Holoprosencephaly: clinical, anatomic, and molecular dimensions.

M Michael Cohen

Journal: Birth defects research. Part A, Clinical and molecular teratology 2006;76(9):658-73

PMID: 17001700

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.

Address: Department of Pediatrics, Dalhousie University, Halifax, Nova Scotia, Canada. [email protected]

DOI: 10.1002/bdra.20295

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MeSH Terms: Epidermal Growth Factor, Eye Proteins, Face, Forkhead Transcription Factors, GPI-Linked Proteins, Hedgehog Proteins, Holoprosencephaly, Homeodomain Proteins, Humans, Intercellular Signaling Peptides and Proteins, Kruppel-Like Transcription Factors, Membrane Glycoproteins, Mutation, Neoplasm Proteins, Nerve Tissue Proteins, Neural Tube Defects, Nuclear Proteins, Oxidoreductases Acting on CH-CH Group Donors, Patched Receptors, Patched-1 Receptor, Receptors, Cell Surface, Repressor Proteins, Transcription Factors, Zinc Finger Protein Gli2, Homeobox Protein SIX3