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Errors of morphogenesis and developmental field theory

M L Martínez-Frías1, J L Frías, J M Opitz

  • 1ECEMC and Departamento de Farmacologia, Facultad de Medicina, Universidad Complutense de Madrid, Spain.

American Journal of Medical Genetics
|April 17, 1998
PubMed
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Field theory offers a framework for understanding birth defects. It distinguishes between polytopic field defects arising during early development and monotopic defects occurring later, clarifying terminology for developmental anomalies.

Area of Science:

  • Developmental biology
  • Teratology
  • Genetics

Background:

  • Field theory offers a rational basis for classifying birth defects.
  • Early development (blastogenesis) establishes progenitor fields through gene expression.
  • Later development (organogenesis) refines these fields into final structures.

Purpose of the Study:

  • To propose a revised terminology for birth defects based on field theory.
  • To differentiate between malformations arising during blastogenesis and organogenesis.
  • To clarify the relationship between developmental field defects, malformation sequences, and pleiotropy.

Main Methods:

  • Application of field theory principles to developmental processes.
  • Analysis of malformation patterns based on timing and origin (blastogenesis vs. organogenesis).

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  • Distinguishing primary field defects from secondary effects and pleiotropy.

    • Main Results:

    • Malformations during blastogenesis are typically polytopic (affecting multiple fields) due to coordinated events.
    • Malformations during organogenesis are often monotopic (affecting a single field).
    • Proposed reclassification of "associations" as primary polytopic developmental field defects.

    Conclusions:

    • Field theory provides a robust framework for understanding the etiology and classification of birth defects.
    • Distinguishing between polytopic and monotopic defects aids in understanding genetic and developmental origins.
    • The proposed terminology enhances clarity in teratology and developmental genetics.