the neonate was born with holoprosencephaly

نویسندگان

reza saeidi associate professor of neonatology, neonatal research center, imam reza hospital, faculty of medicine, mashhad university of medical sciences, mashhad, iran.

abdolhosein abasi fellow ship of neonatology, neonatal research center, imam reza hospital, mashhad, iran.

چکیده

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 with smoking . 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. here. 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 microcephaly.

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عنوان ژورنال:
iranian journal of neonatology

جلد ۵، شماره ۳، صفحات ۳۲-۳۵

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