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 language||English (US)|
|Number of pages||4|
|Journal||American Journal of Medical Genetics|
|State||Published - Feb 15 2001|
- Peroxisomal disorder
ASJC Scopus subject areas