Klippel-Feil syndrome; a constellation of associated anomalies

J Bone Joint Surg Am. 1974 Sep;56(6):1246-53.

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.

MeSH terms

  • Abnormalities, Multiple / complications*
  • Adolescent
  • Adult
  • Child
  • Child, Preschool
  • Deafness / complications
  • Female
  • Heart Defects, Congenital / complications
  • Humans
  • Kidney / abnormalities
  • Klippel-Feil Syndrome / complications*
  • Klippel-Feil Syndrome / diagnostic imaging
  • Male
  • Movement Disorders / complications
  • Radiography
  • Scapula / abnormalities
  • Scoliosis / complications