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Klippel Feil Syndrome

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Other Names

  • KFS
  • Klippel-Feil Syndrome

Background

  • Klippel-Feil Syndrome (KFS) is a congenital disease characterized by fusion of 2 or more cervical vertebrae
    • Often associated with other organ system anomalies

History

  • First described in 1912 by the French physicians Maurice Klippel and Andre Feil[1]

Epidemiology

  • Prevalence and incidence likely underestimated due to heterogeneity in phenotype
  • Incidences are estimated to be approximately 1 of 40,000 to 42,000 births and are seen more frequently in females[2]

Pathophysiology

  • Diagnosis is unified by congenital fusion
    • Other signs are widely heterogeneous
  • Arises from failure of vertebral segmentation in 3rd-8th weeks of gestation[3]
  • May follow autosomal recessive or dominant inheritance pattern with variable penetration[4]

Associated Conditions

  • Craniocervical anomalies
  • Cervical Spine Stenosis
  • Scoliosis, most common seen in 50-70% of patients[5]
  • Kyphoscoliosis
  • Hemivertebrae
  • Syringomyelia
  • Meningocele
  • Extra-axial[6]
    • Urological anomalies (35%–64%),
    • Deafness (30%)
    • Congenital heart disease (14%)
    • Sprengel deformity (30%–42%)
    • Rib anomalies (46%)
    • Torticollis

Risk Factors

  • Genetic
    • SGM1 gene (Chr 8)
    • Notch and Pax genes

Differential Diagnosis


Clinical Features

  • General: Physical Exam Neck
  • History
    • Stiff neck/ poor range of motion
  • Physical Exam
  • Classic triad seen in 50% of patients[7]
    • Low posterior hairline
    • Short neck
    • Decreased cervical range of motion
  • Other findings
    • Scoliosis
    • Torticollis
    • Hearing Loss
    • Jaw anomalies
    • High riding scapula

Evaluation

Radiographs

  • Standard Cervical Spine Radiographs
  • Recommend AP, lateral, odontoid,
  • Findings[8]
    • Basilar invagination (dens elevation(
    • Atlantoaxial Instability
    • Vertebral fusion (fused facets and spinous processes)
    • AP narrowing of the vertebral bodies (wasp-waist sign)
    • Hemivertebrae
    • Omovertebral bone
    • Spina bifida
  • Flexion Extension Radiographs
    • Less movement between fused segments
    • Increased movement between non-fused portions

CT

  • Provides more osseus details
  • Helpful to evaluate
    • Canal stenosis
    • Preoperative planning

MRI

  • Indicated if neuro deficits to evaluate soft tissue structures
  • Cord abnormalities seen in 12% of cases[9]

Classification

  • Proposed classification (not universally accepted)
    • Type I — Fusion of C2 and C3 with occipitalization of the atlas.
    • Type II — Long fusion below C2 with an abnormal occipital-cervical junction.
    • Type III — A single open interspace between two fused segments.

Management

Prognosis

  • No definitive treatment

Nonoperative

  • Primary treatment is aimed at preventative activities
  • Lifestyle modifications
  • Avoid contact and collision sports
  • Consider Cervical Collar for symptom relief
  • Consider cervical spine traction

Operative


Rehab and Return to Play

Rehabilitation

  • Needs to be updated

Return to Play

  • Needs to be updated

Complications


See Also


References

  1. Klippel M, Feil A. Anomalie de la colonne vertebrale par absence des vertebres cervicales. Cage thoracique remontant jusqua la base du crane. Bull Mem Soc Anat Paris 1912;87:185.
  2. Corsello G, Carcione A, Castro L, et al. Cervico-oculo-acusticus (Wildervanck) syndrome: a clinical variant of Klippel-Feil sequence? Klin Padiatr 1990;202:176–9.
  3. Smith BA, Griffin C. Klippel-Feil syndrome. Ann Emerg Med 1992;21:876–9.
  4. Naikmasur VG, Sattur AP, Kirty RN, et al. Type III Klippel-Feil syndrome: case report and review of associated craniofacial anomalies. Odontology 2011;99:197–202.
  5. Thomsen MN, Schneider U, Weber M, et al. Scoliosis and congenital anomalies associated with Klippel-Feil syndrome types I–III. Spine 1997;22:396–401.
  6. Xue, Xuhong, et al. "Klippel-Feil syndrome in congenital scoliosis." Spine 39.23 (2014): E1353-E1358.
  7. Hensinger RN, Lang JE, MacEwen GD. Klippel-Feil syndrome. A constellation of associated anomalies. J Bone Joint Surg Am 1974;56:1246–53.
  8. https://radiopaedia.org/articles/klippel-feil-syndrome-3?lang=us
  9. Karasick D, Schweitzer ME, Vaccaro AR. The traumatized cervical spine in Klippel-Feil syndrome: imaging features. AJR Am J Roentgenol. 1998;170 (1): 85-8.
Created by:
John Kiel on 12 July 2019 00:22:16
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Last edited:
17 November 2020 16:38:18
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