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A Possible Incomplete Form of Treacher Collins Syndrome: A Case Report

Treacher Collins syndrome (TCS) is a rare genetic disorder that affects craniofacial development due to malformation of the first and second branchial arches. The TCOF1 gene is mainly responsible for this condition. Here, we present a case of a 13-year-old adolescent girl with complaints of maligned...

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Autores principales: Tarang, Tanmay, Vagha, Keta, Kiran, Adithya, Singh, Kushagra
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cureus 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9650923/
https://www.ncbi.nlm.nih.gov/pubmed/36381924
http://dx.doi.org/10.7759/cureus.30203
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author Tarang, Tanmay
Vagha, Keta
Kiran, Adithya
Singh, Kushagra
author_facet Tarang, Tanmay
Vagha, Keta
Kiran, Adithya
Singh, Kushagra
author_sort Tarang, Tanmay
collection PubMed
description Treacher Collins syndrome (TCS) is a rare genetic disorder that affects craniofacial development due to malformation of the first and second branchial arches. The TCOF1 gene is mainly responsible for this condition. Here, we present a case of a 13-year-old adolescent girl with complaints of maligned teeth with conductive deafness. On clinical examination, she had retrognathia, a broad nose, maligned teeth, a high arch palate, and midfacial hypoplasia. On the basis of the clinical findings, a diagnosis of a mild-variant TCS was made as eyes were not involved and supportive treatment was given to the patient. The symptoms of the disease have a varying range of severity. Early diagnosis and supportive treatments, which include multidisciplinary treatment involving pediatrics, otolaryngologists, audiologists, orthodontists, and psychologists, are very important for the management of such cases.
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spelling pubmed-96509232022-11-14 A Possible Incomplete Form of Treacher Collins Syndrome: A Case Report Tarang, Tanmay Vagha, Keta Kiran, Adithya Singh, Kushagra Cureus Pediatrics Treacher Collins syndrome (TCS) is a rare genetic disorder that affects craniofacial development due to malformation of the first and second branchial arches. The TCOF1 gene is mainly responsible for this condition. Here, we present a case of a 13-year-old adolescent girl with complaints of maligned teeth with conductive deafness. On clinical examination, she had retrognathia, a broad nose, maligned teeth, a high arch palate, and midfacial hypoplasia. On the basis of the clinical findings, a diagnosis of a mild-variant TCS was made as eyes were not involved and supportive treatment was given to the patient. The symptoms of the disease have a varying range of severity. Early diagnosis and supportive treatments, which include multidisciplinary treatment involving pediatrics, otolaryngologists, audiologists, orthodontists, and psychologists, are very important for the management of such cases. Cureus 2022-10-11 /pmc/articles/PMC9650923/ /pubmed/36381924 http://dx.doi.org/10.7759/cureus.30203 Text en Copyright © 2022, Tarang et al. https://creativecommons.org/licenses/by/3.0/This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
spellingShingle Pediatrics
Tarang, Tanmay
Vagha, Keta
Kiran, Adithya
Singh, Kushagra
A Possible Incomplete Form of Treacher Collins Syndrome: A Case Report
title A Possible Incomplete Form of Treacher Collins Syndrome: A Case Report
title_full A Possible Incomplete Form of Treacher Collins Syndrome: A Case Report
title_fullStr A Possible Incomplete Form of Treacher Collins Syndrome: A Case Report
title_full_unstemmed A Possible Incomplete Form of Treacher Collins Syndrome: A Case Report
title_short A Possible Incomplete Form of Treacher Collins Syndrome: A Case Report
title_sort possible incomplete form of treacher collins syndrome: a case report
topic Pediatrics
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9650923/
https://www.ncbi.nlm.nih.gov/pubmed/36381924
http://dx.doi.org/10.7759/cureus.30203
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