1. A CASE OF SHORT NECK PROF.S.TITO’S UNIT

4. No h/o diff in passing through narrow pathways No h/o sensory disturbancces h/o diff in walking in darkness,&face wash No h/o olfactory, visual disturbances No h/o motor and sensory abnormalities of face h/o change of voice -3months No h/o other cranial nerve disturbances No h/o bladder,bowel and other autonomic disturbances

5. PAST HISTORY; No h/o DM,HT,TB h/0 trauma falling from height present treated as IP in hospital 2 months records not available at 2 yrs of age. Personal history; occ.smoker,alcoholic Family history; no h/o any relevant illness

6. GENERAL EXAMINATION Pt conscious,oriented,notanaemic not jaundiced,nocyanosis,no clubbing ,no gla. Height:neck ratio 19:1 Webbing of neck Low hair line sprengel’s anomaly Left hemiatrophy Restricted neck movts on side to side Prominent epiglottis on opening mouth Mirror movements-synkinesia Pulse 70/mt,BP102/66 mmhg

7. SHORT NECK LOW HAIRLINE

8. PROMINENT EPIGLOTTIS

9. LT.HEMIATROPHY

10. synkinesia

11. HMF-NORMAL Cranial nerves;1,2,3,4,,6,7-normal 5th nerve – lt side diminished cor reflex dim. touch sensation with brisk jaw jerk 8th nerve conductive deafness lt side 9&10 nerves gag reflex diminished 11th nerve normal 12th nerve normal

12. Motor system Superficial reflexes –abdominal and cremasteric reflex present

13. Spastic gait

14. Sensory system Pain and temperarure-normal Joint position and vibration sense diminished in all four limbs incl.vertebral Romberg’s sign positive

15. CEREBELLUM No nystagmus Finger nose,figer-finger-nose defective Lt.side No Dysdiaadokinesia,slurring of speech present Heel-shin test positive-lt side Tandem walking-defective

16. INVESTIGATIONS

17. Basilar Angle

19. BasillarinvaginationChamberlain`s line

20. MCGREGOR’S LINE (Basal line)- Joins hard palate to lowest point of occipital bone Tip of dens should not exceed 5 mm above this line Mcgregor`s Line

21. Height Index Of Klaus HEIGHT INDEX OF KLAUS – dense to tuberculam line < 30 basillarinvagination

22. McRae’s LINE Joins anterior and posterior edges of foramen magnum: sagittal diameter of foramen magnum. (Avg – 35mm);dense below the line foramen stenosis McRae`s Line

23. Clivus Canal Line

25. MRI LS SPINE

26. DIAGNOSIS KLIPPEL FEIL SYNDROME

27. KLIPPEL FEIL SYNDROME Congenital fusion of cervical vertebrae Failure of normal segmentation of the cervical vertebrae/somite between 3rd and 8th weeks of fetal development (rather than a secondary fusion) Maurice Klippel and Andre Feil – 1912 Incidence – 1 in 42,000 births ; more in females Autosomal dominant inheritance – C2-C3 fusion. Autosomal recessive – C5- C6 fusion

28. CLASSIFICATION Feil’s classification Type I – massive fusion of many cervical and upper thoracic vertebrae with synostosis Type II – fusion of only 1 or 2 vertebrae (with hemivertebrae , scoliosis, occipitoatlantoid fusion) Type III – presence of lower thoracic and upper lumbar spine anomalies with I/II Type IV – sacral agenesis Samartzis’s classification (2006) To clarify prognosis Type I – single congenitally fused cervical segment Type II – multiple non-contiguous fused segments Type III – multiple contiguous fused segments

29. CLINICAL FEATURES Patients with upper cervical spine involvement tend to present at an earlier age than those whose with lower cervical spine involvement Rotational loss and lateral bending is usually more pronounced than loss of flexion and extension because latter movements take place mostly between occiput and atlas Scoliosis – some patients congenital due to involvement of thoracic spine , others scoliosis compensatory to cervical scoliosis

30. FEIL’S TRIAD Low posterior hair line Short neck Limitation of head and neck movements / decreased range of motion in cervical spine

31. CLINICAL FEATURES Webbing of soft tissues on each side of the neck (extending from mastoid process to acromion of shoulders)- ‘pterygiumcolli’ torticollis due to contracture of sternocleidomastoid muscle or bony abnormalities Facial asymmetry Sprengel deformity/ high scapula Scoliosis and/or kyphosis

32. CLINICAL FEATURES CONTD.. Musculoskeletal sys- cervical rib, congenital fusion of ribs, abnormal costovertebral joints, syndactyly, hypoplastic thumb, supernumerary digits, hypoplasia of pectoralis major, hemiatrophy of upper or lower limbs, CTEV, sacral agenesis Urinary tract abnormalities – agenesis of kidney, horseshoe kidney, hydronephrosis, tubular ectasia, renal ectopia, double collecting system Cardiovascular- VSD, PDA, coarctation of aorta, patent foramen ovale

33. CLINICAL FEATURES CONTD.. Deafness (absence of auditory canal and microtia) Synkinesia- involuntary paired movements of the hand ( mirror movements) Neurologic deficit- facial nerve Palsy, rectus muscle palsy, ptosis of eye, cleft palate, etc

34. RADIOLOGICAL FINDINGS Cervical spine routine x-ray 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 will most accurately access subluxation and cord compression along with cord anomalies. 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 because of extension of synostoses below the neck.

35. TREATMENT Medical therapy depends on the congenital anomalies present in the syndrome. Referrals to Nephrology Urology Cardiology ENT may be needed because of the associated anomalies NEUROSURGEON

36. TREATMENT 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. Neurologic deficits and persistent pain are indications for surgery

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