Journal of Genetic Medicine
- Volume 5 Issue 2
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- Pages.136-138
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- 2008
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- 1226-1769(pISSN)
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- 2383-8442(eISSN)
Townes-Brocks Syndrome Associated with Hypothyroidism in a Korean Newborn : A Case Report
- Park, Shin-Young (Department of Pediatrics, School of Medicine, Soonchunhyang University) ;
- Lee, Woo-Ryoung (Department of Pediatrics, School of Medicine, Soonchunhyang University)
- Received : 2008.08.11
- Accepted : 2008.09.24
- Published : 2008.12.01
Abstract
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 증후군은 이형성 귀, 청력 상실, preaxial polydactyly, triphalangeal thumbs, 쇄항, 신기형, 선천성 심질환, 정신 지체 등을 동반하는 다기형의 상염색체 우성 유전질환이다. 그러나 갑상선 기능저하증은 Townes-Brocks 증후군의 흔한 특징은 아니다. 현재까지 갑상선 기능저하증과 동반된 Townes-Brocks 증후군은 3례가 보고된 바 있다. 저자들은 한국에서 최초로 갑상선 기능저하증과 동반된 Townes-Brocks 증후군 1례를 보고한다.