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Case Report
A family with Townes-Brocks syndrome with congenital hypothyroidism and a novel mutation of the SALL1 gene
Won Ik Choi, Ji Hye Kim, Han Wook Yoo, Sung Hee Oh
Clin Exp Pediatr. 2010;53(12):1018-1021.   Published online December 31, 2010

Townes-Brocks syndrome (TBS) is a rare autosomal dominant congenital disorder caused by mutations in the SALL1 gene. Its signs and symptoms overlap with other genetic syndromes, including VACTERL association, Pendred syndrome, Baller-Gerold syndrome, and cat eye syndrome. Structural vertebral abnormalities, hypoplasia of the thumb, and radial bone abnormalities, which are not usually associated with TBS, help in the differential diagnosis...

A Case of Townes-Brocks Syndrome
Hong Seop So, Hyun Ju Choi, Hye Sun Yoon, Jin Soon Hwang, Keun Chan Sohn
Clin Exp Pediatr. 2003;46(4):382-384.   Published online April 15, 2003
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...


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