|
Sunday, 19 July 2009 13:23 |
|
Diagnostic criteria based on the most frequent and/or specific features of the syndrome are given in Journal of Medical Genetics, Volume 30, 1993, pages 460-464. and itemised below:
These criteria were based on examination of family cases in England, a land not noted for excessive sunlight. The numbers of BCCs acceptable as a major criterion will vary according to the climate, and will need adaptation for countries such as Australia. 2 MAJOR OR 1 MAJOR and 2 MINOR criteria | MAJOR CRITERIA | - (>2) basal cell carcinoma or one under 30 years, or 10 basal cell naevi
- any odotegenic keratocyst (jaw cyst) or polyostotic bone cyst
- palmar or planta pits (3 or more)
- ectopic calcification or early (<20yrs) falx calcification
- family history of Gorlin Syndrome (NBCCS)
| | MINOR CRITERIA | - congenital skeletal anomoly: bifid, fused, splayed or missing rib or bifid, wedged or fused vertebra
- cardiac and/or ovarian fibroma
- medullotblastoma
- lymphomesenteric cysts
- congenital malformation: cleft lip and/or palate, polydactyly, eye anomoly (cataract, colobma, microphtalmia, nystagmus)
|
It is worth noting that some of the symptoms listed under minor criteria are rare. See a Consultant if you have worries or concerns about any aspect of the condition. Contact us for further detail or advice about any aspect of the information outlined above.
|
|
Last Updated on Wednesday, 12 August 2009 19:03 |
Written and produced by Professor P A Farndon, Clinical Geneticist, Jim Costello (deceased) & Margaret Costello, unless otherwise stated.
The Gorlin Syndrome Group is a Registered Charity - No 1096361
© Gorlin Syndrome Group
