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Keywords:

  • CNS anomalies;
  • forebrain anomalies;
  • arrhinencephaly;
  • agenesis of the corpus callosum;
  • pituitary abnormalities;
  • hindbrain abnormalities;
  • syntelencephaly;
  • aprosencephaly/atelencephaly;
  • neural tube defects;
  • facial anomalies;
  • median cleft lip;
  • minor anomalies;
  • single maxillary central incisor;
  • holoprosencephaly-like phenotype;
  • epidemiology;
  • genetic causes;
  • teratogenic causes;
  • molecular biology;
  • SHH;
  • ZIC2;
  • SIX3;
  • TGIF;
  • PTCH;
  • GLI2;
  • FAST1;
  • TDGF1;
  • DHCR7

Abstract

Holoprosencephaly is addressed under the following headings: alobar, semilobar, and lobar holoprosencephaly; arrhinencephaly; agenesis of the corpus callosum; pituitary abnormalities; hindbrain abnormalities; syntelencephaly; aprosencephaly/atelencephaly; neural tube defects; facial anomalies; median cleft lip; minor facial anomalies; single maxillary central incisor; holoprosencephaly-like phenotype; epidemiology; genetic causes of holoprosencephaly; teratogenic causes of holoprosencephaly; SHH mutations; ZIC2 mutations; SIX3 mutations; TGIF mutations; PTCH mutations; GLI2 mutations; FAST1 mutations; TDGF1 mutations; and DHCR7 mutations. Birth Defects Research (Part A) 76:658–673, 2006. © 2006 Wiley-Liss, Inc.