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  1. 学術雑誌論文
  2. その他
  1. 部局別インデックス
  2. 医学部

A Case of Cornelia de Lange Syndrome : Difficulty in Prenatal Diagnosis

http://hdl.handle.net/20.500.12000/46945
http://hdl.handle.net/20.500.12000/46945
6e23e880-de99-4370-a736-882408fcd993
名前 / ファイル ライセンス アクション
4530491.pdf 4530491.pdf
Item type デフォルトアイテムタイプ(フル)(1)
公開日 2020-10-12
タイトル
タイトル A Case of Cornelia de Lange Syndrome : Difficulty in Prenatal Diagnosis
言語 en
作成者 Kinjo, Tadatsugu

× Kinjo, Tadatsugu

en Kinjo, Tadatsugu

Mekaru, Keiko

× Mekaru, Keiko

en Mekaru, Keiko

Nakada, Miyuki

× Nakada, Miyuki

en Nakada, Miyuki

Nitta, Hayase

× Nitta, Hayase

en Nitta, Hayase

Masamoto, Hitoshi

× Masamoto, Hitoshi

en Masamoto, Hitoshi

Aoki, Yoichi

× Aoki, Yoichi

en Aoki, Yoichi

アクセス権
アクセス権 open access
アクセス権URI http://purl.org/coar/access_right/c_abf2
権利情報
言語 en
権利情報 Creative Commons Attribution 4.0
言語 en
権利情報Resource https://creativecommons.org/licenses/by/4.0/
権利情報 https://creativecommons.org/licenses/by/4.0/
内容記述
内容記述タイプ Other
内容記述 We report a case of Cornelia de Lange syndrome (CdLS) where prenatal diagnosis was not made even with major anomaly. A 33-year-old Japanese woman was referred to our institution at 23 weeks of gestation because of fetal forearm defect. Ultrasound examination revealed short forearms and short humeri and femurs (–2.1 SD). The fetal estimated body weight was 450 g (–1.3 SD). Fetal MRI at 26 weeks of gestation revealed short forearms and hypoplasty of hand fingers. Fetal growth restriction became evident thereafter, leading to intrauterine fetal death occurring at 29 weeks of gestation. A stillbirth baby was of 798 g in body weight and 33.0 cm in length. External examination showed a low hairline, synophrys, low-set ear, hypertrichosis, and smooth long philtrum with thin lips. The neck appeared short and broad. Finally, CdLS was diagnosed. The prenatal diagnosis might be possible as the arm findings were totally characteristic in a small fetus, regardless of whether an overhanging upper lip was identified. Because CdLS is a rare condition, it is important to consider its possibility as a part of differential diagnosis.
内容記述タイプ Other
内容記述 論文
出版者
言語 en
出版者 Hindawi
言語
言語 eng
資源タイプ
資源タイプ journal article
資源タイプ識別子 http://purl.org/coar/resource_type/c_6501
出版タイプ
出版タイプ VoR
出版タイプResource http://purl.org/coar/version/c_970fb48d4fbd8a85
識別子
識別子 http://hdl.handle.net/20.500.12000/46945
識別子タイプ HDL
関連情報
関連識別子
識別子タイプ DOI
関連識別子 https://doi.org/10.1155/2019/4530491
収録物識別子
収録物識別子タイプ ISSN
収録物識別子 2090-6684
収録物識別子タイプ ISSN
収録物識別子 2090-6692
収録物名
言語 en
収録物名 Case Reports in Obstetrics and Gynecology
書誌情報
巻 2019
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