Campomelic dysplasia: A rare cause of congenital spinal deformity

Abstract

Campomelic dysplasia is a rare autosomal dominant syndrome that often results in congenital spinal deformity. As a result of improvements in respiratory care, some patients survive into childhood, requiring treatment of their spinal deformities. We present a neonate who was diagnosed with campomelic dysplasia, resulting in severe cervical and thoracic kyphoscoliosis and respiratory compromise. A review of the literature and reported treatment options are discussed. Campomelic dysplasia is a rare cause of congenital spinal deformity; however, intervention may be appropriate in certain patients. © 2009 Elsevier Ltd. All rights reserved.