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Case Report

Oral and dental findings of Griscelli syndrome type 3

Ozlem Marti Akgun, Ceyhan Altun, Gunseli Guven Polat, Ceren Yildirim.

Griscelli syndrome (GS) is a rare autosomal recessive genetic disorder characterized by variable immunodeficiency, partial albinism, abnormal accumulation of melanosomes in melanocytes, pigmentary dilution of the skin, and shiny silver-gray hair. GS has three types, with the first and second types caused by mutations in two genes being located at band 15q21: RAB27A and MYO5A. The expression of the third form of GS is restricted to the characteristic hypopigmentation of GS, and results from mutation in the gene that encodes melanophilin MLPH. It has also been shown that an identical phenotype can result from the deletion of the MYO5A F-exon. The aim of this case report is the presentation of oral and dental features and SEM images of the hair of a 12-year-old girl with GS type 3.

Key words: Griscelli syndrome, microdontia, genetic mutation

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