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Elements of morphology: Standard terminology for the nose and philtrum†‡

  1. Raoul C.M. Hennekam1,2,*,
  2. Valerie Cormier-Daire3,
  3. Judith G. Hall4,
  4. Károly Méhes5,
  5. Michael Patton6,
  6. Roger E. Stevenson7

Article first published online: 16 JAN 2009

DOI: 10.1002/ajmg.a.32600

Issue

American Journal of Medical Genetics Part A

American Journal of Medical Genetics Part A

Special Issue: Elements of Morphology: Standard Terminology

Volume 149A, Issue 1, pages 61–76, January 2009

Additional Information

How to Cite

Hennekam, R. C.M., Cormier-Daire, V., Hall, J. G., Méhes, K., Patton, M. and Stevenson, R. E. (2009), Elements of morphology: Standard terminology for the nose and philtrum. Am. J. Med. Genet., 149A: 61–76. doi: 10.1002/ajmg.a.32600

Author Information

  1. 1

    Clinical and Molecular Genetics Unit, Institute of Child Health, Great Ormond Street Hospital for Children, UCL, London, UK

  2. 2

    Department of Pediatrics, Academic Medical Center, UVA, Amsterdam, The Netherlands

  3. 3

    Department of Medical Genetics and INSERM U781, Hopital Necker, Paris, France

  4. 4

    Department of Paediatrics, BC's Children's Hospital, Vancouver, British Columbia, Canada

  5. 5

    Department of Medical Genetics and Child Development, University of Pecs, Pecs, Hungary

  6. 6

    Medical Genetics, St Georges Hospital Medical School, London, UK

  7. 7

    Greenwood Genetic Center, Greenwood, South Carolina

*Clinical and Molecular Genetics Unit, Institute of Child Health, 30 Guilford Street, London WC1N 1EH, UK.

  1. †

    Note: Individuals are free to copy, distribute and display this work and to make derivative works for noncommercial purposes so long as the work is given proper attribution per the Creative Commons License 3.0. Any derivative works so made should contain the following legend “This is a derivative work of [full cite], made pursuant to Creative Commons License 3.0. It has not been reviewed for accuracy or approved by the copyright owner. The copyright owner disclaims all warranties.”

  2. ‡

    How to cite this article: Hennekam RCM, Cormier-Daire V, Hall J, Méhes K, Patton M, Stevenson R. 2009. Elements of morphology: Standard terminology for the nose and philtrum. Am J Med Genet Part A 149A:61–76.

Publication History

  1. Issue published online: 16 JAN 2009
  2. Article first published online: 16 JAN 2009
  3. Manuscript Accepted: 15 OCT 2008
  4. Manuscript Received: 6 SEP 2008

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Keywords:

  • nomenclature;
  • definitions;
  • nose;
  • philtrum;
  • anatomy;
  • anthropometry;
  • morphology;
  • dysmorphology

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. 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 nose and philtrum, and define and illustrate the terms that describe the major characteristics of these body regions. © 2009 Wiley-Liss, Inc.

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