MICROTIA IN TREACHER COLLINS SYNDROME: A REVIEW ARTICLE
DOI:
https://doi.org/10.21460/bikdw.v10i2.1058Keywords:
microtia, treacher collins syndrome, mandibulofacial dysostosis, conductive hearing lossAbstract
Introduction: Treacher Collins Syndrome (TCS) is a condition affecting the development of facial structures. TCS presents with variable clinical manifestations and can impact the quality of life of those affected. Early identification and diagnosis are crucial management planning and intervention.
Objective: To understand the embryology, genetic abnormalities, and manifestations of TCS which would facilitate the diagnosis.
Methods: A narrative review of the literature published between 2010 and 2024. The literature search was conducted using the keywords "Treacher Collins Syndrome" and related terms (embryology, epidemiology, diagnosis) across academic databases such as PubMed, Google Scholar, and ScienceDirect.
Result: From the 116 articles identified, a review was conducted on 23 publications deemed relevant and appropriate to the topic. Treacher Collins Syndrome (TCS), also known as Mandibulofacial Dysostosis, is a genetic disorder affecting facial structures, characterized by variable clinical manifestations. TCS has impact on the quality of life of those affected. It is inherited in an autosomal dominant manner and involves mutations in the TCOF1, POLR1D, POLR1C or POLR1B genes, which disrupts the development of the pharyngeal arches during embryogenesis. Microtia and conductive hearing loss are otology manifestations of TCS. TCS is diagnosed based on clinical manifestations, along with genetic confirmation.
Conclusion: Identification and diagnosis of Treacher Collins Syndrome (TCS) are crucial for planning management and interventions that can improve the patient's quality of life.
Keywords: microtia, Treacher Collins syndrome, mandibulofacial dysostosis, conductive hearing los
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