Holoprosencephaly is the most common forebrain defect in humans. We describe two novel mouse mutants that display a holoprosencephaly-like phenotype. Both mutations disrupt genes in the glycerophosphatidyl inositol (GPI) biosynthesis pathway: gonzo disrupts Pign and beaker disrupts Pgap1. GPI anchors normally target and anchor a diverse group of proteins to lipid raft domains. Mechanistically w...

Holoprosencephaly is a malformation of the brain due to a disturbance of the growth of the prosencephalon during the third cerebral vesicle phase of early fetal life. It is an anomaly of the prosencephalon with a single ventricle associated with malformation of the telencephalon and diencephalon. According to the degree of the malformation, this anomalad is classified into three types (DeMyer, ...

Chiari II malformations and holoprosencephaly have been considered to be brain malformations that differ with respect to teratogenic insult, embryologic mechanism, and morphology. We herein describe coexistent Chiari II malformation and holoprosencephaly that occurred in a viable infant. A review of the literature regarding Chiari II malformations and holoprosencephaly suggests that a disturban...

Ethanol is a teratogen, inducing a variety of structural defects in developing humans and animals that are exposed in utero. Mechanisms of ethanol teratogenicity in specific defects are not well understood. Oxidative metabolism of ethanol by alcohol dehydrogenase or cytochrome P450 2E1 has been implicated in some of ethanol's teratogenic effects, either via production of acetaldehyde or competi...

Maternal hypothyroidism is known to cause an array of complications, maternal and fetal. Some of them include infertility, abortion, still birth, pre-term labor, fetal distress, birth defects, low birth weight and low IQ. We present a case of 32-year-old multiparous woman with hypothyroidism whose pregnancy was terminated in mid-gestation because of development of holoprosencephaly. Holoprosenc...

OBJECTIVE Holoprosencephaly is a kind of brain anomaly characterized by inadequate cleavage of the prosencephalon during early embryogenesis. In addition, holoprosencephaly associated with cystic hygroma and hydrops fetalis has never been reported. In this article, we report a rare case of holoprosencephaly associated with cystic hygroma and hydrops fetalis diagnosed prenatally. CASE REPORT A...

We report on the prenatal diagnosis of a case of cebocephaly, alobar holoprosencephaly, and microcephaly associated with a de novo proximal interstitial deletion of the long arm of chromosome 14: del(14)(q13q21.1) or (q13q21.2). This is the third case of holoprosencephaly in association with a deletion in this region. The present report concerns the association between prenatal craniofacial dev...

A three generation pedigree is described in which there are two carriers of translocation t(7;18). Two members of the family have trisomy 18p and a stillborn child had monosomy 18p and holoprosencephaly. Another stillborn child probably had holoprosencephaly; the karyotype was not analysed. Based on this observation, the occasional occurrence of holoprosencephaly in monosomy 18p (10% of previou...