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Gorlin syndrome
Gorlin syndrome (ˈɡɔːlɪn) n1. (Pathology) a rare congenital disorder in which cancer destroys the facial skin and causes blindness; skeletal anomalies and some mental retardation can also occur2. (Medicine) a rare congenital disorder in which cancer destroys the facial skin and causes blindness; skeletal anomalies and some mental retardation can also occur[C20: named after R. J. Gorlin (1923–2006), US oral pathologist]EncyclopediaSeesyndromeGorlin syndrome
ba·sal cell ne·vus syn·drome [MIM*109400] a syndrome of myriad basal cell nevi with development of basal cell carcinomas in adult life, odontogenic keratocysts, erythematous pitting of the palms and soles, calcification of the cerebral falx, and frequently skeletal anomalies, particularly ribs that are bifid or broadened anteriorly; autosomal dominant inheritance, caused by mutation in the PTCH gene, the huma n homol ogue o f the "patched" gene of Drosophila on 9q. Synonym(s): Gorlin syndromeGorlin Syndrome Basal cell nevus syndrome, see there. ba·sal cell ne·vus syn·drome (bā'săl sel nē'vŭs sin'drōm) A syndrome of numerous basal cell nevi with development of basal cell carcinomas in adult life, odontogenic keratocysts, erythematous pitting of the palms and soles, calcification of the cerebral falx, and frequently skeletal anomalies, particularly ribs that are bifid or broadened anteriorly; autosomal dominant inheritance. Synonym(s): Gorlin syndrome. Gorlin syndrome A rare autosomal dominant genetic disorder featuring a strong predisposition to various tumours, especially multiple BASAL CELL CARCINOMAS; brain tumours; ovarian FIBROIDS; multiple cysts in the jawbone (mandible); MILIA; and skull and rib abnormalities. Thousands of skin tumours may be present. The condition is believed to be due to a mutation on chromosome 9 affecting tumour suppressor genes. (American oral pathologist Robert J. Gorlin, b. 1923).Gorlin, Robert James, U.S. oral pathologist, 1923–. Gorlin sign - unusual ease in touching the tip of the nose with the tongue.Gorlin syndrome - a syndrome of myriad basal cell nevi with development of basal cell carcinomas in adult life. Synonym(s): basal cell nevus syndromeGorlin-Chaudhry-Moss syndrome - craniofacial dysostosis, patent ductus arteriosus, hypertrichosis, hypoplasia of the labia majora, and dental and ocular abnormalities. |