Increased frontonasal angle and surface area of mandibular antegonial notch; reliable signs of Treacher Collins syndrome

Abstract

Background: Treacher Collin Syndrome is one of the most disfiguring congenital anomalies of the face, the visible part of the human body used for the identification of an individual. It is an inherited disorder in which there are bilateral symmetric anomalies of the structures within the first and second branchial arches. In general, there is complete penetrance and variable expressivity of the trait. Increased frontonasal angle and deep antegonial notch are syndrome specific characteristic distinguishing Treacher Collin Syndrome from other Syndromes. Main objectives of the presenting this case are to evaluate the validity of the aforementioned clinical signs for the diagnosis and to find out the significance of the surface area of antegonial notch in patient suffering from Treacher Collins syndrome. Methods: Persons of two generations of a family effected with Treacher Collins syndrome were examined for two cardinal signs traditionally associated with this disorder along with the normal siblings of the second generation for the above parameters. Conclusion: Significantly increased fronto nasal angle, frontal sinus area and deep antegonial notch was found in the father and son exhibiting characteristic signs of Treacher Collins-Franceschetti Syndrome in comparison to normal individuals of the family.