Journal
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
Volume 149A, Issue 1, Pages 2-5Publisher
WILEY
DOI: 10.1002/ajmg.a.32601
Keywords
nomenclature; definitions; morphology; dysmorphology; birth defects; malformations; minor anomalies; common variants
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Funding
- Birth Defects Foundation, Newlife (UK)
- Institute of Child Health (UK)
- National Foundation of the March of Dimes (USA)
- National Human Genome Research Institute (USA)
- Catholic University of Rome (Italy)
- John Wiley and Sons publishing
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An international group of clinicians working in the field of dysmorphology has initiated the standardization of terms used to describe human morphology. The goals are to standardize these terms and reach consensus regarding their definitions. In this way, we will increase the utility of descriptions of the human phenotype and facilitate reliable comparisons of findings among patients. Discussions with other workers in dysmorphology and related fields, such as developmental biology and molecular genetics, will become more precise. Here we describe the general background of the project and the various issues we have tried to take into account in defining the terms. Published 2009 Wiley-Liss, Inc.
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