| CASE REPORT |
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| Year : 2012 | Volume
: 2
| Issue : 4 | Page : 577-580 |
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Treachear collins syndrome
Pratik Kumar Lahiri1, Gautam Kumar Kundu2, Subrata Sarkar2
1 Senior lecturer, Department of Pedodontics & Preventive Dentistry, Gurunanak Institute of Dental Science & Research, Kolkata, India
2 Professor, Department of Pedodontics & Preventive Dentistry, Gurunanak Institute of Dental Science & Research, Kolkata, India
Correspondence Address:
Dr. Pratik Kumar Lahiri
Senior lecturer, Department of Pedodontics & Preventive Dentistry, Gurunanak Institute of Dental Science & Research, Kolkata
India
 Source of Support: None, Conflict of Interest: None  | Check |
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Treacher Collins syndrome, also known as Treacher Collins-Franceschetti syndrome, or mandibulofacial dysostosis is a rare autosomal dominant congenital disorder characterized by craniofacial deformities. Treacher Collins syndrome is found in about 1 in 50,000 births.. It is named after Edward Treacher Collins who described its essential traits in 1900. The cause of Treacher Collins Syndrome is a genetic mutation. TCOF1 is the only gene currently known to be associated with TCS, a mutation in this gene being found in 90-95% of the individuals with TCS. Mutation analysis has unveiled more than 100 disease-causing mutations in TCOF1, which are mostly family specific mutations. |
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