GORLIN’S SYNDROME: CASE REPORT AND MANAGEMENT PROTOCOL
Rosti RO1,*, Aktas I2, Kayserili H1, Yalcın S2
*Corresponding Author: Dr. Rasim O. Rosti, Department of Medical Genetics, Istanbul Medical Faculty, Istanbul University, 34390 Capa, Istanbul, Turkey; Tel./Fax: +90-212-534-84-40; E-mail: ozgurrosti@yahoo. com
page: 61

INTRODUCTION

Gorlin’s syndrome (GS, MIM #109400) is an autosomal, dominantly inherited syndrome that shows high penetrance and variable expression. Its prevalence is estimated to be 1 in 40,000 [1]. First described by Gorlin and Goltz [2], the cardinal manifestations are multiple basal cell carcinomas, odontogenic keratocysts, palmar or plantar pits and ectopic calcifications [3]. The syndrome is caused by mutations in a tumor suppressor gene, PTCH1 (patched), which is located on 9q22.3. It encodes a trans membrane protein that represses transcription in specific cells of genes encoding members of the TGF-β and Wnt families of signaling proteins [4].
Here we describe a 14 year-old girl with GS and propose a management protocol.
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1 Department of Medical Genetics, Istanbul Medical Faculty, Istanbul University, Istanbul, Turkey
2 Department of Oral Surgery, Faculty of Dentistry, Istanbul University, Istanbul, Turkey



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