Document Type: Case Report
associate Professor of neonatology, Neonatal Research Center, Imam Reza Hospital, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.
fellow ship of neonatology, Neonatal Research Center, Imam Reza Hospital, Mashhad, Iran.
holoprosencephaly is a rare congenital brain malformation resulting from failure of diverticulation and cleavage of primitive prosencephalon which occurs at 4 - 8th week of gestation and is usually associated with multiple midline facial anomalies. it
is the most common forebrain
developmental anomaly in humans with
prevalence of 1/16,000 in live borns, an
incidence as high as 1:250 in conceptuses,
and a worldwide distribution6. The
etiology of HPE is very heterogeneous.
First, this pathology can be caused by
environmental or metabolic factors. The
only formally recognized environmental
factors are insulin-dependent diabetes
mellitus (1% risk of HPE) and maternal
alcoholism with a risk that cumulates
. Clinical expression is variable, extending in unbroken
sequence from a small brain with a single cerebral ventricle and cyclopia to
clinically unaffected carriers in familial holoprosencephaly.
we report a boy 39 weeks neonatal case of holoprosencephaly with Antenatal ultrasonographic diagnosis, with
microcephaly, hypotelorism, flat nose, a single
nostril, a midline cleft lip and palate