title: 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.affiliation: Department of Pediatric Orthopaedic Surgery, Pontchaillou University Hospital, Rennes, France. pviolas@hotmail.com
authors.forename: Philippe
authors.initials: P
authors.lastname: Violas
authors.forename: Bernard
authors.initials: B
authors.lastname: Fraisse
authors.forename: Madeleine
authors.initials: M
authors.lastname: Chapuis
authors.forename: Henri
authors.initials: H
authors.lastname: Bracq
mesh_terms: D002574:Cervical Vertebrae / Q000473:pathology* / Q000601:surgery; D002675:Child, Preschool; D018902:Chondrodysplasia Punctata, Rhizomelic / Q000150:complications / Q000235:genetics / Q000473:pathology*; D019299:Decompression, Surgical / Q000379:methods; D005808:Genes, Recessive; D006801:Humans; D007796:Laminectomy; D008279:Magnetic Resonance Imaging; D008297:Male; D013116:Spinal Cord / Q000473:pathology*; D013117:Spinal Cord Compression / Q000209:etiology / Q000473:pathology / Q000601:surgery; D013130:Spinal Stenosis / Q000209:etiology / Q000473:pathology* / Q000601:surgery