Peter J. Curcione,D.O., Resident , Orthopaedic Surgery
William Mackenzie,M.D., Attending, Pediatric Orthopaedic Surgery
September 13, 1995
CLINICAL CASE PRESENTATION
THE ALFRED I. DUPONT INSTITUTE
- Klippel and Feil published there first work on Klippel- Feil Syndrome
- KFS includes short neck, low hair line, restriction of neck motion
and fusion of at least two cervical segments.
- Original classification as described by Feil is based on the extent
of fusion but is not clinically useful.
- Etiology is unknown. What is known is that there is a failure of the
normal segmentation of cervical somites during the third and eighth weeks
- Must always be aware of the associated anomalies that occur in KFS.
Some hidden anomalies can be fatal.
- Classic triad of low posterior hair line, short neck and limited neck
ROM found in less than 50% of cases. The most consistent finding is limited
- Generally flexion and extension are better preserved than side- bending
- Patients have the ability to compensate at the unfused segments. These
inter-spaces can become extremely hypermobile.
- 20% of patients may show facial asymmetry, torticollis and neck webbing.
- Spregel' s deformity occurs in approximately 35% of cases.
- Ptosis of the eye, Duane's eye contracture, lateral rectus palsy, facial
nervepalsy and cleft palate.
- Upper extremity abnormalities, ie. syndactyly, hypoplastic thumb, supernumary
digits and hypoplasia of the upper extremity.
- Routine C-spine series followed by flexion/extension lateral X-rays.
These may show flattening and widening of vertebrae, hemivertebrae or block
- MRI with head flexed and extended should be part of the work-up. This
will most accurately access subluxation and cord compression along with
- Using MRI, Ritterbusch et al showed 25% with C1-C2 subluxation of 5mm
- 25% had stenosis below C1 and12% had cord anomalies. Best way to access
- Wasp-waist sign- anterior concave indentation at the site of the absent
or fused interspace between the fused vertebrae.
- In the young child (<5y) the fusion is more apparent in the posterior
- X-rays of the T-spine should be considered because of extension of
synostoses below the neck.
- Scoliosis- Up to 60% have >15 degrees curve. Winter et al discovered
a 25% incidence of KFS in 1215 patients with congenital scoliosis.
- May be associated with progressive kyphosis that may to be fused early.
- Genito-urinary- Up to 65% have either anomaly. Most common is absence
- Sprengel's deformity- approx. 35%
- Cardio-pulmonary- 5-15%, most commonly V.S.D.
- Deafness- 30%, all types have been described.
- Sykinesis- Mirror motions have been described in up to 20% of people.
Tend to decrease after age 5 and with the aid of O.T.
- Cranio-cervical abnormalities- Includes C1-C2 hypermobility and instability,
basilar invagination, and cervical stenosis at or below the instability.
Chiari I malformation, cervical dysraphism or diastematomyelia, syringomyelia
and intracranial tumors have been reported.
CLASSIFICATION OF HIGH -RISK PATIENTS:
- Group I: C2-C3 fusion with occipitalization of the atlas. Flexion
and extension occurs at C1-C2 thereby becoming unstable.
- Group 2: Long fusion below C2 with an abnormal occipital-cervical
- Group 3: Single open space between two fused segments.
- Symptoms are related to the hypermobility occurring at the open segments.
Can either have frank instability or osteoarthritis.
- Mechanical symptoms due to joint irritation.
- Nuerologic symptoms due to root irritation or spinal cord compression.
- Major neurologic sequela can include death or quadriplegia following
minor trauma in high-risk patients.
- Minimally involved patients lead normal lives with only minor restrictions.
- Should avoid contact sports that place neck at risk.
- For mechanical symptoms, cervical collar, analgesics, NSAIDS, or careful
traction can be used.
- For neurologic compromise a thorough work-up to find the exact area
of irritation, then fusion of the appropriate segments posteriorly. Decompression
may be employed based on the site of the stenosis.
- Dislocations and basilar invagination are treated by careful traction
followed by posterior fusion.