Campomelic dysplasia--an underdiagnosed condition?

Eur J Pediatr. 1993 Apr;152(4):331-3. doi: 10.1007/BF01956747.


Campomelic dysplasia (CD) is a rare skeletal dysplasia. The incidence, reported in the literature, is 0.05-0.09 per 10,000 live births. During the period December 1985-December 1990 there were 18,350 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 10,000. Eliminating our first case, because of Pakistani decent, the total incidence is 1.6 per 10,000 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.

Publication types

  • Case Reports

MeSH terms

  • Dwarfism / diagnosis
  • Dwarfism / epidemiology*
  • Female
  • Humans
  • Incidence
  • Infant, Newborn
  • Norway / epidemiology