A TAILOR with pleurisy and nephritis was described by Klippel and Feil1 in 1912 because his neck was so short that his head seemed to rest directly on his shoulders. Head movement was very limited and the hairline was low. At postmortem examination there were only four cervical vertebrae fused into one column of bone.
Many similar cases have been reported. The Klippel-Feil syndrome is usually defined as the triad of short neck, low hairline, and limitation of neck movement. The radiological examination of the cervical spine shows a failure of segmentation of variable degree. Patients with this syndrome may be otherwise normal or may have a variety of additional anomalies. Some of these include sensorineural and conductive hearing loss, scoliosis, cleft palate, Sprengel's deformity, congenital heart malformation, facial asymmetry, nystagmus, micrognathia, and cranial nerve palsies.
In 1932 Bauman2 noticed that four of six patients with the syndrome
Baird PA, Robinson GC, Buckler WSJ. Klippel-Feil Syndrome: A Study of Mirror Movement Detected by Electromyography. Am J Dis Child. 1967;113(5):546–551. doi:10.1001/archpedi.1967.02090200078006
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