KLIPPEL- FEIL SYNDROME

Peter J. Curcione,D.O., Resident , Orthopaedic Surgery

William Mackenzie,M.D., Attending, Pediatric Orthopaedic Surgery

September 13, 1995

CLINICAL CASE PRESENTATION

ORTHOPAEDIC DEPARTMENT

THE ALFRED I. DUPONT INSTITUTE

WILMINGTON, DELAWARE

Klippel and Feil published there first work on Klippel- Feil Syndrome in 1912.
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 of gestation.
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 cervical ROM.
Generally flexion and extension are better preserved than side- bending and rotation.
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 vertebrae, instability.
MRI with head flexed and extended should be part of the work-up. This will most accurately access subluxation and cord compression along with cord anomalies.
Using MRI, Ritterbusch et al showed 25% with C1-C2 subluxation of 5mm or more.
25% had stenosis below C1 and12% had cord anomalies. Best way to access S.A.C.
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 elements.
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 of kidney.
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.

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 junction.
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.