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Objectives <p>To characterize the patient demographics, medical comorbidities, spinal anatomic characteristics, and surgical management of patients with Klippel–Feil Syndrome (KFS).</p> Methods <p>An institutional billing database was used to identify patients with KFS, which was confirmed by the authors’ review of imaging. The patient data were categorized by patient demographics, medical comorbidities, spinal anatomic characteristics, and surgical management.</p> Results <p>In our cohort of 93 patients with KFS, more females than males (53% vs 47%) were affected. The mean age was 46&#xa0;years old. The most common levels of fusion were C2-C3 (15%) and C5-C6 (13%). Following the Samartzis classification, 67% were type I, 14% were type II, and 22% were type III. There was a 29% occurence of scoliosis. Among those with scoliosis, 27% were diagnosed in adolescence, 40% had scoliosis in the cervical region, 20% thoracic, and 20% lumbar. A total of 26% of patients underwent spine surgery primarily for stenosis (6/24) and myelopathy (5/24). Of the spine surgeries, 58.3% were posterior-based procedures, 16.7% anterior and posterior-based procedures, 12.5% anterior-based procedures, 8.3% of patients had a spinal discectomy, and 1 patient underwent a torticollis release. A total of 18 out of 24 of the surgical procedures (75%) were at or adjacent to the level of congenital fusion.</p> Conclusion <p>KFS is commonly associated with degenerative changes, neural compression, and traumatic instability in intervertebral discs adjacent to fused vertebrae. Surgical intervention in patient with KFS largely involved posterior spinal fusions involving or adjacent to levels of congenital vertebral fusions.</p> Graphical abstract <p></p>

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Radiographic and clinical findings associated with Klippel–Feil Syndrome: a case series

  • 期刊论文

  • 发表日期：

    2025年4月14日

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  • Gabrielle Santangelo,
  • Andrew Megas,
  • Aniruddh Mandalapu,
  • Ram Haddas,
  • Addisu Mesfin

摘要

Objectives

To characterize the patient demographics, medical comorbidities, spinal anatomic characteristics, and surgical management of patients with Klippel–Feil Syndrome (KFS).

Methods

An institutional billing database was used to identify patients with KFS, which was confirmed by the authors’ review of imaging. The patient data were categorized by patient demographics, medical comorbidities, spinal anatomic characteristics, and surgical management.

Results

In our cohort of 93 patients with KFS, more females than males (53% vs 47%) were affected. The mean age was 46 years old. The most common levels of fusion were C2-C3 (15%) and C5-C6 (13%). Following the Samartzis classification, 67% were type I, 14% were type II, and 22% were type III. There was a 29% occurence of scoliosis. Among those with scoliosis, 27% were diagnosed in adolescence, 40% had scoliosis in the cervical region, 20% thoracic, and 20% lumbar. A total of 26% of patients underwent spine surgery primarily for stenosis (6/24) and myelopathy (5/24). Of the spine surgeries, 58.3% were posterior-based procedures, 16.7% anterior and posterior-based procedures, 12.5% anterior-based procedures, 8.3% of patients had a spinal discectomy, and 1 patient underwent a torticollis release. A total of 18 out of 24 of the surgical procedures (75%) were at or adjacent to the level of congenital fusion.

Conclusion

KFS is commonly associated with degenerative changes, neural compression, and traumatic instability in intervertebral discs adjacent to fused vertebrae. Surgical intervention in patient with KFS largely involved posterior spinal fusions involving or adjacent to levels of congenital vertebral fusions.

Graphical abstract