• Users Online: 18306
  • Home
  • Print this page
  • Email this page
Home About us Editorial board Ahead of print Current issue Search Archives Submit article Instructions Subscribe Contacts Login 
CASE REPORT
Year : 2012  |  Volume : 2  |  Issue : 4  |  Page : 577-580

Treachear collins syndrome


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
Login to access the Email id

Source of Support: None, Conflict of Interest: None


Rights and PermissionsRights and Permissions

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.


[PDF]*
Print this article     Email this article
 Next article
 Previous article
 Table of Contents

 Similar in PUBMED
   Search Pubmed for
   Search in Google Scholar for
 Related articles
 Citation Manager
 Access Statistics
 Reader Comments
 Email Alert *
 Add to My List *
 * Requires registration (Free)
 

 Article Access Statistics
    Viewed3061    
    Printed173    
    Emailed0    
    PDF Downloaded60    
    Comments [Add]    

Recommend this journal