Research & Literature

Prevalence of Klippel-Feil Syndrome in a Surgical Series of Patients with Cervical Spondylotic Myelopathy: Analysis of the Prospective, Multicenter AOSpine North America Study.

Nouri A, Tetreault L, Zamorano JJ, et al.

Global spine journal 2015; (5(4)):294-9 doi:10.1055/s-0035-1546817.

Rare variants in the notch signaling pathway describe a novel type of autosomal recessive Klippel-Feil syndrome.

Karaca E, Yuregir OO, Bozdogan ST, et al.

American journal of medical genetics. Part A 2015; (167A(11)):2795-9 doi:10.1002/ajmg.a.37263.

[RESEARCH PROGRESS OF KLIPPEL-FEIL SYNDROME WITH EAR MALFORMATION].

Yang J, He L

Zhongguo xiu fu chong jian wai ke za zhi = Zhongguo xiufu chongjian waike zazhi = Chinese journal of reparative and reconstructive surgery 2015; (29(11)):1434-40.

[A Patient with Klippel-Feil Syndrome Having Difficulties in Inserting and Placing an Endotracheal Tube under General Anesthesia].

Hashidume Y, Tachibana S, Takada Y, et al.

Masui. The Japanese journal of anesthesiology 2016; (65(4)):373-6.

Klippel - Feil Syndrome Associated with Congential Heart Disease Presentaion of Cases and a Review of the Curent Literature.

Bejiqi R, Retkoceri R, Bejiqi H, Zeka N

Open access Macedonian journal of medical sciences 2015; (3(1)):129-34 doi:10.3889/oamjms.2015.022.

Klippel Feil Syndrome: A Rare Case Report.

Agarwal AK, Goel M, Bajpai J, et al.

Journal of orthopaedic case reports 2014; (4(3)):53-5 doi:10.13107/jocr.2250-0685.197.

Congenital Cervical Fusion as a Risk Factor for Development of Degenerative Cervical Myelopathy.

Nouri A, Martin AR, Lange SF, et al.

World neurosurgery 2017; (100()):531-539 doi:10.1016/j.wneu.2017.01.048.

Otolaryngologic Manifestations of Klippel-Feil Syndrome in Children.

Kenna MA, Irace AL, Strychowsky JE, et al.

JAMA otolaryngology-- head & neck surgery 2018; (144(3)):238-243 doi:10.1001/jamaoto.2017.2917.

Klippel-Feil Syndrome with Sprengel Deformity and Extensive Upper Extremity Deformity: A Case Report and Literature Review.

Stelzer JW, Flores MA, Mohammad W, et al.

Case reports in orthopedics 2018; (2018()):5796730 doi:10.1155/2018/5796730.

Anesthetic Management for Twice in a Child with Klippel-Feil Syndrome.

Hitosugi T, Tsukamoto M, Yokoyama T

Masui. The Japanese journal of anesthesiology 2017; (66(5)):554-557.

"Sandwich Deformity" in Klippel-Feil syndrome: A "Full-Spectrum" presentation of associated craniovertebral junction abnormalities.

Tian Y, Fan D, Xu N, Wang S

Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia 2018; (53()):247-249 doi:10.1016/j.jocn.2018.04.047.

The Prevalence of Klippel-Feil Syndrome: A Computed Tomography-Based Analysis of 2,917 Patients.

Gruber J, Saleh A, Bakhsh W, et al.

Spine deformity 2018; (6(4)):448-453 doi:10.1016/j.jspd.2017.12.002.

Dexmedetomidine in difficult airway management with a fibre-optic bronchoscope in the awake patient with Klippel-Feil Syndrome.

Pacreu S, Martínez S, Vilà E, et al.

Revista espanola de anestesiologia y reanimacion 2018; (65(9)):537-540 doi:10.1016/j.redar.2018.05.003.

Skeletal malformations of Meox1-deficient zebrafish resemble human Klippel-Feil syndrome.

Dauer MVP, Currie PD, Berger J

Journal of anatomy 2018; (233(6)):687-695 doi:10.1111/joa.12890.

Wasp waist sign: Congenital vertebral fusion.

Ridley LJ, Han J, Ridley WE, Xiang H

Journal of medical imaging and radiation oncology 2018; (62 Suppl 1()):166-167 doi:10.1111/1754-9485.36_12786.

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

Xinyu G, Na Z, Dingjun H

World neurosurgery 2019; (125()):126-128 doi:10.1016/j.wneu.2018.12.101.

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

Moses JT, Williams DM, Rubery PT, Mesfin A

Journal of spine surgery (Hong Kong) 2019; (5(1)):66-71 doi:10.21037/jss.2019.01.02.

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

Guapi Nauñay VH, Martínez Carvajal IA

Revista chilena de pediatria 2019; (90(2)):194-201 doi:10.32641/rchped.v90i2.779.

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

Singh G, Gupta A, Verma AK, et al.

Journal of Indian Association of Pediatric Surgeons 2019; (24(2)):135-137 doi:10.4103/jiaps.JIAPS_161_17.

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

Nouri A, Patel K, Evans H, et al.

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 doi:10.1007/s00586-019-06084-0.

Klippel-Feil Syndrome with Sprengel Deformity.

Georgiev GP, Groudeva V

Journal of radiology case reports 2019; (13(5)):24-29 doi:10.3941/jrcr.v13i5.3565.

Klippel-Feil syndrome: a review of the literature.

Frikha R

Clinical dysmorphology 2020; (29(1)):35-37 doi:10.1097/MCD.0000000000000301.

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

Zhou PL, Poorman GW, Wang C, et al.

Journal of craniovertebral junction & spine 2019; (10(3)):133-138 doi:10.4103/jcvjs.JCVJS_65_19.

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

Patel K, Evans H, Sommaruga S, et al.

Journal of neurosurgery. Spine 2020; (32(4)):578-583 doi:10.3171/2019.9.SPINE19820.

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

Satış S, Alparslan N, Tuna M, et al.

World neurosurgery 2020; (136()):62-65 doi:10.1016/j.wneu.2020.01.010.

Sleep endoscopy-directed management of Arnold-Chiari malformation: a child with persistent obstructive sleep apnea.

Katwa U, Sisniega C, McKeon M, Lee GS

Journal of clinical sleep medicine : JCSM : official publication of the American Academy of Sleep Medicine 2020; (16(2)):325-329 doi:10.5664/jcsm.8194.

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

Brunet T, Westphal DS, Weber S, et al.

Gene 2020; (742()):144542 doi:10.1016/j.gene.2020.144542.

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

Li Z, Zhao S, Cai S, et al.

BMC musculoskeletal disorders 2020; (21(1)):220 doi:10.1186/s12891-020-03229-x.

Two-level cervical disc arthroplasty in patients with Klippel-Feil syndrome: A case report and review of the literature.

Ryu RC, Behrens PH, Burkert BA, et al.

Surgical neurology international 2020; (11()):322 doi:10.25259/SNI_587_2020.

Further delineation of MYO18B-related autosomal recessive Klippel-Feil syndrome with myopathy and facial dysmorphism.

Altuame FD, Haldeman-Englert C, Cupler E, et al.

American journal of medical genetics. Part A 2021; (185(2)):370-376 doi:10.1002/ajmg.a.61957.

[Clinical Characteristics and Genetic Analysis of Klippel-Feil Syndrome].

Li ZQ, Geng MZ, Zhao S, et al.

Zhongguo yi xue ke xue yuan xue bao. Acta Academiae Medicinae Sinicae 2021; (43(1)):25-31 doi:10.3881/j.issn.1000-503X.12629.

Images in Spine: A Rare Abnormal Bony Fusion.

Mahajan UV, Labak KB, Labak CM, et al.

Cureus 2021; (13(3)):e13719 doi:10.7759/cureus.13719.

Klippel-Feil Syndrome: Pathogenesis, Diagnosis, and Management.

Litrenta J, Bi AS, Dryer JW

The Journal of the American Academy of Orthopaedic Surgeons 2021; (29(22)):951-960 doi:10.5435/JAAOS-D-21-00190.

Impact of adjacent pre-existing disc degeneration status on its biomechanics after single-level anterior cervical interbody fusion.

Li XF, Lv ZD, Yin HL, Song XX

Computer methods and programs in biomedicine 2021; (209()):106355 doi:10.1016/j.cmpb.2021.106355.

Atlantoaxial Rotatory Fixation after Microtia Reconstruction Surgery.

Takada G, Asato H, Umekawa K, et al.

Plastic and reconstructive surgery. Global open 2021; (9(8)):e3760 doi:10.1097/GOX.0000000000003760.

Cervical disc arthroplasty for Klippel-Feil syndrome.

Lee CY, Wu CL, Chang HK, et al.

Clinical neurology and neurosurgery 2021; (209()):106934 doi:10.1016/j.clineuro.2021.106934.

Health Care Transition From Pediatric- to Adult-Focused Care in X-linked Hypophosphatemia: Expert Consensus.

Dahir K, Dhaliwal R, Simmons J, et al.

The Journal of clinical endocrinology and metabolism 2022; (107(3)):599-613 doi:10.1210/clinem/dgab796.

Cervical myelopathy in a patient with Klippel-Feil syndrome treated with a patient-specific custom cervical spine locking plate.

Jackson TJ, Freedman BA, Morris JM, et al.

Spinal cord series and cases 2022; (8(1)):6 doi:10.1038/s41394-022-00478-x.

Klippel-Feil Syndrome: Clinical Presentation and Management.

Jae-Min Park A, Nelson SE, Mesfin A

JBJS reviews 2022; (10(2)) doi:10.2106/JBJS.RVW.21.00166.

A case of ischemic stroke accompanied by multiple arterial dissections associated with Klippel-Feil syndrome.

Sato K, Yazawa Y, Igasaki S, et al.

Journal of stroke and cerebrovascular diseases : the official journal of National Stroke Association 2022; (31(5)):106399 doi:10.1016/j.jstrokecerebrovasdis.2022.106399.

Prevalence and Risk Factors of Surgical Treatment for Klippel-Feil Syndrome.

Ding L, Wang X, Sun Y, et al.

Frontiers in surgery 2022; (9()):885989 doi:10.3389/fsurg.2022.885989.

Lumbar adjacent segment degeneration after spinal fusion surgery: a systematic review and meta-analysis.

Cannizzaro D, Anania CD, Safa A, et al.

Journal of neurosurgical sciences 2023; (67(6)):740-749 doi:10.23736/S0390-5616.22.05891-X.

Wildervanck syndrome: clinical case report.

Chima-Galán MDC, Sánchez-Beltrán NA, García-Ortiz L

Archivos argentinos de pediatria 2023; (121(3)):e202202624 doi:10.5546/aap.2022-02624.eng.

Transmandibular Cervical Corpectomy for Persistent Spinal Cord Compression in a Patient With Klippel-Feil Syndrome: A Technical Note and Systematic Review.

Nie JW, Sadeh M, Almadidy Z, et al.

Operative neurosurgery (Hagerstown, Md.) 2023; (25(2)):117-124 doi:10.1227/ons.0000000000000754.

An Atypical Presentation of Early Periprosthetic Infection After Cervical Disc Arthroplasty: A Case Report.

Nigh ED, Finkel RA, Sayari AJ, et al.

JBJS case connector 2023; (13(3)) doi:10.2106/JBJS.CC.22.00679.

A Case Report of Klippel-Feil Syndrome Presenting as Tetraplegia.

Bhavana Chowdary M, S M, Kumar D, Kk A

Cureus 2023; (15(6)):e41241 doi:10.7759/cureus.41241.

A Consultation for Pediatric Neck Mass Resulting in a Rare Diagnosis of Klippel-Feil Syndrome: A Case Report.

McClintick S, McIntire K, Martin K, et al.

Cureus 2023; (15(11)):e48579 doi:10.7759/cureus.48579.

Klippel-Feil Syndrome Associated with Renal and Cardiac Anomalies in an Infant: A Case Report.

Yadav D, Bhattarai A, Bhandari P, et al.

JNMA; journal of the Nepal Medical Association 2023; (61(266)):819-821 doi:10.31729/jnma.8303.

Genetic insights into the 'sandwich fusion' subtype of Klippel-Feil syndrome: novel FGFR2 mutations identified by 21 cases of whole-exome sequencing.

Xu N, Hung KL, Gong X, et al.

Orphanet journal of rare diseases 2024; (19(1)):141 doi:10.1186/s13023-024-03134-9.

The Assessment of Airway Compression Due to Cervical Fusion in Klippel-Feil Syndrome Patients: A Report of Two Cases.

Jotaki S, Taniguchi H, Miyakawa H, Hiraki T

The Kurume medical journal 2024; (70(1.2)):73-75 doi:10.2739/kurumemedj.MS7012009.

Klippel-Feil Syndrome With Isolated Facial Dysmorphism: A Clinical Conundrum With Resemblance to Adenoid Facies.

Patil N, Jain S, Kumar N, Gemnani R

Cureus 2024; (16(4)):e58466 doi:10.7759/cureus.58466.

Transition of patients with Gaucher disease type 1 from pediatric to adult care: results from two international surveys of patients and health care professionals.

Stepien KM, Žnidar I, Kieć-Wilk B, et al.

Frontiers in pediatrics 2024; (12()):1439236 doi:10.3389/fped.2024.1439236.

Unique Case of Cervical Split Cord Malformation Type II and Klippel-Feil Syndrome in a Male Patient Symptomatically Treated With Ultrasound-Guided Botulinum Toxin Injection.

Ali M, Iliev B, Enchev Y, et al.

Cureus 2024; (16(9)):e69531 doi:10.7759/cureus.69531.

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 MYH3 Gene Mutation: A Case Report.

Ranieri M, Riccardi M, Raele MV, et al.

Journal of personalized medicine 2024; (14(11)) doi:10.3390/jpm14111073.

Cardiovascular Findings in Klippel-Feil Syndrome: A Systematic Review.

Niewchas A, Alkhatib S, Stewart C, et al.

Cureus 2024; (16(10)):e72540 doi:10.7759/cureus.72540.

An investigation of the mechanism of adjacent segment disease in a porcine spine model.

Chow N, Sinopoli SI, Whittal MC, et al.

Clinical biomechanics (Bristol, Avon) 2025; (122()):106441 doi:10.1016/j.clinbiomech.2025.106441.

Comparing intubation techniques of Klippel-Feil syndrome patients in the last 10 years: a systematic review.

Fisher M, Simonsen A, Stewart C, et al.

Journal of osteopathic medicine 2025; (125(8)):389-398 doi:10.1515/jom-2024-0136.

Radiographic and clinical findings associated with Klippel-Feil Syndrome: a case series.

Santangelo G, Megas A, Mandalapu A, et al.

Spine deformity 2025; (13(4)):1189-1195 doi:10.1007/s43390-025-01072-5.

Multisystemic presentation of Klippel-Feil syndrome with dextrocardia and right lung hypoplasia.

Toshniwal A, Ghewade B, Jain A, Patil PA

BMJ case reports 2025; (18(8)) doi:10.1136/bcr-2025-267256.

A Fatal Case of a Ruptured Posterior Communicating Artery Aneurysm in a Patient With Suspected Klippel-Feil Syndrome.

Dagoon J, Choi SJ, Park J, Chae C

Cureus 2025; (17(11)):e96575 doi:10.7759/cureus.96575.

Chiari Malformation Type I: A Review of Pathophysiology, Cerebrospinal Fluid Flow Dynamics, Diagnosis, Surgical Management, and Its Relationship to Syringomyelia.

Alhosani MS, Gachechiladze S

Cureus 2026; (18(1)):e101226 doi:10.7759/cureus.101226.

Does congenital cervical fusion predispose to adjacent segment degeneration? A retrospective cohort study.

Liu Y, Han N, Liu WG, et al.

BMC musculoskeletal disorders 2026; (27(1)).