J Genet Med.  2008 Dec;5(2):136-138.

Townes-Brocks Syndrome Associated with Hypothyroidism in a Korean Newborn: A Case Report

  • 1Department of Pediatrics, School of Medicine, Soonchunhyang University, Seoul, Korea. neolee@hosp.sch.ac.kr


Townes-Brocks syndrome (TBS) is an autosomal dominant disorder with multiple malformations which include dysplastic ears, hearing loss, preaxial polydactyly and/or triphalangeal thumbs, imperforate anus, renal anomalies, congenital heart defects, and mental retardation. However, hypothyroidism is not a common feature of TBS. There have been only three reported cases of TBS associated with hypothyroidism. We report the first case of TBS associated with hypothyroidism in Korea.


Townes-Brocks syndrome; Hypothyroidism; Newborn
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