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Klippel-Feil Syndrome with Congenital Heart Disease

JAMES J. NORA, M.D.; MARCUS COHEN, B.A.; GEORGE M. MAXWELL, M.D., M.R.C.P.
Am J Dis Child. 1961;102(6):858-864. doi:10.1001/archpedi.1961.02080010860008.
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In 1912, Klippel and Feil described the pathologic anatomy of the absence of the neck in a 46-year-old man.1 Including cases described prior to the Klippel-Feil report, such as that of Jackson Clarke,4 approximately 200 cases have been presented in the world literature. Although it has not been possible to obtain for study all of these cases, most of which are in the European literature, it has been possible to make the estimate of 200 cases from articles actually secured, and from references in review articles.

It was of considerable interest to note that while only 4 cases of congenital heart disease have been previously described in association with the Klippel-Feil syndrome, 5 cases of congenital heart disease with Klippel-Feil syndrome have been seen in one institution over a relatively short period of time. It is the purpose of this paper to call attention to this association of

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