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An introduction to standardized clinical nomenclature for dysmorphic features: the Elements of Morphology project

Leslie G Biesecker

Author Affiliations

Genetic Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA

BMC Medicine 2010, 8:56  doi:10.1186/1741-7015-8-56

Published: 4 October 2010


Human structural malformations (anomalies or birth defects) have an enormous and complex range of manifestations and severity. The description of these findings can be challenging because the variation of many of the features is continuous and only some of them can be objectively assessed (that is, measured), among other factors. An international group of clinicians resolved to develop a set of terms that could be used to describe human structural malformations, under the general project name 'Elements of Morphology'. Here, the background to the project, progress to date, and the practical implementation of the terminology in research reporting is discussed.