Klippel-Feil Syndrome

Introduction

Defined as multiple abnormal segments of cervical spine
Pathophysiology
- due to failure of normal segmentation or formation of cervical somites at 3-8 weeks gestation
- adjacent level disease
  - degeneration of adjacent segments of cervical spine that has not fused is common due to increased stress
Associated conditions
- congenital scoliosis
- Sprengel's deformity (33%)
- renal disease (aplasia in 33%)
- synkinesis (mirror motions)
- congenital heart disease
- brainstem abnormalities
- congenital cervical stenosis
- basilar invagination
- Atlantoaxial instability (~50%)

Physical Exam

Symptoms
- stiff neck
Physical exam
- classic triad (seen in fewer than 50%)
  - low posterior hair line
  - short webbed neck
  - limited cervical ROM
- other findings
  - high scapula (Sprengel Deformity)
  - jaw anomalies
  - partial loss of hearing
  - torticollis
  - scoliosis

Imaging

Imaging
- recommended views
  - AP, lateral, and odontoid views
- findings
  - basilar invagination
    - is seen on lateral view
    - defined as dens elevation above McRae's line
  - atlantoaxial instability
    - is present when the atlanto dens interval is greater than 5 mm
    - cervical spinal canal stenosis is seen when spinal cord canal < 13 mm
  - degnerativative changes
    - degnerativative disease of the cervical spine is seen in 100%
  - calcifications
    - calcifications may be seen within the intervertebral space
      - resolution within 6 months is common

Treatment

Nonoperative
- observation with no contact sports
  - indications
    - vast majority of cases
      - it is difficult to surgically address the failure of segmentation in the cervical vertebrae
  - counseling important to avoid gymanstics, football and trampoline usage
Operative
- surgical decompression and fusion
  - indications
    - basilar invagination
    - chronic pain
    - myelopathy
    - associated atlantoaxial instability

TAG

(OBQ11.117) The 10-year-old boy shown in Figures A-B wishes to participate in junior football. A cervical spine CT scan is shown in Figure C. His renal evaluation shows unilateral renal aplasia and his cardiac evaluation is normal. What is his most likely diagnosis and the most appropriate corresponding medical clearance decision for playing football? Topic

Review Topic

FIGURES: A

1. Klippel-Feil syndrome with no participation in contact sports
2. Down's syndrome with no participation in contact sports
3. Holt-Oram syndrome with no participation in contact sports
4. Down's syndrome with full participation in contact sports only following skeletal maturity
5. Klippel-Feil syndrome with full participation in contact sports only following skeletal maturity

PREFERRED RESPONSE ▶

DISCUSSION: Klippel-Feil syndrome is defined as congenital cervical fusion of cervical vertebra characterized by a triad of a low, posterior hairline, a short neck, and limited neck motion. Klippel-Feil patients with cervical spine fusions above C3 should not participate in contact sports. It is critical that patients undergo a cardiac and renal evaluation upon their diagnosis to look for cardiac septal defects and several different types of renal anomalies.

Patients with congenital cervical fusion may be at an increased risk of sustaining a transient neurologic deficit after minor trauma. Illustration A and B show a radiograph and MRI of a Klippel-Feil patient sustaining a central cord syndrome following a fall during a sporting activity.

Illustrations: A

REFERENCES:

1. Weinstein SL, ed. The Pediatric Spine. 2nd ed. Philadelphia, PA: Lippincott Williams & Wilkins; 2001:303-19.

2. Herring JA, ed. Tachdjian's Pediatric Orthopaedics. 4th ed. Philadelphia, PA: WB Saunders; 2008:221-223.

Question Authors:

Michael Hughes MD, John Badylak MD, Ben Taylor MD, Eric Shirley MD,

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Textbooks

Review of Orthopaedics, 6th Edition, Mark D. Miller MD, Stephen R. Thompson MBBS MEd FRCSC, Jennifer Hart MPAS PA-C ATC, an imprint of Elsevier, Philadelphia, Copyright 2012
AAOS Comprehensive Orthopaedic Review, Jay R. Leiberman. Published by American Academy of Orthopaedic Surgeons, Rosemont IL. Copyright 2009
Orthopaedic Knowledge Update 10, John M Flyn. Published by American Academy of Orthopaedic Surgeons, Rosemont IL. Copyright 2011
Hoppenfeld SP. Surgical Exposures in Orthopaedics: The Anatomic Approach. Lipponcott, Williams, and Wilkins, Philadelphia, PA, Copyright 2009
Orthopaedic In-training Examination (OITE) Questions 2004-2012, American Academy of Orthopaedic Surgeons, Rosemont IL. Copyright 2004-2012
Self-Assessment Examination (SAE) Questions 2004-2012, American Academy of Orthopaedic Surgeons, Rosemont IL. Copyright 2004-2012
Weinstein SL, ed. The Pediatric Spine. 2nd ed. Philadelphia, PA: Lippincott Williams & Wilkins; 2001:303-19.
Herring JA, ed. Tachdjian's Pediatric Orthopaedics. 4th ed. Philadelphia, PA: WB Saunders; 2008:221-223.

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