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KLIPPEL FEIL SYNDROME

Simran Singh*, K Shakthi Kumar*, D Venugopala**, M Paul Korath***, A Govindan+, K Jagadeesan++
*Resident Radiodiagnosis; **Registrar in Medicine; ***Chief Physician; +Director, Dept. of Imaging; ++Director; KJ Hospital Research and Postgraduate Centre, Chennai - 600 084.

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INTRODUCTION

The Klippel Feil deformity is a complex of osseous and visceral anomalies that includes low hair line, platybasia, fused cervical vertebra with short neck and deafness along with involvement of other systems. The bony malformations may entrap and damage the brain and spinal cord. The disorders of the lower vertebral region may become symptomatic with rapid growth seen in adolescence or in adult life. Here we present a six year boy with purely skeletal deformities without any other visceral abnormalities.

CASE REPORT

A six year old boy was brought with complaints of right sided chest pain of pricking nature of three months duration which increased on lifting his school bag. There was no history of syncope, effort intolerance, cyanosis, palpitation. The child had been having recurrent lower respiratory tract infection since childhood.

On examination, the boy was alert co-operative cheerful with normal milestones of development. Physical examination revealed a lordotic stance, genu recurvatum, low hair line, webbed neck (Fig. 1), scoliosis with convexity towards the left, deformed right chest wall, high placed scapulae, a tuft of hair in the lumbosacral region (Fig. 2) with a defect palpable clinically in that region of the vertebral column. Lateral flexion of the neck was restricted.

Systemic examination was normal. Genital, neurological, ENT examination were also normal. There was no family history of any known congenital abnormality. He was born of non consanguineous parents in a family of four. The other siblings were healthy with no skeletal dysmorphic features.

Laboratory investigations including haematological, clinical chemistry, urine test for mucopolysaccharidoses, aminoaciduria were normal. ECG, echocardiogram, audiogram were all reported normal.

Radiological examination revealed hemivertebra of the C7 and it was fused to C6. There was partial fusion of T1 and T2, hypoplastic first right rib and fusion of right 2nd, 5th ribs posteriorly (Fig. 3). The scapulae were high placed. Lumbosacral region skuiagram revealed spina bifida L4, L5, S1 vertebrae (Fig. 4). Sonography of abdomen and computerised tomography scan of brain were reported normal (Figs. 5 and 6).

DISCUSSION

Klippel Feil syndrome (KPS) was first described by Maurice Klippel, a French internist and Andre Feil in a patient with congenital fusion of cervical vertebrae. [1] Based on clinico radiological features it is classified into :

Type 1 : Fusion of cervical and upper thoracic vertebrae with synostosis accounting for 40%.

Type 2 : Isolated cervical spine fusion accounting for 47%.

Fig. 1 : Frontal view showing webbing of the neck	Fig. 3 : Chest skiagram showing hemivertebra of C7 and its fusion with C6, partial fusion of T1 & T2, hypoplastic first rib on the right and fusion of the right T2-5 ribs on the posterior aspect. both the scapulae are high placed.
Fig. 2 : Showing tuft of hair in the lumbosacral region on the back.
	Fig. 4 : Lumbosacral skiagram showing spina bifida of L4 5 SI vertebrae.
Fig. 5 : Plain CT scan of the brain appears normal.	Fig. 6 : Plain CT scan of brain revealing anatomy of the posterior fossa

Type 3 : Cervical vertebrae with lower thoracic or upper lumbar fusion accounting 13%.

Type 2 has the lowest risk of the scoliosis. [2] A fourth type has been suggested and is associated with sacral agenesis. [3] Our case showed features of Type 1 with associated congenital skeletal dysmorphic features.

Embryological vascular disorder like subclavian artery supply disruption sequence have been hypothesized to result in Klippel Feil syndrome. [4]

The classical clinical triad consist of short neck, limitation of head and neck movements, and low set posterior hairline. Several associated abnormalities like scoliosis, spina bifida occulta, absence of rib, conductive hearing loss, mirror movements, unilateral renal ectopia with dilated collecting system, microtia, preaxial polydactyly have also been reported. Other abnormalities include sprengel shoulder, omovertebral bone, hypoplastic, right thumb, choanal atresia, diamond blackfan anaemia. [5] Pattern of bony fusion may involve more than one level giving rise to wasp waist sign which is a valuable radiological sign of Klippel Feil syndrome. [6] but was not seen in our case. Cervical spondylosis, disc herniation and secondary degenerative changes are more at levels adjacent to fused vertebra, [7] neurological complications and degenerative diseases are seen with upper and lower cervical segment hyper mobility respectively. Spontaneous and progressive neurological sequelae and neurological injury may follow trivial neck trauma. Risk increases in case of unstable fusions, cranio cervical anomalies, spinal stenosis and such cases should be adequately followed up. [8]

Radiographs will display only vertebral fusion. Minor vertebral anomalies may be associated with major hind brain anomalies. In such cases magnetic resonance imaging is the ideal modality as it will also show degenerative disc diseases. [9]

Rarely sleep disordered breathing like fatal obstructive sleep apnoea or stridor or bradypnoea may be seen and all children diagnosed with Klippel Feil syndrome should be regularly followed up for these. [10]

Our case presented with a short neck; limited neck movements, lowset posterior hairline. Associated features were fused C6 and C7 and partial fusion of T1 and T2 along with scoliosis, spina bifida occulta, hypoplastic right first rib and high placed scapulae. With these features it fits in well with the Type 1 variety of Klippel Feil syndrome.

Treatment usually involves regular follow up for onset and progress of degenerative and neurological manifestations. Corrective surgery can be done to lower the scapula for cosmetic reasons.

CONCLUSION

Our case of Klippel Feil syndrome evidently had only skeletal dysmorphism without any significant neurological or degenerative sequelae. All the same he is being followed up regularly at our centre.

REFERENCES

1. Patel PR, Lauerman WC. Maurice Klippel. Spine Oct. 1, 1995; 20 (19) : 2157-60.
2. Thomsen MN, Schneider U, Weber M, et al. Scoliosis andcongenital anomalies associated with Klippel Feil syndrome type I-III. Spine Feb. 15, 1997; 22 (4) : 396-401.
3. Raas-Rothschild A, Goodman RM, et al. Klippel Feil anomaly with sacral agenesis - an additional subtype. Type IV. J Craniofac Genet Dev Biol 1988; 8 (4) : 297-301.
4. Brill CB, Peyster RG, et al. Isolation of right subclavian steal in a child with klippel feil syndrome. Am J Med Genet April 16. 1987; 933-400.
5. Greenspan A, Cohen J, Szabo RM. Klippel Feil syndrome - an unusual association with sprengel deformity, omovertebral bone, and other skeletal, haematologic and respiratory disorders. A case report. Bull Hosp Jt Dis Ortho Inst Spring 1991; 51 (1) : 54-62.
6. Nyugen VD, Tyrrel R. Klippel Feil syndrome-patterns of bony fusion and wasp waist sign. Skeletal Radiol Oct. 1993; 22 (7) : 519-23.
7. Ulmer JL, Elster AD, et al. Klippel Feil syndrome : CT and MR of acquired and congenital abnormalities of cervical spine and cord. J Comput Assist Tomogr Mar.-Apr. 1993; 17 (2) : 215-24.
8. Smith BA, Griffin C. Klippel Feil syndrome. Ann Emerg Med Jul., 1992; 21 (7) : 876-79.
9. Guille JT, Miller A, et al. The natural history of klippel feil syndrome : clinical, roentgenographic, and magnetic resonance imaging findings at adulthood. J Pediat Orthop Sep.-Oct. 1995; 15 (5) : 617-26.
10. Rosen CL, Novotny EJ, et al. Klippel Feil sequence and sleep disordered breathing in two children. Am Rev Resp Dis Jan. 1993; 147 (1) : 202-4.

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