Rodríguez Asensio J, Rodríguez Rosell M V, Ramos Pérez A
Servicio de Otorrinolaringología, Hospital de Jarrio, Asturias.
Acta Otorrinolaringol Esp. 2003 Aug-Sep;54(7):518-22. doi: 10.1016/s0001-6519(03)78444-1.
In nineteen seventy two Towns and Brocks reported on a family in which the father and seven children showed anal atresia, triphalangeal thumb, metatarsal synostosis, extra fingers, neurosensorial deafness and ear abnormalities. The main traits were those related to hand, ear and anus alterations, transmitted under a dominant autosomal pattern. In this paper we present several members of the same family with similar alterations who finally were diagnosed of Townes-Brocks syndrome.
1972年，汤姆斯（Towns）和布罗克斯（Brocks）报道了一个家族，该家族中的父亲和七个孩子表现出肛门闭锁、拇指三指节、跖骨融合、多指、神经性耳聋和耳部异常。主要特征是与手部、耳部和肛门改变相关的特征，以常染色体显性模式遗传。在本文中，我们介绍了同一家族中几名有类似改变的成员，他们最终被诊断为汤姆斯-布罗克斯综合征。
