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Sunday, 19 July 2009 13:51

Diagnosis is vital for subsequent surveillance for complications such as basal cell carcinomas (BCCs) and jaw cysts, and for giving genetic information.

Families should be offered regular screening, ideally with one clinician or genetic department monitoring and co-ordinating the care.

During pregnancy 

 

  • Most babies with Gorlin Syndrome have large heads and so may need assistance in delivery either by forceps or by Caesarean section. an ultrasound scan may help in predicting this
Neonatal physical examination

 

  • When the baby is born, it may be apparent that he or she has a larger than average head circumference which would raise the suspicion that the baby has inherited the condition. In these cases X-rays may confirm bifid ribs or vertebral anomalies.
Childhood

 

  • Annual dental screening should commence from about 8 years for the detection and early treatment of jaw cysts. There is also a need for at least annual surveillance from the specialist taking responsibility for the treatment of skin.
Adults

 

  • Should inspect their skin regularly.                                                                                                                               
  • Annual surveillance of the skin by a Plastic Surgeon or Dermatologist is recommended.                                                      
  • Dental screening should continue into adult life, its frequency depending on the findings of each X-ray. New jaw cysts seem to slow after the middle thirties. It is unusual (but not impossible) for cysts to appear after this age.
Last Updated on Sunday, 19 July 2009 20:41
 


  Written and produced by Professor P A Farndon, Clinical Geneticist, Jim Costello (deceased) & Margaret Costello, unless otherwise stated.

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