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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 splic Keywords: . [Download Article] [Download Certifiate] |