title: The natural history of Klippel-Feil syndrome: clinical, roentgenographic, and magnetic resonance imaging findings at adulthood.
abstract: Twenty-two patients (15 women and seven men) with Klippel-Feil syndrome were reviewed at an average age of 35 years (range, 26-57 years). The average age at diagnosis was 9 years (range, birth-32 years). All patients had a clinical neurologic and orthopaedic examination. Ten patients (45%) had abnormal findings on clinical examination, and 15 patients (68%) had at least one complaint that could be related to the syndrome. The roentgenograms were unremarkable in all patients, except for the typical findings of congenital fusion; no vertebral subluxation or stenosis was noted in any patient. The magnetic resonance images revealed degenerative changes in the disks of 100% of the patients, evidenced by a low-intensity signal on the T2-weighted images. Nineteen patients (86%) had abnormal findings on the magnetic resonance imaging scans, including disk protrusion (16 patients), osteophytes (four patients), 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.
authors.affiliation: Alfred I. duPont Institute, Wilmington, Delaware 19899, USA.
authors.forename: J T
authors.initials: JT
authors.lastname: Guille
authors.forename: A
authors.initials: A
authors.lastname: Miller
authors.forename: J R
authors.initials: JR
authors.lastname: Bowen
authors.forename: E
authors.initials: E
authors.lastname: Forlin
authors.forename: P A
authors.initials: PA
authors.lastname: Caro
mesh_terms: D000328:Adult; D002574:Cervical Vertebrae / Q000000981:diagnostic imaging / Q000473:pathology; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D007403:Intervertebral Disc / Q000000981:diagnostic imaging / Q000473:pathology; D007714:Klippel-Feil Syndrome / Q000150:complications* / Q000000981:diagnostic imaging / Q000473:pathology*; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D011859:Radiography; D013115:Spinal Canal / Q000000981:diagnostic imaging / Q000473:pathology