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

Abstract

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 

Abbreviation

CD

campomelic dysplasia

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References

  1. 1.
    Bricarelli FD, Fraccaro M, Lindsten J, Müller U, Baggio P, Carbone LDL, Hjerpe A, Lindgren F, Mayerova A, Ringertz H, Ritzén EM, Rovetta DC, Sicchero C, Wolf U (1981) Sexreversed XY females with campomelic dysplasia are H-Y negative. Hum Genet 57: 15–22Google Scholar
  2. 2.
    Cooke CT, Mulcahy MY, Cullity GJ, Watson M, Sprague P (1985) Campomelic dysplasia with sex reversal: Morphological and cytogenetic studies of a case. Pathology 17: 526–529Google Scholar
  3. 3.
    Fryns JP, Berghe K van den, Assche A van, Berghe H van den (1981) Prenatal diagnosis of campomelic dwarfism. Clin Genet 19: 199–201Google Scholar
  4. 4.
    Hall BD, Spranger JW (1980) Campomelic dysplasia. Am J Dis Child 134: 285–289Google Scholar
  5. 5.
    Houston CS, Opitz JM, Spranger JW, Macpherson RI, Reed MH, Gilbert EF, Herrmann J, Schinzel A (1983) The campomelic syndrome: review, report of 17 cases, and follow-up on the currently 17-year-old boy first reported by Maroteaux et al in 1971. Am J Med Genet 15: 3–28Google Scholar
  6. 6.
    Lee FA, Isaacs H, Strauss J (1972) The “campomelic” syndrome. Am J Dis Child 124: 485–496Google Scholar
  7. 7.
    Maroteaux P, Spranger J, Opitz JM, Kucera J, Lowry RB, Schimke RN, Kagan SM (1971) Le syndrome campomélique. La Presse Medicale 25: 1157–1162Google Scholar
  8. 8.
    Orioli JM, Castilla EE, Barbosa-Neto JG (1986) The birth prevalence rates for the skeletal dysplasias. J Med Genet 23: 328–332Google Scholar
  9. 9.
    Stoll C, Dott B, Roth M-P, Alembik Y (1989) Birth prevalence rates of skeletal dysplasias. Clin Genet 35: 88–92Google Scholar

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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