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Saturday, 18 July 2009 10:20 |
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There are many features which may occur in Gorlin Syndrome, although most are rare. Some of the features are listed below.
Ophthalmic problems - in one study, ophthalmic problems affected 26% of people with the syndrome. They include squint (convergent strabismus), nystagmus, cataracts and underdevelopment of the eye (microphthalmia). Cleft lip and palate - about 5% of people with the syndrome have cleft lip and palate. Ovarian fibromas - calcified ovarian fibromas have been reported in 35 - 50% of women with the syndrome and may be mistaken for calcified uterine fibroids. They do not seem to reduce fertility but may undergo torsion (twist). There is no evidence that they should be removed prophylactically. Medulloblastoma - about 5% of individuals with the syndrome develop the childhood brain malignancy medulloblastoma. Peak incidence of medulloblastoma in Gorlin Syndrome is about two years of age compared to seven years. Treatments are available and there is a favourable prognosis. Children presenting with medulloblastoma need to be assessed for Gorlin Syndrome, particularly if they are under 5 years of age. As well as examining the child, a medical history and examination of the parents is advisable. |
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Last Updated on Wednesday, 12 August 2009 18:59 |
Written and produced by Professor P A Farndon, Clinical Geneticist, Jim Costello (deceased) & Margaret Costello, unless otherwise stated.
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