J Korean Pediatr Soc.
2003 Apr;46(4):382-384.
A Case of Townes-Brocks Syndrome
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- 1Department of Pediatrics, Eulji Hospital, Seoul, Korea. 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.
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