A Case of Townes-Brocks Syndrome.
- Author:
Hong Seop SO
1
;
Hyun Ju CHOI
;
Hye Sun YOON
;
Jin Soon HWANG
;
Keun Chan SOHN
Author Information
1. Department of Pediatrics, Eulji Hospital, Seoul, Korea. yhs3211@eulji.or.kr
- Publication Type:Case Report
- Keywords:
Townes-Brocks syndrome
- MeSH:
Anal Canal;
Female;
Hearing Loss, Sensorineural;
Humans;
Infant, Newborn;
Polydactyly;
Thumb
- From:Journal of the Korean Pediatric Society
2003;46(4):382-384
- CountryRepublic of Korea
- Language:Korean
-
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.
