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- Title
Gorlin–Goltz Syndrome: An Incidental Finding of a Rare Entity.
- Authors
Verma, Sugandha; Koppula, Sri Krishna; Nandi, Devarshi; Kumar, Vikas
- Abstract
Gorlin–Goltz syndrome (GGS) is a rare hereditary disease characterized by multiple basal cell carcinomas, odontogenic keratocyst (OKCs) and musculoskeletal malformations. Pathogenesis of the syndrome is attributed to abnormalities in the long arm of chromosome 9 (q22.3–q31) and mutations in the human patched gene (PTCH1 gene). Here, we report a rare case of an incidental finding of GGS in an 18-year-old male patient presenting multiple OKCs, calcification of the falx cerebri, and bifid rib.
- Subjects
BASAL cell nevus syndrome; GENETIC disorders; BASAL cell carcinoma; FIBRODYSPLASIA ossificans progressiva; HUMAN genes; ODONTOGENIC tumors
- Publication
Indian Journal of Otolaryngology & Head & Neck Surgery, 2024, Vol 76, Issue 1, p1255
- ISSN
2231-3796
- Publication type
Article
- DOI
10.1007/s12070-023-04252-9