European Journal of Pediatrics

, Volume 152, Issue 4, pp 331–333 | Cite as

Campomelic dysplasia — an underdiagnosed condition?

  • E. K. Normann
  • J. C. Pedersen
  • G. Stiris
  • C. B. van der Hagen
Medical Genetics


Campomelic dysplasia (CD) is a rare skeletal dysplasia. The incidence, reported in the literature, is 0.05–0.09 per 10000 live, births. During the period December 1985–December 1990 there were 18350 live births with 4 cases of CD at Aker University Hospital in Oslo, Norway. This gives an incidence of CD in our observation period of 2.2 per 10000. Eliminating our first case, because of Pakistani decent, the total incidence is 1.6 per 10000 among Norwegian infants which is much higher than the incidence previously mentioned. Perhaps CD is under-reported and a high proportion of patients remain undiagnosed. We present four cases and discuss the incidence.

Key words

Campomelic dysplasia Bone dysplasia Incidence 



campomelic dysplasia


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Copyright information

© Springer-Verlag 1993

Authors and Affiliations

  • E. K. Normann
    • 1
  • J. C. Pedersen
    • 3
  • G. Stiris
    • 2
  • C. B. van der Hagen
    • 3
  1. 1.Department of PaediatricsAker University HospitalOsloNorway
  2. 2.Department of RadiologyAker University HospitalOsloNorway
  3. 3.Department of Medical GeneticsUllevål University HospitalOsloNorway

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