Treacher—Collins氏综合征又名下颌颜面发育不全症,是以下颌骨及颧骨发育不全为特征,伴有眼、耳、听力、智力等先天异常的畸形综合征,此综合征是一种结构蛋白缺陷所致的遗传性疾病,呈常染色体显性遗传。本病以往的报道极少,而且都是散发病例,表型上存在着很大差异,因此怀疑是否为不同的疾病。1992年我们在湖南土家族一次健康调查中发现患本症的一个大家系,已繁衍四代15人患病,我们就先证者及其家系中一些成员的临床表型进行了观察和比较,并进行分析,总结报道如下: Treacher-Collins’s syndrome, also known as mandibular hypoplasia syndrome, is characterized by mandibular and zygomatic hypoplasia, congenital anomalies associated with ocular, aural, hearing, and mental disorders, which is a structure Genetic defects caused by protein defects, was autosomal dominant. The past few reports of this disease, and are sporadic cases, the phenotype there is a big difference, so we doubt whether it is a different disease. In 1992, when we found a large family with this disease in a Tujia nationality health survey in Hunan Province, we have multiplied four generations and 15 people, and we observed and compared the clinical phenotypes of probands and some members of his family. And analysis, summarized as follows: