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Normal values for morphological abnormalities in school children.

Johannes H M Merks1, Heval M Ozgen, Theresia L M Cluitmans

  • 1Department of Pediatric Oncology, Emma Children's Hospital, Academic Medical Center, Amsterdam, The Netherlands. j.h.merks@amc.uva.nl

American Journal of Medical Genetics. Part A
|July 14, 2006
PubMed
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This study establishes normal values for phenotypic abnormalities in 1,007 Dutch school children, crucial for identifying developmental disorders. These findings aid in evaluating minor anomalies and common variants in various patient groups.

Area of Science:

  • Medical genetics
  • Human morphology
  • Developmental biology

Background:

  • Clinical morphology aids in syndrome delineation and molecular studies.
  • Minor anomalies are indicators of altered embryonic differentiation.
  • Limited data exists on phenotypic abnormalities in the general population, particularly in older children.

Purpose of the Study:

  • To establish normative data for morphological characteristics in a representative sample of Dutch school children.
  • To provide age-adjusted classifications for phenotypic abnormalities.
  • To enable better evaluation of minor anomalies and common variants in clinical and research settings.

Main Methods:

  • Body surface examination of 1,007 school children (median age 11 years).
  • Detailed definitions for all morphological findings were used.

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  • Reliability assessed via independent scoring by two observers (kappa = 0.85).

    • Main Results:

    • Normal values for morphological findings in school children were determined.
    • Age-adjusted classifications for these findings were established.
    • Data represents the general Dutch population.

    Conclusions:

    • The established normal values are essential for validating classifications of phenotypic abnormalities.
    • These values facilitate the proper evaluation of patterns of abnormalities in patient groups.
    • This study provides a valuable resource for clinical morphology and genetic disorder research.