Cervical stenosis secondary to rhizomelic chondrodysplasia punctata

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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.

Original languageEnglish (US)
Pages (from-to)63-66
Number of pages4
JournalAmerican journal of medical genetics
Volume99
Issue number1
DOIs
StatePublished - Feb 15 2001

Keywords

  • Dysplasia
  • MRI
  • Myelopathy
  • Peroxisomal disorder
  • RCDP
  • Spine

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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