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Holoprosencephaly: clinical, anatomic, and molecular dimensions.

Author information

1
Department of Pediatrics, Dalhousie University, Halifax, Nova Scotia, Canada. michael.cohen@dal.ca

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.

PMID:
17001700
DOI:
10.1002/bdra.20295
[Indexed for MEDLINE]

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