Article
Treacher Collins syndrome: Clinical report and retrospective analysis of Chinese patients.
Molecular genetics & genomic medicine - 1 Feb 2021
Pan Zhaoyu, Xu Hongen, Chen Bei, Tian Yongan, Zhang Linlin, Zhang Sen, Liu Danhua, Liu Huanfei, Li Ruijun, Hu Xinxin, Guan Jingyuan, Tang Wenxue, Lu Wei
Abstract excerpt
BACKGROUND: Treacher Collins syndrome-1 (TCS1; OMIM# 154500) is a rare autosomal dominant disease that is defined by congenital craniofacial dysplasia. Here, we report four sporadic and one familial case of TCS1 in Chinese patients with clinical features presenting as hypoplasia of the zygomatic complex and mandible, downslanting palpebral fissures, coloboma of the lower eyelids, and conductive hearing loss....
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