Imaging of Treacher Collins syndrome: A case report

Abstract

Treacher Collins syndrome, also known as mandibulofacial dysostosis, is a rare congenital disorder affecting craniofacial development. It is caused by an autosomal dominant mutation, primarily in the TCOF1 gene, which impacts the development of the first and second branchial arches. We present the case of a 12-year-old male with bilateral conductive hearing loss and deformed ears, whose clinical and imaging findings were consistent with Treacher Collins syndrome. Imaging revealed microtia, atresia of the external auditory canals, and hypoplastic middle ear structures. Additionally, facial abnormalities such as retrognathia, hypoplastic zygomatic bones, and a cleft palate were identified. This case underscores the crucial role of imaging in diagnosing Treacher Collins syndrome and guiding multidisciplinary management strategies.