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作为业余遗传学家的颅面外科医生。

The craniofacial surgeon as amateur geneticist.

作者信息

Mulliken John B

机构信息

Craniofacial Center and Division of Plastic Surgery, Children's Hospital, Harvard Medical School, 300 Longwood Avenue, Boston, MA 02115, USA.

出版信息

J Craniofac Surg. 2002 Jan;13(1):3-17. doi: 10.1097/00001665-200201000-00002.

Abstract

Craniofacial surgeons, by nature and training, focus on how to correct anomalies rather than on why they occur. Surgeons often leave diagnosis and etiopathogenic speculation to geneticists. Craniofacial surgeons should cross over the specialty line and learn to think like geneticists. This article reviews definitions of basic words in the genetic language and emphasizes the three diagnostic levels, phenotypic, pathogenic, and genetic, for the principal categories of craniofacial anomalies. Whenever possible, examples are given to illustrate how genetic knowledge can influence surgical strategy. As a member of the perinatal team, the craniofacial surgeon must be "cyber-savvy" to counsel parents and communicate with geneticists.

摘要

从本质和培训经历来讲,颅面外科医生专注于如何矫正异常,而非异常为何发生。外科医生常常将诊断和病因推测留给遗传学家。颅面外科医生应跨越专业界限,学会像遗传学家一样思考。本文回顾了遗传学语言中基本词汇的定义,并强调了颅面异常主要类别的三个诊断层面,即表型、致病和基因层面。只要有可能,就会给出例子来说明遗传学知识如何影响手术策略。作为围产期团队的一员,颅面外科医生必须“精通网络”,以便为父母提供咨询并与遗传学家沟通。

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