E-ISSN 2146-8133
 

Case Report 


Oral and dental findings of Griscelli syndrome type 3

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

Abstract
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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How to Cite this Article
Pubmed Style

Akgun OM, Altun C, Polat GG, Yildirim C. Oral and dental findings of Griscelli syndrome type 3. Arch Clin Exp Surg. 2015; 4(3): 164-167. doi:10.5455/aces.20130226034218


Web Style

Akgun OM, Altun C, Polat GG, Yildirim C. Oral and dental findings of Griscelli syndrome type 3. http://www.ejmaces.com/?mno=31687 [Access: May 26, 2018]. doi:10.5455/aces.20130226034218


AMA (American Medical Association) Style

Akgun OM, Altun C, Polat GG, Yildirim C. Oral and dental findings of Griscelli syndrome type 3. Arch Clin Exp Surg. 2015; 4(3): 164-167. doi:10.5455/aces.20130226034218



Vancouver/ICMJE Style

Akgun OM, Altun C, Polat GG, Yildirim C. Oral and dental findings of Griscelli syndrome type 3. Arch Clin Exp Surg. (2015), [cited May 26, 2018]; 4(3): 164-167. doi:10.5455/aces.20130226034218



Harvard Style

Akgun, O. M., Altun, C., Polat, G. G. & Yildirim, C. (2015) Oral and dental findings of Griscelli syndrome type 3. Arch Clin Exp Surg, 4 (3), 164-167. doi:10.5455/aces.20130226034218



Turabian Style

Akgun, Ozlem Marti, Ceyhan Altun, Gunseli Guven Polat, and Ceren Yildirim. 2015. Oral and dental findings of Griscelli syndrome type 3. Archives of Clinical and Experimental Surgery (ACES), 4 (3), 164-167. doi:10.5455/aces.20130226034218



Chicago Style

Akgun, Ozlem Marti, Ceyhan Altun, Gunseli Guven Polat, and Ceren Yildirim. "Oral and dental findings of Griscelli syndrome type 3." Archives of Clinical and Experimental Surgery (ACES) 4 (2015), 164-167. doi:10.5455/aces.20130226034218



MLA (The Modern Language Association) Style

Akgun, Ozlem Marti, Ceyhan Altun, Gunseli Guven Polat, and Ceren Yildirim. "Oral and dental findings of Griscelli syndrome type 3." Archives of Clinical and Experimental Surgery (ACES) 4.3 (2015), 164-167. Print. doi:10.5455/aces.20130226034218



APA (American Psychological Association) Style

Akgun, O. M., Altun, C., Polat, G. G. & Yildirim, C. (2015) Oral and dental findings of Griscelli syndrome type 3. Archives of Clinical and Experimental Surgery (ACES), 4 (3), 164-167. doi:10.5455/aces.20130226034218





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