Abstract:
Family history and physical exam findings are often the first clues that prompt medical providers to consider clinical genetics evaluation. There is standardized nomenclature for both the pedigree and description of physical features. Systematic evaluation of patients through obtaining family history and careful physical examination is essential to the formulation of a differential diagnosis and plan in the clinical genetics evaluation. The goal of this article is to provide an overview of family history and dysmorphology exam, and their relevance for the clinical genetics evaluation.
摘要:
家族史和体检结果通常是促使医疗提供者考虑临床遗传学评估的第一个线索。对于谱系和物理特征的描述都有标准化的命名法。通过获得家族史和仔细的体格检查对患者进行系统评估对于临床遗传学评估中的鉴别诊断和计划的制定至关重要。本文的目的是概述家族史和形态学检查,以及它们与临床遗传学评估的相关性。