口蓋裂を伴った Kniest dysplasia の1例 A case of Kniest dysplasia with cleft palate

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著者

    • 松沢 祐介 MATSUZAWA Yusuke
    • 北海道大学大学院歯学研究科口腔病態学講座口腔顎顔面外科学教室 Department of Oral and Maxillofacial Surgery, Graduate School of Dental Medicine, Hokkaido University
    • 三古谷 忠 MIKOYA Tadashi
    • 北海道大学大学院歯学研究科口腔病態学講座口腔顎顔面外科学教室 Department of Oral and Maxillofacial Surgery, Graduate School of Dental Medicine, Hokkaido University
    • 齋藤 豪紀 [他] SAITOU Hidenori
    • 北海道大学大学院歯学研究科口腔病態学講座口腔顎顔面外科学教室 Department of Oral and Maxillofacial Surgery, Graduate School of Dental Medicine, Hokkaido University
    • 山本 栄治 YAMAMOTO Eiji
    • 北海道大学大学院歯学研究科口腔病態学講座口腔顎顔面外科学教室 Department of Oral and Maxillofacial Surgery, Graduate School of Dental Medicine, Hokkaido University
    • 伊藤 裕美 ITOU Yumi
    • 北海道大学大学院歯学研究科口腔病態学講座口腔顎顔面外科学教室 Department of Oral and Maxillofacial Surgery, Graduate School of Dental Medicine, Hokkaido University
    • 戸塚 靖則 TOTSUKA Yasunori
    • 北海道大学大学院歯学研究科口腔病態学講座口腔顎顔面外科学教室 Department of Oral and Maxillofacial Surgery, Graduate School of Dental Medicine, Hokkaido University

抄録

Kniest dysplasia is a rare heritable chondrodysplasia. Its etiology is thought to involve mutations in COL2A1, the gene for collagen type II. Characteristic clinical features include short-trunk dwarfism, joint contracture, flat nose, kyphoscoliosis, myopia, and deafness. Cleft palate is frequently associated with this disease. Radiographically, platyspondyly and coronal cleft are seen in the vertebral bodies of newborns and young infants. The tubular bones are short and their ends are wide.<BR>A 5-month-old boy with Kniest dysplasia was referred to Hokkaido University Hospital because of poor suckling and cleft palate. A Hotz type plate was applied to improve feeding problems. The patient was weaned, and a gastric feeding tube was removed 5 months after plate application. Because speech development was delayed, he underwent palatoplasty at the age of 2 years 8 months. After surgery, there were no maladaptative speech patterns due to poor nasopharyngeal function. As for development of the facial skeleton, growth of the anterior cranial base was severely lmited. The cranial base angle was flattened, and the maxilla and mandible were retropositioned relative to the anterior cranial base. However, the antero-posterior relation of the jaws was normal.

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 53(2), 83-87, 2007-02-20 

    Japanese Society of Oral and Maxillofacial Surgeons

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各種コード

  • NII論文ID(NAID)
    10018858387
  • 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
    8722387
  • 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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