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Keywords:

  • DiGeorge anomaly;
  • monotopic developmental field defect;
  • polytopic developmental field defect;
  • neurocristopathy;
  • causal heterogeneity;
  • malformation;
  • disruption;
  • aneuploidy;
  • autosomal dominant inheritance;
  • autosomal recessive inheritance;
  • X-linked inheritance;
  • bisdiamine;
  • retinoic acid;
  • vitamin A

Abstract

The DiGeorge “syndrome” is a characteristic malformation pattern involving craniofacial, cardiac, thymic, and parathyroid structures. Evidence is accumulating that the DiGeorge “syndrome” is actually not a syndrome, but a polytopic developmental field defect. We present evidence of causal heterogeneity of the DiGeorge anomaly. This heterogeneity will be discussed in the light of recent findings that indicate that the dysmorphogenetically reactive unit responsible for the phenotype of the DiGeorge anomaly is a population of cephalic neural crest cells.