| A Case of Townes-Brocks Syndrome |
|
Hong Seop So, Hyun Ju Choi, Hye Sun Yoon, Jin Soon Hwang, Keun Chan Sohn |
|
Department of Pediatrics, Eulji Hospital, Seoul, Korea |
| Townes-Brocks 증후군 1례 |
|
소홍섭, 최현주, 윤혜선, 황진순, 손근찬 |
|
을지병원 소아과 |
Correspondence:
Hye Sun 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. |
| Key Words:
Townes-Brocks syndrome |
|
PDF Links
Download Citation
