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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Detalles Bibliográficos
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
Descripción
Sumario: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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