Summary
Key wordsIuiuhuiion. iruchw/; difficult. fibrcoptic. Klippel-Feil. In 1912 Klippel and Feil' described a patient who had shortening and limited movement of his neck, together with a low posterior hairline. Following the initial paper, Feil presented a further 13 examplesZ and classified the syndrome according to the site and cxtcnt of the spinal fusion as follows: Type I, extensive cervical and upper thoracic spinal fusion; Type 11, one or two interspace fusions often associated with hemivertebrae and occipito-atlantal fusion;
Comp/icutions;and Type 111, Type I or Type I1 fusion with co-existing fusion in the lower thoracic or lumbar spine.The incidence of Type I1 abnormalities was found to be O.71"! of 1400 Negro and Caucasian skeletons that were between the ages of 17 and 102 years, in a study from St Louis, Missouri, USA,3 and it is considered to be the most common form; Cz ,3 and Cs-6 are the interspaces usually involved. It often remains unrecognised since the neck may appear normal and the patients asymptomatic until later in lifc, when they present due to their increased susceptibility to cervical osteo-arthritis, trauma or the complications of basilar impression, if present. The inheritance patterns suggest autosomal dominant transmission for the C,-, fusion and autosomal recessive for the C, ~6 . 4 Patients with Type I ahnormalities appear to be SO times less coinrnon than Type I1 but they are reported more frequcntly. probably because they tend to exhibit the classic triad and thus present a bizarre appearance., These patients are freqiiently disabled by birth injuries, or have major anomalies in othcr organ systems. Together with Type 111 fusions, the studies suggest an autosonial recessive inheritance pattern with considerable variation in pcnctrance and e x p r e~s i o n .~ Sex distribution is unclear since some studies have shown an equal spread, some a preponderance of males and others a higher incidence amongst female^.^ ' Age distribution ranges from discovery at birth to 70 years: the incidence declines with increasing age.Klippel-Feil syndrome, thc eponym first used in 1921 by Dubreuil-Chambardel L( to describe further Type I cases. refers in its present usage, to all individuals with congenital fusion of the cervical vertebrae. Recent studies have shown the classic triad to be present in only 50% of cases and that restriction of' neck movement is the most common find-Feil's original classification has not proved clinically useful9 except in the area of genetic^,^.^ and a morc practical outlook has been proposed by some authors9,I0 who recognised cervical spine abnormality in thc form of spondylosis, hypermobility or both, complicating the fusion pattern. Patients with this potential are at high risk from spinal cord injury during the minor trauma encountered in life," ' I 2 and especially during medical manocuvrcs such as laryngoscopy, tracheal intubation and operative positioning. Thcy describcd thrcc potcntially unstable pattcrns as follows: fusion of C, with occipitalisation o...