[Hearing loss in Townes-Brocks syndrome].
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.
Rodríguez Asensio
J
J
Servicio de Otorrinolaringología, Hospital de Jarrio, Asturias. jrodriguezasensio@seorl.net
Rodríguez Rosell
M V
MV
Ramos Pérez
A
A
D000015:Abnormalities, Multiple / Q000235:genetics; D000293:Adolescent; D000328:Adult; D001006:Anus, Imperforate / Q000235:genetics; D004431:Ear, External / Q000002:abnormalities*; D005260:Female; D005532:Foot Deformities, Congenital / Q000235:genetics; D006228:Hand Deformities, Congenital / Q000235:genetics; D006312:Hearing Loss, Bilateral / Q000175:diagnosis* / Q000235:genetics; D006319:Hearing Loss, Sensorineural / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D008297:Male; D010375:Pedigree; D013577:Syndrome