Congenital limb deficiencies 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 cl assified according to the description of Fell (1919). Limb deficiencies wer e classified according to Henkel et al. (1978) and compared with the sclero tome theory of McCredie and Willert (1999), In a wide variety of combinations of Klippel-Feil syndrome (types I-III) an d 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", Henk el types 1, 2, 4 and 5 and 1 patient showed "longitudinal combined humero-u lna deficiencies" types 2 and 3 of both arms. The lower limb was not affect ed, The combination of Klippel-Feil syndrome and upper limb deficiency shows th at 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 o r partly matched, whereas there was no agreement in 1 patient.