Coffin-Siris syndrome: a case report

Authors

DOI:

https://doi.org/10.33448/rsd-v11i15.37637

Keywords:

Coffin-Siris syndrome; CSS; Fifth digit syndrome; Onychodysplasia of dwarfism; Partial dysgenesis of the corpus callosum; Exome.

Abstract

Coffin-Siris syndrome is a genetic condition caused by mutations in genes that are responsible for encoding components of the BAF complex, causing hypoplasia or aplasia of the fifth finger phalanx, coarse facial appearance, developmental delay, intellectual retardation, sparse hair, hypotonia, cardiac and brain abnormalities, among other characteristics. In this sense, the objective of this article is to present a case report on the progression of the diagnosis of Coffin-Siris Syndrome (CSS), where the initial signs and symptoms can be imprecise to make the diagnosis, being necessary to resort to genetic tests for the diagnosis. confirmation of the syndrome.

Author Biographies

Vanessa Catto Gritti, Universidade Alto Vale do Rio do Peixe

Acadêmica do Curso de Medicina da Universidade Alto Vale do Rio do Peixe - UNIARP.

Murilo Henrique Vieira, Universidade Alto Vale do Rio do Peixe

Acadêmico do Curso de Medicina da Universidade Alto Vale do Rio do Peixe - UNIARP.

Viviane Dorgievicz, Universidade Alto Vale do Rio do Peixe

Acadêmica do Curso de Medicina da Universidade Alto Vale do Rio do Peixe - UNIARP.

Maria Aparecida Marques Habermann, Universidade Alto Vale do Rio Peixe

Médica, Pedriatra. Núcleo de Ciências da Saúde. Curso de Medicina. Universidade Alto Vale do Rio do Peixe - UNIARP.

Emyr Hiago Bellaver, Universidade Alto Vale do Rio do Peixe

Biomédico, Farmacêutico. Mestre em Ciência e Biotecnologia. Núcleo de Ciências da Saúde. Curso de Medicina da Universidade Alto Vale do Rio do Peixe – UNIARP.

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Published

23/11/2022

How to Cite

GRITTI, V. C. .; VIEIRA, M. H. .; DORGIEVICZ, V. .; HABERMANN, M. A. M.; BELLAVER, E. H. Coffin-Siris syndrome: a case report. Research, Society and Development, [S. l.], v. 11, n. 15, p. e467111537637, 2022. DOI: 10.33448/rsd-v11i15.37637. Disponível em: https://rsdjournal.org/index.php/rsd/article/view/37637. Acesso em: 9 feb. 2023.

Issue

Section

Health Sciences