title: The DiGeorge anomaly as a developmental field defect.
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.
authors.affiliation: Embryology-Teratology Unit, Massachusetts General Hospital, Boston 02114.
authors.forename: E J
authors.initials: EJ
authors.lastname: Lammer
authors.forename: J M
authors.initials: JM
authors.lastname: Opitz
mesh_terms: D004062:DiGeorge Syndrome / Q000196:embryology* / Q000209:etiology / Q000235:genetics; D005260:Female; D005799:Genes, Dominant; D005808:Genes, Recessive; D006801:Humans; D007153:Immunologic Deficiency Syndromes / Q000196:embryology*; D011247:Pregnancy; D013723:Teratogens
chemical_list: D013723:Teratogens