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Related Experiment Videos

[Identification of syndromes using a combined computer and video program].

P Strømme1, L Ose

  • 1Senter for mental retardasjon, Barneklinikken Rikshospitalet, Oslo.

Tidsskrift for Den Norske Laegeforening : Tidsskrift for Praktisk Medicin, Ny Raekke
|March 30, 1990
PubMed
Summary

The POSSUM database aided in diagnosing rare genetic disorders in children with multiple congenital anomalies. This computerized approach proved valuable for identifying dysmorphic syndromes.

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Area of Science:

  • Medical Genetics
  • Clinical Dysmorphology

Context:

  • Evaluating diagnostic tools for rare diseases.
  • Assessing the utility of databases in pediatric genetics.

Purpose:

  • To assess the effectiveness of the Pictures of Standard Syndromes and Undiagnosed Malformations (POSSUM) database in diagnosing children with multiple congenital anomalies.
  • To determine the contribution of a computerized diagnostic aid to clinical evaluations.

Summary:

  • The POSSUM database was used to evaluate 49 children with multiple congenital anomalies over 1.5 years.
  • A specific diagnosis was achieved in 23 cases, with POSSUM significantly contributing to 13 diagnoses.
  • Computerized approaches are beneficial for diagnosing dysmorphic syndromes.

Impact:

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  • Highlights the value of digital resources in diagnosing complex pediatric conditions.
  • Suggests POSSUM as a useful tool for clinicians managing undiagnosed malformation syndromes.
  • Supports the integration of technology in clinical genetics for improved diagnostic yield.