Pierre Robin sequence を伴った1型耳・口蓋・指症候群の兄弟例 Two brothers who had oto-palato-digital syndrome type 1 with Pierre Robin sequence

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著者

    • 高尾 香名 TAKAO Kana
    • 大阪府立母子保健総合医療センター口腔外科 Department of Oral and Maxillofacial Surgery, Osaka Medical Center and Research Institute for Maternal and Child Health
    • 横田 祐介 YOKOTA Yusuke
    • 大阪大学大学院歯学研究科顎口腔病因病態制御学講座 Division of Pathogenesis and Dentistry, Osaka University
    • 小原 浩 [他] KOHARA Hiroshi
    • 大阪府立母子保健総合医療センター口腔外科 Department of Oral and Maxillofacial Surgery, Osaka Medical Center and Research Institute for Maternal and Child Health
    • 西尾 順太郎 NISHIO Juntaro
    • 大阪府立母子保健総合医療センター口腔外科 Department of Oral and Maxillofacial Surgery, Osaka Medical Center and Research Institute for Maternal and Child Health

抄録

Oto-palato-digital syndrome (OPD syndrome) is a rare but well-defined disorder first described by Taybi in 1962. It is characterized by skeletal dysplasia of the hands and feet, hearing loss, and cleft palate. We report two cases of OPD syndrome type 1 with Pierre Robin sequence. The patients were brothers, and their signs and symptoms were similar. They had U-shaped cleft palate, micrognathia, anomalies of the hands and feet, and a characteristic facial appearance. Their mother and their mother's grandmother had similar facial characteristics, and their mother's brother had cleft palate and deformities of the hands and feet.<BR>The patients had airway problems in the neonatal period, but airway distress improved with growth. At the age of 1 year, we performed palatoplasty. Neither patient has deafness or mental retardation. Their speech is normal, with good velar mobility.<BR>The elder brother had bronchostenosis caused by a vascular ring. The right aortic arch was therefore divided at the age of 3 years.

収録刊行物

  • 日本口腔外科学会雑誌  

    日本口腔外科学会雑誌 52(8), 449-452, 2006-08-20 

    Japanese Society of Oral and Maxillofacial Surgeons

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各種コード

  • NII論文ID(NAID)
    10018859443
  • NII書誌ID(NCID)
    AN00189163
  • 本文言語コード
    JPN
  • 資料種別
    NOT
  • ISSN
    00215163
  • NDL 記事登録ID
    8071833
  • NDL 雑誌分類
    ZS44(科学技術--医学--歯科学・口腔外科学)
  • NDL 請求記号
    Z19-145
  • データ提供元
    CJP書誌  NDL  J-STAGE 
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