書誌事項
- タイトル別名
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- A Pedigree of Waardenburg's Syndrome in a Japanese Family
- Waardenburg ショウコウグン ノ 1 カケイ ニ ツイテ
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説明
Waardenburg described in 1951 the syndrome with which his name is associated.<br>The main components of the syndrome are:<br>1) Dystopia canthi medialis lateroversa<br>2) Hyperplasia radicis nasi<br>3) Hyperplasia supercilii medialis<br>4) Poliosis—White forelock<br>5) Heterochromia iridum<br>6) Unilateral or bilateral neural deafness<br>Waardenburg's syndrome is inherited as a Mendelian dominant but the various features are not always found together in any given case, according to the penetrance and expressivity of the genes.<br>In this case, a 4 year old boy has pale blue eyes without any other eye anomalies and in our E. N. T. clinic, he was also found to have a congenital neural deafness on the right side, by E. R. A. system.<br>In addetion, he also had the characteristics of 1) and 3) listed above.<br>The latter 2 characteristics were also evident in the grandmother, mother and one of the uncles.<br>They do not, however, show any other anomalies.<br>This syndrome is considered to be transmitted through the maternal genes.
収録刊行物
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- 耳鼻咽喉科臨床
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耳鼻咽喉科臨床 72 (12), 1599-1608, 1979
耳鼻咽喉科臨床学会
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詳細情報 詳細情報について
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- CRID
- 1390001204268790784
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- NII論文ID
- 130001815057
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- NII書誌ID
- AN00107089
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- ISSN
- 18844545
- 00326313
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- NDL書誌ID
- 2205264
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- データソース種別
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- JaLC
- NDL
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