How to understand Holoprosencephaly - Review Article
Author Radu Vladareanu, Alexandra Munteanu, Cringu A Ionescu, Dan Navolan, Simona Vladareanu
ISSN 0973-614X
JournalTitle Donald School Journal of Ultrasound in Obstetrics and Gynecology
DOI 10.5005/jp-journals-10009-1534
Volume 11
Issue 4
Publishing Year 2017
Pages 282-287
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ABSTRACT

Holoprosencephaly (HPE) is a group of complex structural malformations of the forebrain that results from complete or incomplete nonseparation of the prosencephalon that yields an incomplete division of the cerebral hemispheres and of the telencephalon from the diencephalon. According to the severity of the malformation, HPE is categorized into four subtypes: Alobar HPE, semilobar HPE, lobar HPE, and a middle interhemispheric fusion variant (syntelencephaly). The incidence of HPE is 1 in 10,000 to 15,000 births. The etiology of HPE is very heterogeneous, and the identified causes until now are: Chromosomal (most commonly trisomy 13), monogenic, and teratogenic. The first step of the diagnostics is based on the ultrasound visualization of cerebral ventricular abnormalities, on the axial plane of the fetal brain, and on the facial anomalies.

Keywords: Anomaly of the brain, Cebocephaly, Corpus callosal agenesis, Facial abnormalities, Failure of midline cleavage, Holoprosencephaly, Hypotelorism, Microcephaly, Single nostril nose.

How to cite this article: Vladareanu R, Munteanu A, Ionescu CA, Navolan D, Vladareanu S. How to understand Holoprosencephaly. Donald School J Ultrasound Obstet Gynecol 2017;11(4):282-287.

Source of support: Nil

Conflict of interest: None

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