Elements of morphology: Standard terminology for the trunk and limbs

Leslie G. Biesecker, Margaret P. Adam, Brian Hon Yin Chung, Kenjiro Kosaki, Leonie A. Menke, Susan M. White, John C. Carey, Raoul C.M. Hennekam

Research output: Contribution to journalArticlepeer-review

Abstract

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. Additional discussions with other workers in dysmorphology and related fields, such as developmental biology and molecular genetics, will become more precise. Here we introduce the anatomy of the trunk and limbs and define and illustrate the terms that describe the major characteristics of these body regions.

Original languageEnglish
Pages (from-to)3191-3228
Number of pages38
JournalAmerican Journal of Medical Genetics, Part A
Volume188
Issue number11
DOIs
Publication statusPublished - 2022 Nov

Keywords

  • anatomy
  • anthropometry
  • classification
  • dysmorphology
  • elements of morphology
  • nomenclature

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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