Clinical and radiological characteristics in individuals with Treacher Collins Syndrome: case reports

Abstract

Treacher Collins Syndrome is an autosomal dominant craniofacial malformation (CTS) that occurs when the TCOF1 gene (5q32-q33.1) suffers a mutation. Its incidence is estimated at 1/50,000 births and it presents manifestations in soft and hard tissues. Methods: Six individuals diagnosed with CTS, were referred from the Asociación Treacher Collins México AC, for pre-surgical imaging studies. Objective: To describe the clinical, radiographic, and morphometric characteristics of individuals with this condition. Results: There are not enough studies in which specific patterns are determined in the same individual, and even when they are compared with each other, so it is necessary to establish protocols for their management. Conclusions: The clinical characteristics of the individual with CTS vary according to the severity of genetic expression, which can be corroborated with photographs, radiographic images, and morphometric measurements that will guide us in the management and planning of treatment.