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European Journal of Pediatrics

, Volume 164, Issue 3, pp 126–130 | Cite as

Early recognition of basal cell naevus syndrome

  • Hermine E. Veenstra-Knol
  • Jan H. Scheewe
  • Gerrit J. van der Vlist
  • Menno E. van Doorn
  • Margreet G. E. M. AusemsEmail author
Original Paper

Abstract

The basal cell naevus syndrome is an autosomal dominant syndrome characterised by major manifestations such as basal cell carcinomas, jaw cysts, palmar or plantar pits, and intracranial calcifications. Early recognition is important in order to reduce morbidity due to cutaneous and cerebral malignancy and oromaxillofacial deformation and destruction, although diagnosis in infancy is rare. We describe three unrelated children with basal cell naevus syndrome who appeared to be the first patient in each family. Conclusion: Our observations lead us to recommend looking for other manifestations of this disease in patients who present with cardiac fibroma, cleft lip/palate, polydactyly or macrocephaly. Bifid, fused or splayed ribs should be considered a major criterion of great help in establishing a diagnosis, particularly in young children.

Keywords

Bifid ribs Ectopic calcification Gorlin syndrome Macrocephaly Polydactyly 

Abbreviation

BCNS

basal cell naevus syndrome

Notes

Acknowledgements

The authors thank Dr. A. E. Bale, Department of Genetics, Yale University School of Medicine, New Haven, USA, for performing DNA studies in case 1 and Dr. J. J. P. Gille, Department of Clinical Genetics, Free University, Amsterdam, The Netherlands for the DNA studies in cases 2 and 3. The authors also thank Jackie Senior for her help in preparing the manuscript.

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Copyright information

© Springer-Verlag 2004

Authors and Affiliations

  • Hermine E. Veenstra-Knol
    • 1
  • Jan H. Scheewe
    • 2
  • Gerrit J. van der Vlist
    • 3
  • Menno E. van Doorn
    • 4
  • Margreet G. E. M. Ausems
    • 5
    Email author
  1. 1.Department of Clinical GeneticsUniversity Hospital GroningenGroningen The Netherlands
  2. 2.Department of PaediatricsIJsselland HospitalCapelle a/d IJssel The Netherlands
  3. 3.Department of PaediatricsDiakonessenhuisUtrecht The Netherlands
  4. 4.Department of Maxillo-Facial SurgeryGelre HospitalApeldoorn The Netherlands
  5. 5.Department of Medical GeneticsWilhelmina Children’s Hospital, KC.04.084.2,University Medical Centre Utrecht The Netherlands

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