Chapter 2. Uses of Databases in Dysmorphology

  1. Patrizia Ferretti2,
  2. Andrew Copp2,
  3. Cheryll Tickle3 and
  4. Gudrun Moore4
  1. Michael Baraitser Geneticist

Published Online: 25 JAN 2010

DOI: 10.1002/9780470090121.ch2

Embryos, Genes and Birth Defects, Second Edition

Embryos, Genes and Birth Defects, Second Edition

How to Cite

Baraitser, M. (2008) Uses of Databases in Dysmorphology, in Embryos, Genes and Birth Defects, Second Edition (eds P. Ferretti, A. Copp, C. Tickle and G. Moore), John Wiley & Sons Ltd, Oxford, UK. doi: 10.1002/9780470090121.ch2

Editor Information

  1. 2

    Neural Development Unit/Developmental Biology Unit, UCL Institute of Child Health, 30 Guilford Street, London WC1N 1EH, UK

  2. 3

    Division of Cell and Developmental Biology, School of Life Sciences, MSI/WTB Complex, University of Dundee, Dow Street, Dundee, UK

  3. 4

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

Author Information

  1. Department of Clinical Genetics, UCL Institute of Child Health, 30 Guilford Street, London WC1N 1EH, UK

Publication History

  1. Published Online: 25 JAN 2010
  2. Published Print: 21 NOV 2008

ISBN Information

Print ISBN: 9780470090107

Online ISBN: 9780470090121

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Keywords:

  • databases in dysmorphology;
  • syndrome, malformations occurring together;
  • Laurence–Moon–Biedl (LMB) syndrome - post-axial polydactyly, mental retardation, pigmentary retinopathy;
  • precise diagnosis - prognosis involving other organs;
  • syndrome diagnosis - leading to prenatal diagnosis;
  • chromosomal deletion - mechanism of causation;
  • VATER syndrome - determining extent of malformations;
  • Coffin–Lowry syndrome - mental retardation, down slanting palpebral fissures and prominent lower lip;
  • electronic means of image archiving - incorporation of visual records into databases

Summary

This chapter contains sections titled:

  • What is a syndrome?

  • Some of these problems are addressed by dysmorphology databases

  • Where databases do not help

  • Dysmorphology databases

  • How databases work

  • References