Holoprosencephaly: Clinical, anatomic, and molecular dimensions

✍ Scribed by M. Michael Cohen Jr.

• Book ID: 101706509
• Publisher: John Wiley and Sons
• Year: 2006
• Tongue: English
• Weight: 325 KB
• Volume: 76
• Category: Article
• ISSN: 1542-0752
• DOI: 10.1002/bdra.20295

✦ Synopsis

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.