Muhammad Khalid Masood, Muhammad Yaqoob, Tahira S Izhar, Muhammad Afzal.
Klippel - Fell syndrome: A case report.
Pak Paed J Jan ;29(3):157-9.

We report a case of Klippel Feil syndrome, a 5-1/2 years old girl presented with the history of short strature restriction of neck movement and failure to gain weight and height as compared to the other siblings in the family. Physical examination, revealed an alert, intelligent looking, thin lean girl. The weight was 13kg and height was 103cm, (both below 5m centiles). Patient had webbing on both sides of the neck and torticollis on the left side. Neck was short with low hairline. Bilateral posterior cleft palate was present due to which her speech had nasal twang. Motor development was within normal limits .The chest shape and carrying angle of elbow was normal. There was no evidence of pallor, jaundice, clubbing, cyanosis or lymphadenopath, cranial nerves there normal there was no motor deficit. Bowel and bladder control was also normal. Abdominal examination showed no visceromegaly and there was no stigmata of chronic renal or liver disease. Cardiovascular examination was normal On lab investigation the total leukocyte count was 7.4 x 10e9/l with 65% polys 30% lymphos. The platelet count was 250 x 109/l, red blood cell count was 4.8 x 1012/l, and the ESR was 10mm Ist hour (westergren). Roentgenogram anter-oposterior and lateral views of the neck showed fused cervical vertebrae and hemivertebrae of cervical spines. Skiagram of the throracic, and lumbar vertebrae were normal. Both scapulae were normally placed. From the history, physical exam and X-Ray finding the child was diagnosed as having Klippel Fell Syndrome.

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