Hirschsprung 病を併発した van der Woude 症候群の1例 A case of van der Woude syndrome with Hirschsprung disease

この論文にアクセスする

この論文をさがす

著者

    • 藤原 久子 FUJIHARA Hisako
    • 東京大学医学部附属病院顎口腔外科・歯科矯正歯科 Department of Oral-Maxillofacial Surgery, Dentistry and Orthodontics. The University of Tokyo Hospital
    • 米原 啓之 YONEHARA Yoshiyuki
    • 東京大学医学部附属病院顎口腔外科・歯科矯正歯科 Department of Oral-Maxillofacial Surgery, Dentistry and Orthodontics. The University of Tokyo Hospital
    • 西條 英人 [他] SAIJO Hideto
    • 東京大学医学部附属病院顎口腔外科・歯科矯正歯科 Department of Oral-Maxillofacial Surgery, Dentistry and Orthodontics. The University of Tokyo Hospital
    • 森 良之 MORI Yoshiyuki
    • 東京大学医学部附属病院顎口腔外科・歯科矯正歯科 Department of Oral-Maxillofacial Surgery, Dentistry and Orthodontics. The University of Tokyo Hospital
    • 引地 尚子 HIKIJI Hisako
    • 東京大学医学部附属病院顎口腔外科・歯科矯正歯科 Department of Oral-Maxillofacial Surgery, Dentistry and Orthodontics. The University of Tokyo Hospital
    • 高戸 毅 TAKATO Tsuyoshi
    • 東京大学医学部附属病院顎口腔外科・歯科矯正歯科 Department of Oral-Maxillofacial Surgery, Dentistry and Orthodontics. The University of Tokyo Hospital

抄録

We report a case of van der Woude syndrome associated with Hirschsprung disease. The patient was delivered vaginally. Our department was consulted because of cleft lip and palate (CLCP). After cheiloplasty, the department of pediatric surgery was consulted because of continuous vomiting. Hirschsprung disease was diagnosed.<BR>Hirschsprung disease occurs in 1/5, 000 live births and is caused by defective development of embryonic neural crest cells at the vagal level, leading to intestinal obstruction. The patients show severe vomiting and constipation, but owing to improved surgical techniques, the number of curable patients is increasing. Our patient received radical treatment and has no difficulty in eating or excretion at present.<BR>Several reports have described patients with CLCP and Hirschsprung disease, and all have had mental retardation. Moreover, there are several syndromes associated with both CLCP and Hirschsprung disease, such as Goldberg-Shprintzen syndrome, Waardenburg syndrome, and Smith-Lemli-Opitz syndrome. Each syndrome has their own differential diagnosis, but our patient did not meet the diagnostic criteria. We gave our patient a diagnosis of van der Woude syndrome combined with Hirschsprung disease for the present.<BR>However, mental retardation cannot be ruled our in this patient, and he might have other congenital malformations that have not been identified. If so, he may have a subtype of a syndromic disease.

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(4), 234-237, 2006-04-20 

    Japanese Society of Oral and Maxillofacial Surgeons

参考文献:  19件

参考文献を見るにはログインが必要です。ユーザIDをお持ちでない方は新規登録してください。

各種コード

  • NII論文ID(NAID)
    10018860067
  • 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
    7941672
  • 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 
ページトップへ