Klippel-Feil Syndrome Associated With Pneumatocyst of the Right Cervical Rib

Alpay Haktanir, MD; Bumin Degirmenci, MD; Ramazan Albayrak, MD; Murat Acar, MD; Aylin Yucel, MD


South Med J. 2005;98(11):1132-1134. 

In This Article

Abstract and Introduction

A patient with Klippel-Feil syndrome reported with a pneumatocyst of the proximal epiphysis of a right cervical rib. There was no additional skeletal abnormality except for fusion of the C3 and C4 vertebral bodies. To the best of our knowledge, this is the first reported instance of this particular association.

Klippel-Feil syndrome (KFS) is a congenital fusion of the cervical vertebrae that may involve two segments: a congenital block vertebra, or the entire cervical spine. Typically, KFS results from failure of the normal segmentation of the somites during weeks 3 to 8 of gestation. The prevalence of KFS is unknown, possibly because it is not often expressed clinically.

Although congenital segmentation defect or fusion of any of the cervical vertebral bodies is commonly referred to as KFS, this syndrome is a clinical and radiologic entity with numerous associated anomalies and a variety of complications including those of the cardiovascular, renal, and musculoskeletal systems. Cervical ribs have also occasionally been reported in the context of KFS.[1]

Pneumatization of calvarial and upper cervical bones is a rare entity that commonly results from habitual Valsalva maneuvers.[2] Some pathologic processes, including osteomyelitis, osteonecrosis, neoplasm, or trauma, can cause intraosseous gas collection. Pneumatocyst is another form of intraosseous gas collection that has been reported in the ilium, sacrum, and vertebrae[3,4,5] and yet is rarely found in other bones.[6,7] We present a case with cervical vertebral fusion at a single level associated with a pneumatocyst of the right cervical rib. To the best of our knowledge, this is the first reported instance of this particular association.


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