THE NATURAL-HISTORY OF KLIPPEL-FEIL SYNDROME - CLINICAL, ROENTGENOGRAPHIC, AND MAGNETIC-RESONANCE-IMAGING FINDINGS AT ADULTHOOD

Twenty-two patients (15 women and seven men) with Klippel-Feil syndrom e were reviewed at an average age of 35 years (range, 26-57 years). Th e average age at diagnosis was 9 years (range, birth-32 years). All pa tients had a clinical neurologic and orthopaedic examination. Ten pati ents (45%) had abnormal findings on clinical examination, and 15 patie nts (68%) had at least one complaint that could be related to the synd rome. The roentgenograms were unremarkable in all patients, except for the typical findings of congenital fusion; no vertebral subluxation o r stenosis was noted in any patient. The magnetic resonance images rev ealed degenerative changes in the disks of 100% of the patients, evide nced by a low-intensity signal on the T2-weighted images. Nineteen pat ients (86%) had abnormal findings on the magnetic resonance imaging sc ans, including disk protrusion (16 patients), osteophytes (four patien ts), syringomyelia (four patients), and narrowing at the level of the craniovertebral junction (six patients). Our results confirm the well- held belief that the Klippel-Feil syndrome can cause problems in adult life.