Literature DB >> 31363914

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

Aria Nouri1,2, Kishan Patel1,2, Hardy Evans1, Mohamed Saleh1, Mark R N Kotter3, Robert F Heary4, Enrico Tessitore5, Michael G Fehlings6, Joseph S Cheng7.   

Abstract

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 Type I, II, or III based on the Samartzis criteria. Symptoms and comorbidities were assessed against type and location of fusion.
RESULTS: Seventy-five patients (60F/14M/1 unknown) were identified and classified as: Type I, n = 21(28%); Type II, n = 15(20%); Type III, n = 39(52%). Cervical fusion by level were: OC-C1, n = 17(22.7%), C1-C2, n = 24(32%); C2-C3, n = 42(56%); C3-C4, n = 30(40%); C4-C5, n = 42(56%); C5-C6, n = 32(42.7%); C6-C7, n = 25(33.3%); C7-T1, n = 13(17.3%). 94.6% of patients reported current symptoms and the average age when symptoms began and worsened were 17.5 (± 13.4) and 27.6 (± 15.3), respectively. Patients reported to have a high number of comorbidities including spinal, neurological and others, a high frequency of general symptoms (e.g., fatigue, dizziness) and chronic symptoms (limited range of neck motion [LROM], neck/spine muscles soreness). Sprengel deformity was reported in 26.7%. Most patients reported having received medication and invasive/non-invasive procedures. Multilevel fusions (Samartzis II/III) were significantly associated with dizziness (p = 0.040), the presence of LROM (p = 0.022), and Sprengel deformity (p = 0.036).
CONCLUSION: KFS is associated with a number of musculoskeletal and neurological symptoms. Fusions are more prevalent toward the center of the cervical region, and less common at the occipital/thoracic junction. Associated comorbidities including Sprengel deformity may be more common in KFS patients with multilevel cervical fusions. These slides can be retrieved under Electronic Supplementary Material.

Entities:  

Keywords:  Cervical spine; Clinical presentation; Congenital; Demographics; Klippel-Feil syndrome; Pain

Mesh:

Year:  2019        PMID: 31363914     DOI: 10.1007/s00586-019-06084-0

Source DB:  PubMed          Journal:  Eur Spine J        ISSN: 0940-6719            Impact factor:   3.134


  15 in total

1.  Radiculopathy and myelopathy at segments adjacent to the site of a previous anterior cervical arthrodesis.

Authors:  A S Hilibrand; G D Carlson; M A Palumbo; P K Jones; H H Bohlman
Journal:  J Bone Joint Surg Am       Date:  1999-04       Impact factor: 5.284

Review 2.  Congenital anomalies of the cervical spine.

Authors:  Paul Klimo; Ganesh Rao; Douglas Brockmeyer
Journal:  Neurosurg Clin N Am       Date:  2007-07       Impact factor: 2.509

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

Authors:  Jillian Gruber; Ahmed Saleh; Wajeeh Bakhsh; Paul T Rubery; Addisu Mesfin
Journal:  Spine Deform       Date:  2018 Jul - Aug

4.  Radiographic assessment of segmental motion at the atlantoaxial junction in the Klippel-Feil patient.

Authors:  Francis H Shen; Dino Samartzis; Jean Herman; John P Lubicky
Journal:  Spine (Phila Pa 1976)       Date:  2006-01-15       Impact factor: 3.468

5.  Clinical, genetic and environmental factors associated with congenital vertebral malformations.

Authors:  P F Giampietro; C L Raggio; R D Blank; C McCarty; U Broeckel; M A Pickart
Journal:  Mol Syndromol       Date:  2013-02

Review 6.  Congenital Cervical Fusion as a Risk Factor for Development of Degenerative Cervical Myelopathy.

Authors:  Aria Nouri; Allan R Martin; Stefan F Lange; Mark R N Kotter; David J Mikulis; Michael G Fehlings
Journal:  World Neurosurg       Date:  2017-01-24       Impact factor: 2.104

7.  Classification of congenitally fused cervical patterns in Klippel-Feil patients: epidemiology and role in the development of cervical spine-related symptoms.

Authors:  Dino Dip Samartzis; Jean Herman; John P Lubicky; Francis H Shen
Journal:  Spine (Phila Pa 1976)       Date:  2006-10-01       Impact factor: 3.468

8.  Klippel-Feil syndrome in congenital scoliosis.

Authors:  Xuhong Xue; Jianxiong Shen; Jianguo Zhang; Ye Tian; Hong Zhao; Yipeng Wang; Jinqian Liang; Zheng Li; Guixing Qiu
Journal:  Spine (Phila Pa 1976)       Date:  2014-11-01       Impact factor: 3.468

9.  "Clinical triad" findings in pediatric Klippel-Feil patients.

Authors:  Dino Samartzis; Prakasam Kalluri; Jean Herman; John P Lubicky; Francis H Shen
Journal:  Scoliosis Spinal Disord       Date:  2016-06-27

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

Authors:  Aria Nouri; Lindsay Tetreault; Juan J Zamorano; Chandan B Mohanty; Michael G Fehlings
Journal:  Global Spine J       Date:  2015-03-05
View more
  4 in total

1.  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].

Authors:  Bailong Hu; Haiyan Zhou; Xiaohua Zou
Journal:  Eur Spine J       Date:  2019-11-26       Impact factor: 3.134

Review 2.  Risk factors for the development of degenerative cervical myelopathy: a review of the literature.

Authors:  Guillaume Baucher; Jelena Taskovic; Lucas Troude; Granit Molliqaj; Aria Nouri; Enrico Tessitore
Journal:  Neurosurg Rev       Date:  2021-11-30       Impact factor: 3.042

3.  Comparative proteomics analysis for identifying the lipid metabolism related pathways in patients with Klippel-Feil syndrome.

Authors:  Ziquan Li; Cong Zhang; Bintao Qiu; Yuchen Niu; Ling Leng; Siyi Cai; Ye Tian; Terry Jianguo Zhang; Guixing Qiu; Nan Wu; Zhihong Wu; Yipeng Wang
Journal:  Ann Transl Med       Date:  2021-02

4.  Degenerative Cervical Myelopathy: Development and Natural History [AO Spine RECODE-DCM Research Priority Number 2].

Authors:  Aria Nouri; Enrico Tessitore; Granit Molliqaj; Torstein Meling; Karl Schaller; Hiroaki Nakashima; Yasutsugu Yukawa; Josef Bednarik; Allan R Martin; Peter Vajkoczy; Joseph S Cheng; Brian K Kwon; Shekar N Kurpad; Michael G Fehlings; James S Harrop; Bizhan Aarabi; Vafa Rahimi-Movaghar; James D Guest; Benjamin M Davies; Mark R N Kotter; Jefferson R Wilson
Journal:  Global Spine J       Date:  2022-02
  4 in total

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