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The physical examination in clinical genetics

Part 1. Genetics

1.6. Genetic Medicine and Clinical Genetics

Basic Techniques and Approaches

  1. Marni J. Falk1,
  2. Nathaniel H. Robin2

Published Online: 15 APR 2005

DOI: 10.1002/047001153X.g106416

Encyclopedia of Genetics, Genomics, Proteomics and Bioinformatics

Encyclopedia of Genetics, Genomics, Proteomics and Bioinformatics

How to Cite

Falk, M. J. and Robin, N. H. 2005. The physical examination in clinical genetics. Encyclopedia of Genetics, Genomics, Proteomics and Bioinformatics. 1:1.6:79.

Author Information

  1. 1

    Case Western Reserve University School of Medicine, University Hospitals of Cleveland, Cleveland, OH, USA

  2. 2

    University of Alabama at Birmingham, Birmingham, AL, USA

Publication History

  1. Published Online: 15 APR 2005

Abstract

The genetics physical examination provides an objective tool that supplements medical and familial historical information in an effort to identify a unifying etiology for a child, fetus, or adult with multiple birth defects, developmental problems, or other abnormal findings present. The genetics examination, while similar to any general medical examination, has several facets that distinguish it. First, it is necessary to understand the art and science of “dysmorphology”, the study of abnormal form. Precise observation and accurate description, followed by careful collation, interpretation, and categorization of any physical differences present are required to reach an accurate genetic diagnosis. Here, we review the general principles and specific components of the genetic physical exam, as well as how to integrate the physical exam findings into the overall medical genetic evaluation.

Keywords:

  • dysmorphology;
  • congenital anomaly