European Journal of Pediatrics

, Volume 166, Issue 4, pp 327–331

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

  • Arnaud Garnier
  • Stéphane Dauger
  • Danièle Eurin
  • Ida Parisi
  • Giancarlo Parenti
  • Catherine Garel
  • Katy Delbecque
  • Clarisse Baumann
Original Paper


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.


Neonate Prenatal diagnosis Spinal cord Magnetic resonance Brachytelephalangic chondrodysplasia punctata 



brachytelephalangic chondrodysplasia punctata


magnetic resonance imaging


arylsulfatase E




weeks of gestation


Neonatal intensive care unit


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Copyright information

© Springer-Verlag 2006

Authors and Affiliations

  • Arnaud Garnier
    • 1
  • Stéphane Dauger
    • 1
  • Danièle Eurin
    • 2
  • Ida Parisi
    • 3
  • Giancarlo Parenti
    • 3
  • Catherine Garel
    • 4
  • Katy Delbecque
    • 5
  • Clarisse Baumann
    • 6
  1. 1.Pediatric Intensive Care Unit, Service de RéanimationAP-HP, Hôpital Robert Debré, and Université Paris VII, Faculté de Médecine Denis Diderot, IFR02ParisFrance
  2. 2.Pediatric Imaging DepartmentHôpital Charles NicolleRouenFrance
  3. 3.Department of PediatricsFederico II UniversityNaplesItaly
  4. 4.Pediatric Imaging DepartmentAP-HP, Hôpital Robert-Debré, and Université Paris VII, Faculté de Médecine Denis Diderot, IFR02ParisFrance
  5. 5.Department of FoetopathologyAP-HP, Hôpital Robert Debré, and Université Paris VII, Faculté de Médecine Denis Diderot, IFR02ParisFrance
  6. 6.Department of Clinical Genetics AP-HP, Hôpital Robert Debré, and Université Paris VII, Faculté de Médecine Denis Diderot, IFR02ParisFrance

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