Guille J T, Miller A, Bowen J R, Forlin E, Caro P A
Alfred I. duPont Institute, Wilmington, Delaware 19899, USA.
J Pediatr Orthop. 1995 Sep-Oct;15(5):617-26. doi: 10.1097/01241398-199509000-00014.
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.
对22例（15名女性和7名男性）Klippel-Feil综合征患者进行了回顾性研究，平均年龄35岁（范围26 - 57岁）。诊断时的平均年龄为9岁（范围从出生至32岁）。所有患者均接受了临床神经学和矫形外科检查。10例患者（45%）临床检查有异常发现，15例患者（68%）至少有一项与该综合征相关的主诉。除了先天性融合的典型表现外，所有患者的X线片均无明显异常；所有患者均未发现椎体半脱位或狭窄。磁共振成像显示100%的患者椎间盘有退行性改变，在T2加权图像上表现为低强度信号。19例患者（86%）磁共振成像扫描有异常发现，包括椎间盘突出（16例）、骨赘（4例）、脊髓空洞症（4例）以及颅颈交界水平狭窄（6例）。我们的结果证实了人们普遍持有的观点，即Klippel-Feil综合征可在成年期引发问题。
