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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)

Congenital limb deficiences associated with Klippel-Feil syndrome: a survey of 57 subjects.

We reviewed data from 57 patients (40 women) with Klippel-Feil syndrome to identify and characterize limb deficiencies. The cervical synostosis was classified according to the description of Feil (1919). Limb deficiencies were classified according to Henkel et al. (1978) and compared with the sclerotome theory of McCredie and Willert (1999). In a wide variety of combinations of Klippel-Feil syndrome (types I-III) and other anomalies, only 5 patients had a longitudinal upper limb deficiency (one arm or both arms). 4 patients had Klippel-Feil syndrome type II and 1 had type I. 4 patients had "longitudinal distal radial deficiencies", Henkel types 1, 2, 4 and 5 and 1 patient showed "longitudinal combined humero-ulna deficiencies" types 2 and 3 of both arms. The lower limb was not affected. The combination of Klippel-Feil syndrome and upper limb deficiency shows that the defect occurred between the 4th and 5th week of gestation. Sclerotome 6 was mainly affected in our study. In 4 of the 5 patients, the cervical fusion level and sclerotome level of the limb deficiency clearly or partly matched, whereas there was no agreement in 1 patient.[1]


  1. Congenital limb deficiences associated with Klippel-Feil syndrome: a survey of 57 subjects. Thomsen, M., Kröber, M., Schneider, U., Carstens, C. Acta orthopaedica Scandinavica. (2000) [Pubmed]
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