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Case Reports
. 2007 Apr;166(4):327-31.
doi: 10.1007/s00431-006-0239-4. Epub 2006 Aug 26.

Brachytelephalangic chondrodysplasia punctata with severe spinal cord compression: report of four new cases

Arnaud Garnier  1 , Stéphane Dauger, Danièle Eurin, Ida Parisi, Giancarlo Parenti, Catherine Garel, Katy Delbecque, Clarisse Baumann
Affiliations
Case Reports

Brachytelephalangic chondrodysplasia punctata with severe spinal cord compression: report of four new cases

Arnaud Garnier et al. Eur J Pediatr. 2007 Apr.

Abstract

Brachytelephalangic chondrodysplasia punctata (CDPX1, OMIM: #302950) is a rare congenital skeletal dysplasia caused by arylsulfatase E deficiency (OMIM: #300180). Although the symptoms are usually mild, severe spinal cord compression by dysplastic vertebras may develop. We report four new cases with severe cervical spinal canal narrowing documented by radiography, magnetic resonance imaging (MRI), and autopsy. In all, nine cases of CDPX1 with severe cervical spinal cord compression have now been described. Because these cases account for a large proportion of all reported CDPX1 cases, we believe that an antenatal suspicion of CDPX1 should lead to genetic counseling and to investigations for spinal cord compression. After birth, this complication must be routinely anticipated, and we suggest spinal MRI in all CDPX1 infants. Unless spinal cord compression is confidently ruled out, we recommend that these newborns receive the same care as trauma patients suspected of craniocervical junction disruption.

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