Literature DB >> 25756016

Clinical spectrum of Treacher Collins syndrome.

Divya Mehrotra1, Mahdi Hasan2, Rahul Pandey3, Sumit Kumar3.   

Abstract

Treacher Collins syndrome (TCS) is the most common of the human mandibulofacial dysostosis disorders. It is an autosomal-dominant disorder of the craniofacial development occurring between the fifth and the eighth weeks of embryonic development with an incidence of 1/50,000 live births, range between 1-40,000 and 1-70,000. We present here the various clinical, radiographical and other diagnostic findings of the TCS to correlate the clinical assessment with the diagnostic imaging and review the various investigations and management options being carried out to improve their facial deformity.

Entities:  

Keywords:  Bite force; TCOF1; Treacher Collins syndrome; missing zygomatic arch

Year:  2011        PMID: 25756016      PMCID: PMC3942135          DOI: 10.1016/S2212-4268(11)60009-2

Source DB:  PubMed          Journal:  J Oral Biol Craniofac Res        ISSN: 2212-4268


  1 in total

1.  Identification of a novel TCOF1 mutation in a Chinese family with Treacher Collins syndrome.

Authors:  Zhiqiang Yan; Yu Lu; Yanfei Wang; Xiuju Zhang; Hong Duan; Jing Cheng; Huijun Yuan; Dongyi Han
Journal:  Exp Ther Med       Date:  2018-07-16       Impact factor: 2.447

  1 in total

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