that delineate individual descriptors for human malformations [Allanson et al., 2009a,b;Biesecker et al., 2009;Carey et al., 2009;Hall et al., 2009;Hennekam et al., 2009;Hunter et al., 2009].This initial series of articles was followed by a supplementary article on ear morphology [Hunter, 2010].These articles defined, illustrated, and discussed the descriptors used by clinicians to document human anomalies.The goal of this effort is to unify the language of clinical descriptions to maximize the utility of published clinical reports, case series, and databases that include phenotypic data.To that end, the American Journal of Medical Genetics Part A will now require that this terminology be used for all publications.The purpose of this Commentary is to inform the readership of how this will be accomplished.The new Journal policy will require that all manuscripts include approved terms, when they are available.Authors should familiarize themselves with the terminology when they are preparing to draft a manuscript for the Journal.This can be accomplished either by reviewing the published articles (http://onlinelibrary.wiley.com)or by using the Elements of Morphology web site: http://elementsofmorphology.nih.gov/index.cgi.This web site has been designed to link out from the home page to six pages that include a listing of the terms from each of the six original term definition articles, either via clicking on the anatomic region of the line drawing or via a listing of the regions (Fig. 1).From that page, readers can then link through to individual term pages (Fig. 2).Authors will need to review each use of a descriptive term to insure that their use of that term conforms to the approved definition.This is especially important for terms that have alternative objective and subjective definitions.To facilitate compliance with this policy, we will require that authors indicate the use of every approved term by bolding the text of that term within the article.It will be important for authors to carefully review their manuscripts to insure that they are not using a nonstandard, alternative descriptor for an approved term.
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Biesecker et al. (2011) studied this question.
Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context: