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Gorlin-Goltz syndrome with situs oppositus
Author(s) -
Yadavalli Guruprasad,
Prashanth R Prabhu
Publication year - 2010
Publication title -
national journal of maxillofacial surgery
Language(s) - English
Resource type - Journals
eISSN - 2229-3418
pISSN - 0975-5950
DOI - 10.4103/0975-5950.69167
Subject(s) - nevoid basal cell carcinoma syndrome , medicine , falx cerebri , basal cell nevus syndrome , penetrance , dermatology , basal cell , pathology , basal cell carcinoma , gene , phenotype , genetics , biology
Gorlin-Goltz syndrome, also known as nevoid basal cell carcicoma syndrome, is caused due to a genetic alteration produced by a mutation in the "Patched" tumor suppressor gene, and it is inherited in a dominant autosomal way, though sporadic cases have been found. This syndrome shows a high penetrance and variable expressiveness. It is a multisystemic process that is characterized by the presence of multiple pigmented basocellular carcinomas, keratocysts in the jaws, palmar and/or plantar pits and calcification of the falx cerebri. Together with these major features, a great number of processes considered as minor features have also been described. The latter include numerous skeletal, dermatology related and neurological anomalies, among others. In some occasions, the presence of very aggressive basocellular carcinomas has been described as well as other malignant neoplasia. Due to the importance of oral maxillofacial manifestations of this syndrome, it is fundamental to know its characteristics in order to make a diagnosis, to provide an early preventive treatment and to establish right genetic advice. We report a rare association of Gorlin-Goltz syndrome with situs oppositus.

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