Klippel-Feil syndrome; a constellation of associated anomalies

Abstract

Of fifty patients with the diagnosis of Klippel-Feil syndrome, less than half had the classic clinical triad of findings, while more than half had scoliosis, and a third had renal anomalies. All patients were at risk of having other serious, but less apparent, anomalies, including: Sprengel's deformity (twenty-one patients), impairment of hearing (fifteen patients), synkinesia (nine patients), and congenital heart disease (seven patients). The discovery of one of these lesions should, therefore, stimulate a careful search for associated anomalies.