Cervical spine stenosis in chondrodysplasia punctata.

Abstract

Chondrodysplasia punctata (CDP) is a rare skeletal dysplasia characterized by stippled epiphyses during infancy. The frequency is probably underdiagnosed because of the large heterogeneity in this group. Many genotypic variations exist. Although cervical instability is commonly seen in many skeletal dysplasias, cervical spine stenosis associated with CDP is very rare. We report a boy with phenotypic features of brachytelephalangic chondrodysplasia punctata (BCDP) who had severe cervical spine stenosis successfully corrected by vertebrectomies of C6 and C7 with a fibular strut graft. We discuss the significance of this association.

• Authors: Philippe Violas, Bernard Fraisse, Madeleine Chapuis, Henri Bracq
• Journal: Journal of pediatric orthopedics. Part B (J Pediatr Orthop B) Vol. 16 Issue 6 Pg. 443-5 (Nov 2007) ISSN: 1473-5865 [Electronic] United States
• PMID: 17909344 (Publication Type: Case Reports, Journal Article)

Topics

• Cervical Vertebrae (pathology, surgery)
• Child, Preschool
• Chondrodysplasia Punctata, Rhizomelic (complications, genetics, pathology)
• Decompression, Surgical (methods)
• Genes, Recessive
• Humans
• Laminectomy
• Magnetic Resonance Imaging
• Male
• Spinal Cord (pathology)
• Spinal Cord Compression (etiology, pathology, surgery)
• Spinal Stenosis (etiology, pathology, surgery)