In this chapter, we present an overview of Apert syndrome, its epidemiology, and characteristic findings, including craniosynostosis, midfacial hypoplasia, and syndactyly. We introduce systemic findings of Apert syndrome, including those affecting the respiratory, neurologic, ophthalmologic, and other organ systems. This information permits a fundamental understanding of the health issues associated with Apert syndrome as well as complements the specific topics conveyed in the other chapters of this and subsequent sections. Despite all of the physical manifestations covered in these chapters, we emphasize that individuals with Apert syndrome are first people who define who they are and their well-being.

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Introduction

  • Jay G. Berry,
  • Michael L. Cunningham

摘要

In this chapter, we present an overview of Apert syndrome, its epidemiology, and characteristic findings, including craniosynostosis, midfacial hypoplasia, and syndactyly. We introduce systemic findings of Apert syndrome, including those affecting the respiratory, neurologic, ophthalmologic, and other organ systems. This information permits a fundamental understanding of the health issues associated with Apert syndrome as well as complements the specific topics conveyed in the other chapters of this and subsequent sections. Despite all of the physical manifestations covered in these chapters, we emphasize that individuals with Apert syndrome are first people who define who they are and their well-being.