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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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Formato: | Online Artículo Texto |
Lenguaje: | English |
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Frontiers Media S.A.
2023
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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. |
format | Online Article Text |
id | pubmed-9845254 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2023 |
publisher | Frontiers Media S.A. |
record_format | MEDLINE/PubMed |
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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