocation of the dens in an upward direction, is occasionally accompanied by Klippel-Feil syndrome (KFS). We report a pediatric case of BI caused by atlanto-occipital subluxation (AOS) in KFS, suspected of having DWM prenatally but head magnetic resonance images (MRI) showed no evidence of that at 7 months of age. Read More

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http://dx.doi.org/10.1007/s00381-019-04164-6DOI Listing
August 2019
12 Reads

[Klippel-Feil autosomal dominant syndrome: A malformation of vertebral segmentation].

Rev Chil Pediatr 2019 Apr;90(2):194-201

Hospital Provincial General "Luis G. Dávila", Tulcán, Ecuador.

Introduction: Klippel-Feil syndrome is a highly heterogeneous complex skeletal disorder characterized by the con genital fusion of two or more cervical vertebrae. The classic clinical triad consists of a short neck, low hairline, and neck movements limitation. The associated mutations are located in the loci of the GDF3 gene (chromosome 12p13. Read More

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http://www.revistachilenadepediatria.cl/index.php/rchped/art
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http://dx.doi.org/10.32641/rchped.v90i2.779DOI Listing
April 2019
9 Reads

[Torticollis in children].

Authors:
M Götze S Hagmann

Orthopade 2019 Jun;48(6):503-507

Klinik für Orthopädie & Unfallchirurgie, Sektion Kinderorthopädie, Neuroorthopädie & Fußchirurgie, Universitätsklinikum Heidelberg, Schlierbacher Landstr. 200a, 69118, Heidelberg, Deutschland.

Background: Torticollis is a common neck deformity in both newborn and older children. The various causes of the abnormal posturing of the head differ in severity, long-term consequences and their treatment.

Methods: This article gives an overview of the differential diagnoses of torticollis in children and current literature, and provides insight into our diagnostic and therapeutic algorithm. Read More

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http://dx.doi.org/10.1007/s00132-019-03740-7DOI Listing
June 2019
6 Reads

Cervical vertebral malformations in 9 dogs: radiological findings, treatment options and outcomes.

Ir Vet J 2019 23;72. Epub 2019 Apr 23.

Fitzpatrick Referrals, Halfway Lane, Eashing, Godalming, GU7 2QQ UK.

Background: Disregarding atlantoaxial instability in toy breed dogs associated with dens malformation and cervical spondylomyelopathy; cervical vertebral malformations are rare and poorly characterised in veterinary medicine and consequently treatment strategies and clinical outcome are sparsely documented.

Results: Electronic clinical records at our veterinary referral hospital between April 2009 and November 2018 were searched for patients presented with cervical myelopathy secondary to an underlying suspected vertebral malformation/instability. Nine dogs met the inclusion criteria. Read More

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https://irishvetjournal.biomedcentral.com/articles/10.1186/s
Publisher Site
http://dx.doi.org/10.1186/s13620-019-0141-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6480486PMC
April 2019
15 Reads

The prevalence of Klippel-Feil syndrome in pediatric patients: analysis of 831 CT scans.

J Spine Surg 2019 Mar;5(1):66-71

University of Rochester Medical Center, Rochester, NY, USA.

Background: To evaluate the prevalence of Klippel-Feil syndrome (KFS) in pediatric patients obtaining cervical CT imaging in the emergency room (ER).

Methods: We evaluated CT scans of the cervical spine of pediatric patients treated in the ER of a Level I Trauma Center from January 2013 to December 2015. Along with analysis of the CT scans for KFS, the following demographics were collected: age, sex, race and ethnicity. Read More

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http://jss.amegroups.com/article/view/4457/4883
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http://dx.doi.org/10.21037/jss.2019.01.02DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6465471PMC
March 2019
18 Reads

Klippel-Feil syndrom: a duplicated thumb.

Pan Afr Med J 2018;31:42. Epub 2018 Sep 20.

Department of Otorhinolaryngology, Head and Neck Surgery, Berlin Institute of Health, Charité Universitätsmedizin Berlin, Campus Benjamin Franklin, Berlin, Germany.

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http://dx.doi.org/10.11604/pamj.2018.31.42.16327DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6430944PMC
April 2019
5 Reads

Klippel-Feil syndrome accompanied by partial cleft of the cervical spine: a not-so-unusual combination?

Radiol Bras 2019 Jan-Feb;52(1):65-66

Hospital de Clínicas da Universidade Federal do Paraná (UFPR), Curitiba, PR, Brazil.

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http://dx.doi.org/10.1590/0100-3984.2017.0123DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6383534PMC
February 2019
6 Reads

Klippel-Feil syndrome as a novel feature of Schimke immunoosseous dysplasia.

Am J Med Genet A 2019 05 19;179(5):862-863. Epub 2019 Feb 19.

Department of Paediatrics, Midland Regional Hospital, Mullingar, County Westmeath, Ireland.

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http://dx.doi.org/10.1002/ajmg.a.61087DOI Listing
May 2019
7 Reads

Performing the screw fixation from C3 to odontoid process in a patient with Klippel-Feil syndrome and type II odontoid fracture.

J Craniovertebr Junction Spine 2018 Oct-Dec;9(4):277-279

Department of Neurosurgery, Faculty of Medicine, Kirikkale University, Kirikkale, Turkey.

A 56-year-old female patient was admitted with a history of pain during neck movements after cervical injury. Computerized tomography scan revealed type II odontoid fracture and fusion anomaly between C2 and C3 vertebrae. At surgery, the anteroinferior part of C2 vertebra corpus could not be reached; therefore, transodontoid screw was advanced from C3 vertebra toward odontoid process. Read More

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http://dx.doi.org/10.4103/jcvjs.JCVJS_54_18DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6364369PMC
February 2019
4 Reads

Congenital deformation of the posterior arch of the atlas: Subluxation of the atlanto-axial joint with temporary quadriplegia.

SAGE Open Med Case Rep 2019 11;7:2050313X18823387. Epub 2019 Jan 11.

Department of Trauma, Hand and Reconstructive Surgery, University Hospital Hamburg-Eppendorf, Hamburg, Germany.

Instabilities of the craniocervical junction can be of rheumatic, traumatic, or congenital origin. The reported patient has a congenital malformation of the cervical spine, which is frequently observed in patients with Klippel-Feil syndrome. Her posterior arch of the atlas (C1) is hypoplastic and a chronic subluxation of the atlanto-axial joint would be possible. Read More

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http://journals.sagepub.com/doi/10.1177/2050313X18823387
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http://dx.doi.org/10.1177/2050313X18823387DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6349990PMC
January 2019
8 Reads

Association of Klippel-Feil syndrome, Dandy-Walker malformation, spina bifida: A case report.

Radiol Case Rep 2019 Mar 15;14(3):415-418. Epub 2019 Jan 15.

Department of Biomedical Sciences, University of Sassari, Sassari, Italy.

Klippel-Feil syndrome is a congenital malformation characterized by the fusion of at least 2 cervical vertebrae. It may occur in association with other clinical syndromes and disorders. We describe a case of prenatal diagnosis of a Klippel-Feil syndrome with Dandy-Walker malformation, and spina bifida, proved by ultrasound examination. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S19300433183056
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http://dx.doi.org/10.1016/j.radcr.2018.12.012DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6348729PMC
March 2019
13 Reads

Rare Hereditary Klippel-Feil Syndrome and Arnold-Chiari Malformation Caused by Cervical Spondylotic Myelopathy.

World Neurosurg 2019 05 3;125:126-128. Epub 2019 Jan 3.

Department of Spinal Surgery, Honghui Hospital Affiliated to Xi'an Jiaotong University College of Medicine, Xi'an, China; Department of Spinal Surgery, Honghui Hospital Affiliated to Xi'an Medical University, Xi'an, China. Electronic address:

Background: A rare case of familial genetic disorder Klippel-Feil syndrome and Arnold-Chiari malformation caused by cervical spondylotic myelopathy was reported here.

Case Description: The reconstruction of stability and spinal cord decompression was achieved by anterior cervical discectomy, fusion, and internal fixation.

Conclusions: Although the disease genetic characteristics have been studied, operation is necessary when it leads to abnormal neurologic symptoms and the surgery of surgery can have a beneficial outcome. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S18788750183292
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http://dx.doi.org/10.1016/j.wneu.2018.12.101DOI Listing
May 2019
10 Reads

Chiari Malformations.

Acta Neurochir Suppl 2019;125:89-95

Department of Neurology and Psychiatry, Division of Neurosurgery, "Sapienza" University of Rome, Rome, Italy.

Background: Chiari malformations (CM) represent a group of anomalies characterized by descent of the cerebellar tonsils or vermis into the cervical spinal canal. These malformations can be associated with abnormalities such as hydrocephalus, spina bifida, hydromyelia, syringomyelia, curvature of the spine (kyphosis and scoliosis) and tethered cord syndrome. Hereditary syndromes and other disorders that affect growth and bone formation-such as craniosynostosis, Ehlers-Danlos syndromes and Klippel-Feil syndrome-can also be associated with CM. Read More

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http://link.springer.com/10.1007/978-3-319-62515-7_13
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http://dx.doi.org/10.1007/978-3-319-62515-7_13DOI Listing
August 2019
36 Reads

A Novel 12q13.2-q13.3 Microdeletion Syndrome With Combined Features of Diamond Blackfan Anemia, Pierre Robin Sequence and Klippel Feil Deformity.

Front Genet 2018 19;9:549. Epub 2018 Nov 19.

Department of Woman, Child and General and Specialized Surgery, University of Campania "L. Vanvitelli" Naples, Italy.

Diamond-Blackfan anemia (DBA) is a rare congenital erythroid aplasia with a highly heterogeneous genetic background; it usually occurs in infancy. Approximately 30-40% of patients have other associated congenital anomalies; in particular, facial anomalies, such as cleft palate, are part of about 10% of the DBA clinical presentations. Pierre Robin sequence (PRS) is a heterogeneous condition, defined by the presence of the triad of glossoptosis, micrognathia and cleft palate; it occurs in 1/8500 to 1/14,000 births. Read More

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http://dx.doi.org/10.3389/fgene.2018.00549DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6262175PMC
November 2018
18 Reads