第１８番染色体短腕欠損症候群症例の側頭骨病理

• 大谷 巖

  福島労災病院

• 馬場 陽子

  福島県心身障害児総合療育センター 福島県立医科大学医学部耳鼻咽喉科学教室

• 鈴木 聡明

  公立藤田総合病院 福島県立医科大学医学部耳鼻咽喉科学教室

• 桑畑 直史

  福島県立医科大学医学部耳鼻咽喉科学教室

• 大森 孝一

  福島県立医科大学医学部耳鼻咽喉科学教室

書誌事項

タイトル別名

• Temporal bone histopathology in 18p- syndrome

抄録

The 18p- syndrome which is caused by partial or total deletion of the short arm of chromosome 18 presents multiple clinical features ranging from severe malformations in compatible with life, to mild physical abnormalities.<BR>There has been no report describing the temporal bone histopathology in the 18p- syndrome. This case is the first reported temporal bone histopathology in the 18p- syndrome.<BR>The female stillborn infant delivered at 25 weeks' gestation was applicable to the severe form of this syndrome. The histopathologic findings demonstrated relatively mild malformation of the ossicles, facial nerve and cochlea. Because of mild aural anomalies in the severe form of 18p- syndrome, and because of few clinical reports involving deafness, the possibility of severe aural anomalies or profound deafness associated with 18psyndrome seems to be slight, though this conclusion needs further investigation on cases of this syndrome.

収録刊行物

• Ｏｔｏｌｏｇｙ　Ｊａｐａｎ

  Ｏｔｏｌｏｇｙ　Ｊａｐａｎ 14 (5), 665-667, 2004

  一般社団法人　日本耳科学会

キーワード

• 18p-syndrome
• temporal bone
• histopathology
• malformation

詳細情報

• CRID: 1390001204769400960
• NII論文ID: 10025821209
• NII書誌ID: AN10358085
• DOI: 10.11289/otoljpn1991.14.665
• ISSN: 18841457
• ISSN: 09172025
• Web Site: https://search.jamas.or.jp/link/ui/2005110530
• 本文言語コード: ja
• データソース種別:
  • JaLC
  • CiNii Articles
  • KAKEN
• 抄録ライセンスフラグ: 使用不可