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文章基本信息

  • 标题:Premature craniosynostosis in a rare genetic disease- a case report.
  • 其他标题:Premature craniosynostosis in a rare genetic disease- a case report.
  • 作者:Hasnain Abbas Dharamshi ; Tufail Raza ; Ali Abbas Mohsin Ali
  • 期刊名称:Iranian Journal of Public Health
  • 印刷版ISSN:2251-6085
  • 电子版ISSN:2251-6093
  • 出版年度:2015
  • 卷号:44
  • 期号:3
  • 页码:404-6
  • 语种:English
  • 出版社:Tehran University of Medical Sciences
  • 摘要:Crouzon syndrome is a rare genetic disorder inherited in autosomal dominant pattern with complete penetration and variable expressivity. Its most notable characteristic feature is premature synostosis of cranial sutures The case presented is of a 4 yr old boy with box like head with microcephaly, protuberant eyes, hydrocephalus, low visual acquity diagnosed as a case of crouzon syndrome after clinical and radiological assessment.
  • 关键词:Autosomal dominant;Crouzon syndrome;Premature craniosynostosis
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