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Apert syndrome (AS), alternatively known as Acrocephalocyndactyly type II, is an uncommon congenital condition resulting from fibroblast growth factor receptor 2 (FGFR2) gene mutations (Anderson et al. 1998). Although most reported patients with AS are de novo, autosomal dominant (AD) inheritance has been documented in some of the case report studies.

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Apert Syndrome

  • 动态工具书词条

  • 发表日期：

    2026年

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  • Sheida Pourdadash Miri,
  • Amirreza Mazloomi,
  • Kiarash Saleki,
  • Abdolrahman S. Nateri

摘要

Apert syndrome (AS), alternatively known as Acrocephalocyndactyly type II, is an uncommon congenital condition resulting from fibroblast growth factor receptor 2 (FGFR2) gene mutations (Anderson et al. 1998). Although most reported patients with AS are de novo, autosomal dominant (AD) inheritance has been documented in some of the case report studies.