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KMID : 1189120080050020136
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대한의학유전학회지
2008 Volume.5 No. 2 p.136 ~ p.138
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Townes-Brocks Syndrome Associated with Hypothyroidism in a Korean Newborn : A Case Report
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Park Shin-Young
Lee Woo-Ryoung
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Abstract
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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 cases of TBS associated with hypothyroidism. We are reporting a case of TBS associated with hypothyroidism for the first time in Korea.
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KEYWORD
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Townes-Brocks syndrome, Hypothyroidism, Newborn
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