Holoprosencephaly: clinical, anatomic, and molecular dimensions

Birth Defects Res A Clin Mol Teratol. 2006 Sep;76(9):658-73. doi: 10.1002/bdra.20295.

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.

Publication types

  • Review

MeSH terms

  • Epidermal Growth Factor / genetics
  • Eye Proteins / genetics
  • Face / pathology
  • Forkhead Transcription Factors / genetics
  • GPI-Linked Proteins
  • Hedgehog Proteins / genetics
  • Holoprosencephaly / classification
  • Holoprosencephaly / complications*
  • Holoprosencephaly / epidemiology*
  • Holoprosencephaly / genetics*
  • Holoprosencephaly / pathology*
  • Homeodomain Proteins / genetics
  • Humans
  • Intercellular Signaling Peptides and Proteins
  • Kruppel-Like Transcription Factors / genetics
  • Membrane Glycoproteins / genetics
  • Mutation / genetics
  • Neoplasm Proteins / genetics
  • Nerve Tissue Proteins / genetics
  • Neural Tube Defects / pathology
  • Nuclear Proteins / genetics
  • Oxidoreductases Acting on CH-CH Group Donors / genetics
  • Patched Receptors
  • Patched-1 Receptor
  • Receptors, Cell Surface / genetics
  • Repressor Proteins / genetics
  • Transcription Factors / genetics
  • Zinc Finger Protein Gli2

Substances

  • Eye Proteins
  • FOXH1 protein, human
  • Forkhead Transcription Factors
  • GLI2 protein, human
  • GPI-Linked Proteins
  • Hedgehog Proteins
  • Homeodomain Proteins
  • Intercellular Signaling Peptides and Proteins
  • Kruppel-Like Transcription Factors
  • Membrane Glycoproteins
  • Neoplasm Proteins
  • Nerve Tissue Proteins
  • Nuclear Proteins
  • PTCH protein, human
  • Patched Receptors
  • Patched-1 Receptor
  • Receptors, Cell Surface
  • Repressor Proteins
  • SHH protein, human
  • Sine oculis homeobox homolog 3 protein
  • TDGF1 protein, human
  • TGIF1 protein, human
  • Transcription Factors
  • ZIC2 protein, human
  • Zinc Finger Protein Gli2
  • Epidermal Growth Factor
  • Oxidoreductases Acting on CH-CH Group Donors
  • 7-dehydrocholesterol reductase