Clinical and Experimental Pediatrics
- 제46권4호
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- Pages.382-384
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- 2003
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- 2713-4148(eISSN)
Townes-Brocks 증후군 1례
A Case of Townes-Brocks Syndrome
- So, Hong Seop (Department of Pediatrics, Eulji Hospital) ;
- Choi, Hyun Ju (Department of Pediatrics, Eulji Hospital) ;
- Yoon, Hye Sun (Department of Pediatrics, Eulji Hospital) ;
- Hwang, Jin Soon (Department of Pediatrics, Eulji Hospital) ;
- Sohn, Keun Chan (Department of Pediatrics, Eulji Hospital)
- 투고 : 2002.09.16
- 심사 : 2002.10.31
- 발행 : 2003.04.15
초록
저자들은 항문 직장 기형, 손기형, 감각신경성 난청을 동반한 소이증, 일측성 신 무형성증을 증상으로 나타내고, 가족력이 없는 TBS 1례를 경험하였기에 보고하는 바이다.
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.