51 Klippel-Feil Anomaly
Klippel-Feil Anomaly 729
KFS, Klippel-Feil Syndrome
Faulty segmentation of cervical vertebrae with short neck, limited head movement, low posterior hairline Frequency: >1 in 40,000 births.
Genetics
Autosomal dominant (KF1, OMIM 148900) with re- duced penetrance and variable expression; gene lo- cus maps to 8q22.2; most cases sporadic; probably an heterogeneous entity with some autosomal recessive (KF1, KF3, OMIM 214300) cases, including a gene locus at 5q11.2, and some with a complex genetic ba- sis or due to teratogens or deficient subclavian artery supply; autosomal dominant (KF2, OMIM 118100) with variable expression; questionable autosomal re- cessive form; association with congenital perceptive deafness and Duane syndrome, the Wildervanck syn- drome, possibly X-linked dominant lethal in hemi- zygotes (OMIM 314600) or multifactorial.
Clinical Features
• Limited head movement
• Short neck (head directly on thorax), head tilt
• Low posterior hairline, flaring trapezium
• Distorted facies, strabismus
• Low-set ears, hearing loss
• Neurological, renal, heart defects
• Cervical vertebral malsegmentation
– Type I – massive fusion of many cervical and upper thoracic vertebrae into bony blocks – Type II – fusion at only one or two interspaces
(most frequently C2–3), sometimes associated with hemivertebrae, occipito-atlantal fusion and other anomalies (most common type) – Type III – cervical fusion and lower thoracic or
lumbar fusion
– Type IV – Wildervanck syndrome (Klippel-Feil anomaly + abducens paralysis + deafness)
Differential Diagnosis
• Wildervanck syndrome
• Acquired forms of vertebral fusion
• MURCS association
Radiographic Features Spine
• Unsegmented vertebrae (cervical or cervicotho- racic)
• Hemivertebrae, cleft vertebrae
• Scoliosis
• Sacral segmentation defects reported
• Spina bifida occulta Skull
• Occipitalization of the atlas
• Partial duplication of the jaws Chest
• Sprengel deformity
• Small scapula
• Rib segmentation defects, cervical ribs Limbs
• Postaxial polydactyly
K K
Fig. 51.1. Patient 1, newborn. Short neck, with low posterior hairline and low-set ears
Klippel-Feil Anomaly 730
Fig. 51.2 a, b. Patient 2, age 8 years. a Short neck, slightly distorted facies; b low-posterior hair- line, flaring of trapezius muscles. (From archive of Dr. P. Balestrazzi, University of Parma, Italy)
a b
Fig. 51.3. a, b Patient 3, age 5 years. Cervical and high thoracic spina bifida, and vertebral fusion at C2–3. c, d Patient 4, adult.
Note cervical segmentation defects and lateral hemivertebra
at the cervicothoracic junction, resulting in severe scoliosis.
ePatient 5, adult. Note vertebral fusions at C3–4 and C5–6 a
d e
b c
Bibliography
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Clarke RA Singh S, McKenzie H, Kearsley JH, Yip MY.
Familial Klippel-Feil syndrome and paracentric inversion inv(8)(q22.2q23.3). Am J Hum Genet 1995; 57: 1364–70 Clarke RA, Catalan G, Diwan AD, Kearsley JH. Heterogeneity in
Klippel-Feil syndrome: a new classification. Pediatr Radiol 1998; 28: 967–74
Guille JT, Miller A, Bowen JR, Forlin E, Caro PA. The natural history of Klippel-Feil syndrome: clinical, roentgenograph- ic, and magnetic resonance imaging findings at adulthood.
J Pediatr Orthop 1995; 15: 617–26
Gunderson CH, Greenspan RH, Glaser GH, Lubs HA. The Klip- pel-Feil syndrome: genetic and clinical reevaluation of cer- vical fusion. Medicine 1967; 46: 491–512
Raas-Rothschild A, Goodman RM, Grunbaum M, Berger I, Mi- mouni M. Klippel-Feil anomaly with sacral agenesis: an additional subtype, type IV. J Craniofac Genet Dev Biol 1988; 8: 297–301
Rouvreau P, Glorion C, Langlais J, Noury H, Pouliquen JC.
Assessment and neurologic involvement of patients with cervical spine congenital synostosis as in Klippel-Feil syn- drome: study of 19 cases. J Pediatr Orthop B 1998; 7: 179–85 Klippel-Feil Anomaly 731
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Fig. 51.4. Patient 5, adult. Sprengel deformity of the left shoul- der: the scapula is small and has an abnormally high position, being anchored to the cervical spine through a partially ossi- fied cartilaginous bridge. Note the presence of an accessory os- sicle at the spinal insertion of the levator scapulae muscle, and extensive vertebral segmentation defects of the cervical spine
