Monteiro de Pina-Neto J
Am J Med Genet. 1984 May;18(1):147-52. doi: 10.1002/ajmg.1320180118.
This is a report on a child with sensorineural deafness, imperforate anus with rectovaginal fistula, hypoplastic thumb, and congenital heart defect. This pattern of congenital anomalies is similar to that described in patients with the Townes-Brocks syndrome, although the present patient has characteristics that have not been reported previously in this syndrome. It is proposed that the clinical spectrum of the Townes-Brocks syndrome must be extended to include congenital heart defect, auricular changes differing from those previously described, and anomalies of other internal organs. The syndrome is an autosomal dominant trait. The present case may represent a de novo mutation.
这是一份关于一名患有感音神经性耳聋、肛门闭锁伴直肠阴道瘘、拇指发育不全和先天性心脏缺陷儿童的报告。这种先天性异常模式与Townes-Brocks综合征患者中所描述的相似，尽管该患者具有此综合征先前未报道过的特征。有人提出，Townes-Brocks综合征的临床谱必须扩大，以包括先天性心脏缺陷、与先前描述不同的耳部变化以及其他内脏器官的异常。该综合征为常染色体显性性状。本病例可能代表一种新发突变。
