Ciancia Silvia, Madeo Simona Filomena, Calabrese Olga, Iughetti Lorenzo
Pediatric Unit, Department of Medical and Surgical Sciences for Mothers, Children and Adults, University of Modena and Reggio Emilia, Largo del Pozzo 71, 41124 Modena, Italy.
Medical Genetics Unit, Department of Medical and Surgical Sciences for Mothers, Children and Adults, University of Modena and Reggio Emilia, 41124 Modena, Italy.
Children (Basel). 2024 May 10;11(5):578. doi: 10.3390/children11050578.
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.
随着遗传学知识的进步以及越来越多的遗传性疾病被发现，遗传学家的角色变得日益复杂且至关重要。然而，大多数遗传性疾病在儿童期出现；因此，早期识别这些疾病对儿科医生来说是一项挑战，儿科医生还将参与这些儿童的后续治疗，通常会与他们及其家人建立密切关系，并成为一个转诊人物。在这篇综述中，我们旨在为儿科医生提供有关治疗患有与畸形特征相关的遗传综合征儿童的一般知识。我们将讨论警示信号、最常见的表现、家族和个人病史的分析性收集，以及体格检查期间应提醒儿科医生注意的体征。我们将概述最常与遗传缺陷相关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，并且无论是在线还是通过下载到智能手机上的应用程序，都代表着一种有用的教育资源。最后，我们将概述基因检测、伦理考量、偶然发现的后果以及主要技术的主要适应症和局限性。
