Abstract
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, we described a case of HPE in a neonate with gestational age of 32 weeks. Antenatal ultrasonographic diagnosis was performed,
and the infant was presented with macrocephaly, bilateral microphthalmia, hypotelorism, proboscis and ambiguous genitalia.
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, we described a case of HPE in a neonate with gestational age of 32 weeks. Antenatal ultrasonographic diagnosis was performed,
and the infant was presented with macrocephaly, bilateral microphthalmia, hypotelorism, proboscis and ambiguous genitalia.
Keywords
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