The DiGeorge anomaly as a developmental field defect

Authors

  • Edward J. Lammer MD,

    Corresponding author
    1. Embryology-Teratology Unit, Massachusetts General Hospital, Boston
    • Embryology-Teratology Unit, Massachusetts General Hospital, Boston, MA 02114
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  • John M. Opitz,

    1. The Department of Medical Genetics, Shodair Children's Hospital, Helena, Montana
    2. Departments of Pediatrics and Medicine (Medical Genetics), University of Washington, Seattle
    3. Departments of Biology, History, and Philosophy, Medicine (WAMI Program), and Veterinary Science, Montana State University, Bozeman
    4. Departments of Medical Genetics and Pediatrics, University of Wisconsin, Madison
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  • James F. Reynolds

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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.

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