Abstract

A RARE CASE OF TREACHER COLLINS SYNDROME – CASE REPORT

Dr. Arun Kumar S. Bilodi*, Venkatesh Karthekeyan and Dr. M.R. Gangadhar

ABSTRACT

Treacher Collins syndrome (TCS) is a congenital disorder of rare variety giving rise to craniofacial deformities[1][3] having incidences of 1 in 50,000[2][4] births. It is also known as Treacher Collins–Franceschetti syndrome[3],[1] or mandibulofacial dysostosis[4] It was English surgeon and ophthalmologist by name Edward Treacher Collins (1862–1932) who studied essential traits of this syndrome in 1900.[5] Later Adolphe Franceschetti and David Klein in 1949 made a study & their own observations. Later they named as it as Mandibulofacial dysostosis[6]., TCOF1 is the gene said to be associated with Treacher Collins syndrome. Mutation of TCOF1 gene is found in 90-95% of patients suffering from Treacher Collins syndrome[7,8] The majority of mutations are deletions or insertions, though splicsite and missense mutations have been identified.[7,9,10,11] In this syndrome, there may be conductive hearing loss, zygoma is under developed. There may be slanting of eyes, small lower jaw known Micrognothia, there may be drooping of lateral part of eye lid, there may be absence of ears or presence of malformed ears, It was Edward Treacher Collins]1862-1932] an English surgeon and ophthalmologist in 1900 studied the esssantial traits of this syndrome.[5] Later in 1949, Adolphe Franceschetti and David Klein did their study on this syndrome and made their own observations. They named this syndrome as Mandibulofacial Dystosis[6] The gene associated with Treacher Collin Syndrome is the TCOF1. In 90-95% of patients who are suffering from Treacher Collin Syndrome, there is mutation of this gene TCOF1.[7,8]

Keywords: .