Author/Authors :
Amirshahi Mehrbanu Faculty of Nursing & Midwifery - Zabol University of Medical Sciences - Zabol, Iran , Abdollahimohammad Abdolghani Faculty of Nursing & Midwifery - Zabol University of Medical Sciences - Zabol, Iran , Mirshekari Fatemeh Faculty of Nursing & Midwifery - Zabol University of Medical Sciences - Zabol, Iran , Naroei Fereshteh Faculty of Nursing & Midwifery - Zabol University of Medical Sciences - Zabol, Iran , Sanagoo Akram Nursing Research Center - Golestan University of Medical Sciences - Golestan, Iran , Salehi Ashraf Faculty of Medical Sciences Khomain - Arak University of Medical Sciences Arak, Iran , Kerami Azam Faculty of Medical Sciences Khomain - Arak University of Medical Sciences Arak, Iran , Mansoorifar Leila Iran University of Medical Sciences - Tehran, Iran , Mirshekari Marzeeh Zahedan University of Medical Sciences - Zahedan, Iran , Mirshekari Leila Faculty of Nursing & Midwifery - Zabol University of Medical Sciences - Zabol, Iran
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.
Keywords :
Outcome , Proboscis , Pregnancy , Hypotelorism , Holoprosencephaly
