Journal of the Korean Pediatric Society 2003;46(4):382-384.
Published online April 15, 2003.
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
Hye Sun Yoon, Email:
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

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