Holoprosencephaly: Clinical, anatomic, and molecular dimensions


  • M. Michael Cohen Jr.

    Corresponding author
    1. Department of Pediatrics, Dalhousie University, Halifax, Nova Scotia, Canada
    • Department of Pediatrics, Dalhousie University, 5981 University Avenue, Rm. 5132, Halifax, Nova Scotia B3H 1W2 Canada
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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.