Holoprosencephaly is a rare malformation encountered in newborns. It refers to the absent or incomplete division of the prosencephalon.Case no. 1: a fetus was diagnosed by ultrasonogram at 29 weeks of gestation with alobar holoprosencephaly, proboscis and cyclopia. The premature infant was delivered by cesarean section at 32 weeks of gestation, confirming antenatal diagnosis.Case no. 2: a prema...

This study was conducted in a tertiary pediatric epilepsy clinic to ascertain the spectrum of development malformations in children, with seizures. Seventy Six Children (0-12 yr) with seizures and CNS malformations based on neuroimaging were included. Observed anomalies included dysgenetic corpus callosum (DCC), lissencephaly, focal cortical dysplasia (FCD), pachygyria, polymicrogyria, heteroto...

We report a female infant with facial dysmorphism, ectrodactyly, holoprosencephaly, and associated hypernatremia. A 7-month-old female infant with cleft lip and palate, and ectrodactyly was admitted to our hospital with recurrent hypernatremic dehydration. Magnetic resonance imaging revealed holoprosencephaly. Plasma osmolality was increased whereas urinary osmolality was decreased. Serum ADH l...

Autosomal dominant holoprosencephaly is a rare but well documented entity and it can be the result of mutations in the Sonic Hedgehog gene (SHH). The transmitting parent may be normal or have a single maxillary central incisor. We describe a skewed sex ratio among the transmitting parents with SHH mutations, with more mothers than fathers having the mutation (p=0.002). The mechanism underlying ...

OBJECTIVE This study was undertaken to provide epidemiologic data on the prevalence of holoprosencephaly and to assess the sensitivity of routine ultrasonographic screening in a low-risk population. STUDY DESIGN A population-based register of congenital abnormalities was used to identify reported cases of holoprosencephaly between 1985 and 1998. Sources included fetal losses, termination for ...

OBJECTIVE To investigate the development of the metopic suture in fetuses with holoprosencephaly at 11 + 0 to 13 + 6 weeks of gestation. METHODS Three-dimensional (3D) ultrasound was used to measure the height and gap between the frontal bones in 200 normal fetuses and in nine fetuses with holoprosencephaly at 11 + 0 to 13 + 6 (median, 12) weeks of gestation. RESULTS In the 200 normal fetus...

holoprosencephaly (hpe) is a rare congenital brain malformation associated with multiple midline facial defects. this anomaly is resulted from the failure of diverticulation and cleavage of primitive prosencephalon during weeks 4-8 of gestation. hpe is the most common forebrain developmental anomaly in human with the incidence rate of 0.49-1.2 cases per 10,000-20,000 term births. in this study,...

Holoprosencephaly is a rare congenital brain malformation resulting from failure of diverticulation and cleavage of primitive prosencephalon which occurs at 4th 8th week of gestation and is usually associated with multiple midline facial anomalies. Herein we report an antenatal case of such patient. Patient was evaluated and because of the magnitude of the problem induction was done which led t...