Greig Cephalopolysyndactyly Syndrome with Oral Manifestations: A Rare Case Report

Greig cephalopolysyndactyly syndrome (GCPS) is one of the autosomal dominant-inherited syndromes, caused by haploinsufficiency of the GLI3 gene. It is a rare, multiple congenital syndrome with an estimated rate of 0.009%. With the classic clinical triad of preaxial polydactyly with cutaneous syndact...

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Autores principales: Unni, Jiji V, Daryani, Deepak, Sreejan, K C, Uthkal, P M
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer - Medknow 2020
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7289203/
https://www.ncbi.nlm.nih.gov/pubmed/32566533
http://dx.doi.org/10.4103/ijabmr.IJABMR_391_18
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author Unni, Jiji V
Daryani, Deepak
Sreejan, K C
Uthkal, P M
author_facet Unni, Jiji V
Daryani, Deepak
Sreejan, K C
Uthkal, P M
author_sort Unni, Jiji V
collection PubMed
description Greig cephalopolysyndactyly syndrome (GCPS) is one of the autosomal dominant-inherited syndromes, caused by haploinsufficiency of the GLI3 gene. It is a rare, multiple congenital syndrome with an estimated rate of 0.009%. With the classic clinical triad of preaxial polydactyly with cutaneous syndactyly of at least one limb, hypertelorism, and macrocephaly, presumptive diagnosis of GCPS is made. The purpose of this article is to report a case of GCPS with emphasis on craniofacial and oral features.
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spelling pubmed-72892032020-06-19 Greig Cephalopolysyndactyly Syndrome with Oral Manifestations: A Rare Case Report Unni, Jiji V Daryani, Deepak Sreejan, K C Uthkal, P M Int J Appl Basic Med Res Case Report Greig cephalopolysyndactyly syndrome (GCPS) is one of the autosomal dominant-inherited syndromes, caused by haploinsufficiency of the GLI3 gene. It is a rare, multiple congenital syndrome with an estimated rate of 0.009%. With the classic clinical triad of preaxial polydactyly with cutaneous syndactyly of at least one limb, hypertelorism, and macrocephaly, presumptive diagnosis of GCPS is made. The purpose of this article is to report a case of GCPS with emphasis on craniofacial and oral features. Wolters Kluwer - Medknow 2020 2020-04-02 /pmc/articles/PMC7289203/ /pubmed/32566533 http://dx.doi.org/10.4103/ijabmr.IJABMR_391_18 Text en Copyright: © 2020 International Journal of Applied and Basic Medical Research http://creativecommons.org/licenses/by-nc-sa/4.0 This is an open access journal, and articles are distributed under the terms of the Creative Commons Attribution-NonCommercial-ShareAlike 4.0 License, which allows others to remix, tweak, and build upon the work non-commercially, as long as appropriate credit is given and the new creations are licensed under the identical terms.
spellingShingle Case Report
Unni, Jiji V
Daryani, Deepak
Sreejan, K C
Uthkal, P M
Greig Cephalopolysyndactyly Syndrome with Oral Manifestations: A Rare Case Report
title Greig Cephalopolysyndactyly Syndrome with Oral Manifestations: A Rare Case Report
title_full Greig Cephalopolysyndactyly Syndrome with Oral Manifestations: A Rare Case Report
title_fullStr Greig Cephalopolysyndactyly Syndrome with Oral Manifestations: A Rare Case Report
title_full_unstemmed Greig Cephalopolysyndactyly Syndrome with Oral Manifestations: A Rare Case Report
title_short Greig Cephalopolysyndactyly Syndrome with Oral Manifestations: A Rare Case Report
title_sort greig cephalopolysyndactyly syndrome with oral manifestations: a rare case report
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7289203/
https://www.ncbi.nlm.nih.gov/pubmed/32566533
http://dx.doi.org/10.4103/ijabmr.IJABMR_391_18
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