PDF(Pubmed)
Abstract：
The advancement of genetic knowledge and the discovery of an increasing number of genetic disorders has made the role of the geneticist progressively more complex and fundamental. However, most genetic disorders present during childhood; thus, their early recognition is a challenge for the pediatrician, who will be also involved in the follow-up of these children, often establishing a close relationship with them and their families and becoming a referral figure. In this review, we aim to provide the pediatrician with a general knowledge of the approach to treating a child with a genetic syndrome associated with dysmorphic features. We will discuss the red flags, the most common manifestations, the analytic collection of the family and personal medical history, and the signs that should alert the pediatrician during the physical examination. We will offer an overview of the physical malformations most commonly associated with genetic defects and the way to describe dysmorphic facial features. We will provide hints about some tools that can support the pediatrician in clinical practice and that also represent a useful educational resource, either online or through apps downloaded on a smartphone. Eventually, we will offer an overview of genetic testing, the ethical considerations, the consequences of incidental findings, and the main indications and limitations of the principal technologies.
摘要：
遗传知识的进步和越来越多的遗传疾病的发现使遗传学家的角色逐渐变得更加复杂和基本。然而,大多数遗传性疾病存在于儿童时期；因此，他们的早期识别对儿科医生来说是一个挑战，他们也将参与这些孩子的后续行动，经常与他们和他们的家人建立密切的关系，并成为推荐人物。在这次审查中,我们的目标是为儿科医生提供与畸形特征相关的遗传综合征患儿的治疗方法的一般知识.我们将讨论危险信号，最常见的表现，家庭和个人病史的分析收集，以及在体检期间应该提醒儿科医生的迹象。我们将概述与遗传缺陷最常见的身体畸形以及描述畸形面部特征的方法。我们将提供一些工具的提示，这些工具可以在临床实践中支持儿科医生，也代表了有用的教育资源，无论是在线或通过智能手机上下载的应用程序。最终,我们将提供基因检测的概述，伦理考虑，偶然发现的后果，以及主要技术的主要适应症和局限性。
