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Case report: Craniofrontonasal syndrome caused by a novel variant in the EFNB1 gene in a Colombian woman

Craniofrontonasal Syndrome is a very rare dominant X-linked genetic disorder characterized by symptoms such as hypertelorism, craniosynostosis, eye alterations, bifid nose tip, and longitudinal ridging and splitting of nails. Heterozygous females are usually the patients severely affected. To date,...

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Autores principales: Pachajoa, Harry, Vasquez-Forero, Diana Marcela, Giraldo-Ocampo, Sebastian
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9845254/
https://www.ncbi.nlm.nih.gov/pubmed/36685875
http://dx.doi.org/10.3389/fgene.2022.1092301
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author Pachajoa, Harry
Vasquez-Forero, Diana Marcela
Giraldo-Ocampo, Sebastian
author_facet Pachajoa, Harry
Vasquez-Forero, Diana Marcela
Giraldo-Ocampo, Sebastian
author_sort Pachajoa, Harry
collection PubMed
description Craniofrontonasal Syndrome is a very rare dominant X-linked genetic disorder characterized by symptoms such as hypertelorism, craniosynostosis, eye alterations, bifid nose tip, and longitudinal ridging and splitting of nails. Heterozygous females are usually the patients severely affected. To date, clinical or genetic data have not been published for these patients in Colombia. Here we report a female proband with coronal craniosynostosis, hypertelorism, strabismus, rotational nystagmus, high-arched palate, dental crowding, scoliosis, severe pectus excavatum, unilateral breast hypoplasia, and brachydactyly; diagnosed with Craniofrontonasal Syndrome with the novel heterozygous variant c.374A>C (p.Glu125Ala) in the EFNB1 gene. So far, she has been treated with physical therapy and surgical correction of the bifid nose and an umbilical hernia. To the best of our knowledge, this is the first report of a patient with this rare genetic disorder in Colombia, expanding its mutational spectrum and highlighting the importance of genetic evaluation of patients with craniosynostosis and facial dysmorphism.
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spelling pubmed-98452542023-01-19 Case report: Craniofrontonasal syndrome caused by a novel variant in the EFNB1 gene in a Colombian woman Pachajoa, Harry Vasquez-Forero, Diana Marcela Giraldo-Ocampo, Sebastian Front Genet Genetics Craniofrontonasal Syndrome is a very rare dominant X-linked genetic disorder characterized by symptoms such as hypertelorism, craniosynostosis, eye alterations, bifid nose tip, and longitudinal ridging and splitting of nails. Heterozygous females are usually the patients severely affected. To date, clinical or genetic data have not been published for these patients in Colombia. Here we report a female proband with coronal craniosynostosis, hypertelorism, strabismus, rotational nystagmus, high-arched palate, dental crowding, scoliosis, severe pectus excavatum, unilateral breast hypoplasia, and brachydactyly; diagnosed with Craniofrontonasal Syndrome with the novel heterozygous variant c.374A>C (p.Glu125Ala) in the EFNB1 gene. So far, she has been treated with physical therapy and surgical correction of the bifid nose and an umbilical hernia. To the best of our knowledge, this is the first report of a patient with this rare genetic disorder in Colombia, expanding its mutational spectrum and highlighting the importance of genetic evaluation of patients with craniosynostosis and facial dysmorphism. Frontiers Media S.A. 2023-01-04 /pmc/articles/PMC9845254/ /pubmed/36685875 http://dx.doi.org/10.3389/fgene.2022.1092301 Text en Copyright © 2023 Pachajoa, Vasquez-Forero and Giraldo-Ocampo. https://creativecommons.org/licenses/by/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
spellingShingle Genetics
Pachajoa, Harry
Vasquez-Forero, Diana Marcela
Giraldo-Ocampo, Sebastian
Case report: Craniofrontonasal syndrome caused by a novel variant in the EFNB1 gene in a Colombian woman
title Case report: Craniofrontonasal syndrome caused by a novel variant in the EFNB1 gene in a Colombian woman
title_full Case report: Craniofrontonasal syndrome caused by a novel variant in the EFNB1 gene in a Colombian woman
title_fullStr Case report: Craniofrontonasal syndrome caused by a novel variant in the EFNB1 gene in a Colombian woman
title_full_unstemmed Case report: Craniofrontonasal syndrome caused by a novel variant in the EFNB1 gene in a Colombian woman
title_short Case report: Craniofrontonasal syndrome caused by a novel variant in the EFNB1 gene in a Colombian woman
title_sort case report: craniofrontonasal syndrome caused by a novel variant in the efnb1 gene in a colombian woman
topic Genetics
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9845254/
https://www.ncbi.nlm.nih.gov/pubmed/36685875
http://dx.doi.org/10.3389/fgene.2022.1092301
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