The Klippel-Feil syndrome: (Congenital webbed neck).

Congenital anomalies of the vertebrae are not very uncommon, especially in the lumbar region. Those of the cervical region are much less frequently seen, especially of the type classified under the Klippel-Feil syndrome, or absence of the cervical spine. Although the deformity was probably recognized for many years before, it was not until Klippel and Feil in 1912, in the report of their case with the anatomical specimen, brought the condition into general observance that attention was more directly focussed upon it. Reports have been presented from many couitries, chiefly from France. Within the last decade nine cases have occurred in the United States of America, but as far as can be learned none have been previously reported in Canada. Klippel and Feil described three outstanding features: shortening or absence of the ne^k, low hair line, and limitation of the movements of the head and neck. The condition is described as being always associated with diminution in number, and fusion, of the cervical vertebrae, and sometimes of the upper dorsal vertebrae. As there have been only about forty cases described altogether, and only two (as far as can be found) anatomical specimens, much of the information regarding the details of the deformity is based upon speculation and x-ray evidence. Several theories are advanced regarding the etiology. The concensus of opinion is that the cause is a developmental aberration of unknown nature, affecting this group of vertebrae in early intra-uterine growth. Often there is associated fusion of the atlas to the occiput and in some cases there are nervous conditions (mirror movement and peripheral nerve lesions) although these are much less frequent than one would expect in such a pronounced deformity occurring about the upper cord. There is commonly an appearance of spina bifida occulta, always at the upper extremity of the spine, triangular in shape with the base above, which does not seem to have given rise to any difficulty in itself. Other congenital deformities may co-exist and are sometimes multiple. The head may be misshapen; there is usually more or less kyphosis; there may be slight scoliosis and, as in two of our cases, there may be visceral abnormalities also.