Work

Imaging of Treacher Collins syndrome: A case report

Year: 2024

Type: article

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.

Source: Radiology Case Reports

DOI: 10.1016/j.radcr.2024.10.042

Authors: Abhikanta Khatiwada, Bikram Thapa, Raju Pandit, Dependra Bhandari, Sharada KC

Institutions: Tribhuvan University Teaching Hospital, Kathmandu Medical College Teaching Hospital, Nepalese Army Institute of Health Services

Language: English

Topic: Craniofacial Disorders and Treatments

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: gold

Estimated APC paid: $550