title: Cervical stenosis secondary to rhizomelic chondrodysplasia punctata.
abstract: Rhizomelic chondrodysplasia punctata (RCDP) is a rare peroxisomal disorder leading to multiple developmental malformations, including skeletal deformity. Specifically, involvement of the vertebral bodies has been described. Presented here is a case of a two-year-old female child with RCDP leading to advanced cervical stenosis as detected on magnetic resonance imaging (MRI) studies of the cervical spine. The practicing clinician should be aware of the possibility of cervical stenosis secondary to RCDP and its impact on the management of the patient with this rare disease process.
authors.affiliation: Department of Orthopaedic Surgery, The Johns Hopkins Hospital, Bayview Medical Center, 4940 Eastern Ave., Baltimore, MD 21224-2780, USA.
authors.forename: A J
authors.initials: AJ
authors.lastname: Khanna
authors.forename: N E
authors.initials: NE
authors.lastname: Braverman
authors.forename: D
authors.initials: D
authors.lastname: Valle
authors.forename: P D
authors.initials: PD
authors.lastname: Sponseller
mesh_terms: D002574:Cervical Vertebrae / Q000473:pathology; D002675:Child, Preschool; D018902:Chondrodysplasia Punctata, Rhizomelic / Q000150:complications* / Q000473:pathology; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging; D013115:Spinal Canal / Q000473:pathology; D013130:Spinal Stenosis / Q000209:etiology* / Q000473:pathology