Abstract
Treacher Collins syndrome (TCS) is associated with abnormal differentiation of the first and second pharyngeal arches, occurring during fetal development. Features of TCS include microtia with conductive hearing loss, slanting palpebral fissures with possibly coloboma of the lateral part of lower eyelids, midface hypoplasia, micrognathia as well as sporadically cleft palate and choanal atresia or stenosis. TCS occurs in the general population at a frequency of 1 in 50,000 live births. Four subtypes of Treacher Collins syndrome exist. TCS can be caused by pathogenic variants in the TCOF1, POLR1D, POLR1C and POLR1B genes. Genetically, the TCOF1 gene contains 27 exons which encodes the Treacle protein. In TCOF1, over 200 pathogenic variants have been identified, of which most are deletions leading to a frame-shift, that result in the formation of a termination codon. In the presented article, we review the genetics and phenotype of TCS as well as the management and surgical procedures utilized for treatment.
Subject
Genetics (clinical),Genetics
Reference40 articles.
1. Note on a congenital defect colobomata of the lower lid;Berry;R. Lond. Ophthalmic. Hosp. Rep.,1889
2. Cases with symmetrical congenital notches in the outer part of each lower lid and defective development of malar bones;Collins;Trans. Ophthalmol. Soc. UK,1900
3. The mandibulofacial dysostosis; a new hereditary syndrome;Franceschetti;Acta Ophthalmol.,1949
4. Syndromes of the Head and Neck;Gorlin,1990
5. Treacher Collins syndrome
Cited by
16 articles.
订阅此论文施引文献
订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献