Skip to main content

Using Prototypical Cases and Prototypicality Measures for Diagnosis of Dysmorphic Syndromes

  • Conference paper
Knowledge-Based Intelligent Information and Engineering Systems (KES 2006)

Part of the book series: Lecture Notes in Computer Science ((LNAI,volume 4251))

Abstract

Since diagnosis of dysmorphic syndromes is a domain with incomplete knowledge and where even experts have seen only few syndromes themselves during their lifetime, documentation of cases and the use of case-oriented techniques are popular. In dysmorphic systems, diagnosis usually is performed as a classification task, where a prototypicality measure is applied to determine the most probable syndrome. These measures differ from the usual Case-Based Reasoning similarity measures, because here cases and syndromes are not represented as attribute value pairs but as long lists of symptoms, and because query cases are not compared with cases but with prototypes. In contrast to these dysmorphic systems our approach additionally applies adaptation rules. These rules do not only consider single symptoms but combinations of them, which indicate high or low probabilities of specific syndromes.

This is a preview of subscription content, log in via an institution to check access.

Access this chapter

Chapter
USD 29.95
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever
eBook
USD 84.99
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever
Softcover Book
USD 109.99
Price excludes VAT (USA)
  • Compact, lightweight edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info

Tax calculation will be finalised at checkout

Purchases are for personal use only

Institutional subscriptions

Preview

Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.

References

  1. Taybi, H., Lachman, R.S.: Radiology of Syndromes, Metabolic Disorders, and Skeletal Dysplasia. Year Book Medical Publishers, Chicago (1990)

    Google Scholar 

  2. Gierl, L., Stengel-Rutkowski, S.: Integrating Consultation and Semi-automatic Knowledge Acquisition in a Prototype-based Architecture: Experiences with Dysmorphic Syndromes. Artificial Intelligence in Medicine 6, 29–49 (1994)

    Article  Google Scholar 

  3. Clinical Dysmorphology, http://www.clindysmorphol.com

  4. Winter, R.M., Baraitser, M., Douglas, J.M.: A computerised data base for the diagnosis of rare dysmorphic syndromes. Journal of medical genetics 21(2), 121–123 (1984)

    Article  Google Scholar 

  5. Stromme, P.: The diagnosis of syndromes by use of a dysmorphology database. Acta Paeditr Scand 80(1), 106–109 (1991)

    Article  MathSciNet  Google Scholar 

  6. Weiner, F., Anneren, G.: PC-based system for classifying dysmorphic syndromes in children. Computer Methods and Programs in Biomedicine 28, 111–117 (1989)

    Article  Google Scholar 

  7. Evans, C.D.: A case-based assistant for diagnosis and analysis of dysmorphic syndromes. International Journal of Medical Informatics 20, 121–131 (1995)

    Article  Google Scholar 

  8. Tversky, A.: Features of Similarity. Psychological Review 84(4), 327–352 (1977)

    Article  Google Scholar 

  9. Rosch, E., Mervis, C.B.: Family Resemblance: Studies in the Internal Structures of Categories. Cognitive Psychology 7, 573–605 (1975)

    Article  Google Scholar 

  10. Kolodner, J.: Case-Based Reasoning. Morgan Kaufmann, San Mateo (1993)

    Google Scholar 

  11. Aamodt, A., Plaza, E.: Case-Based Reasoning: Foundation issues, methodological variation, and system approaches. AICOM 7, 39–59 (1994)

    Google Scholar 

  12. Broder, A.: Strategies for efficient incremental nearest neighbor search. Pattern Recognition 23, 171–178 (1990)

    Article  Google Scholar 

  13. Wilke, W., Smyth, B., Cunningham, P.: Using configuration techniques for adaptation. In: Lenz, M., et al. (eds.) Case-Based Reasoning technology, from foundations to applications, pp. 139–168. Springer, Berlin (1998)

    Chapter  Google Scholar 

  14. Schank, R.C.: Dynamic Memory: a theory of learning in computer and people. Cambridge University Press, New York (1982)

    Google Scholar 

  15. Bareiss, R.: Exemplar-based knowledge acquisition. Academic Press, San Diego (1989)

    MATH  Google Scholar 

  16. Schmidt, R., Gierl, L.: Case-based Reasoning for antibiotics therapy advice: an investigation of retrieval algorithms and prototypes. Artificial Intelligence in Medicine 23, 171–186 (2001)

    Article  Google Scholar 

  17. Bellazzi, R., Montani, S.: Portinale: Retrieval in a prototype-based case library: a case study in diabetes therapy revision. In: Smyth, B., Cunningham, P. (eds.) Proc. European Workshop on Case-Based Reasoning, pp. 64–75. Springer, Berlin (1998)

    Chapter  Google Scholar 

  18. Bichindaritz, I.: From cases to classes: focusing on abstraction in case-based reasoning. In: Burkhard, H.-D., Lenz, M. (eds.) Proc. German Workshop on Case-Based Reasoning, pp. 62–69. University Press, Berlin (1996)

    Google Scholar 

Download references

Author information

Authors and Affiliations

Authors

Editor information

Editors and Affiliations

Rights and permissions

Reprints and permissions

Copyright information

© 2006 Springer-Verlag Berlin Heidelberg

About this paper

Cite this paper

Schmidt, R., Waligora, T. (2006). Using Prototypical Cases and Prototypicality Measures for Diagnosis of Dysmorphic Syndromes. In: Gabrys, B., Howlett, R.J., Jain, L.C. (eds) Knowledge-Based Intelligent Information and Engineering Systems. KES 2006. Lecture Notes in Computer Science(), vol 4251. Springer, Berlin, Heidelberg. https://doi.org/10.1007/11892960_40

Download citation

  • DOI: https://doi.org/10.1007/11892960_40

  • Publisher Name: Springer, Berlin, Heidelberg

  • Print ISBN: 978-3-540-46535-5

  • Online ISBN: 978-3-540-46536-2

  • eBook Packages: Computer ScienceComputer Science (R0)

Publish with us

Policies and ethics