Clinical and Radiological Evaluation of Franceschetti Syndrome (Treacher Collins Syndrome): A Rare Case Report

Abstract

Franceschetti Syndrome is an autosomal dominant disorder of craniofacial development with variable expressivity. It affects structures which are derivatives of the first and second brachial arches. It has a characteristic facial appearance as a result of hypoplasia of facial bones, accompanied by ear, eye and nose abnormalities and positive coloboma sign. This article describes clinical and radiographic features of this syndrome in a 22 year old male who reported to our department with the complaint of pain in his left upper back and right lower back tooth region showing incomplete clinical form of Franceschetti syndrome. Also pathogenesis, diagnosis, prevention, management are discussed.

Keywords

• Coloboma sign
• franceschetti syndrome
• treacher collins syndrome