All issues > Volume 46(4); 2003

Case Report

J Korean Pediatr Soc. 2003;46(4):382-384. Published online April 15, 2003.

A Case of Townes-Brocks Syndrome

Hong Seop HS So¹, Hyun Ju HJ Choi¹, Hye Sun HS Yoon¹, Jin Soon JS Hwang¹, Keun Chan KC Sohn¹

¹Department of Pediatrics, Eulji Hospital, Seoul, Korea

Correspondence Hye Sun HS Yoon ,Email: yhs3211@eulji.or.kr

Abstract

Townes-Brocks syndrome is an uncommon autosomal dominant condition first described by Townes and Brocks in 1972. We experienced a newborn female who presented with clinical findings of Townes-Brocks syndrome in an otherwise unaffected family. The patient showed the full spectrum of anomalies including anterior placed anus, triphalangeal thumb, preaxial polydactyly, pre-auricular tags, microtia without opening, sensorineural hearing loss and unilateral renal agenesis.

Keywords :Townes-Brocks syndrome