A Case of Townes-Brocks Syndrome

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.

Townes-Brocks 증후군 1례

저자들은 항문 직장 기형, 손기형, 감각신경성 난청을 동반한 소이증, 일측성 신 무형성증을 증상으로 나타내고, 가족력이 없는 TBS 1례를 경험하였기에 보고하는 바이다.