Home|Journals|Articles by Year|Audio Abstracts
 

Case Report

RMJ. 2012; 37(3): 340-342


Prenatal ultrasound diagnosis of holoprosencephaly

Saliha Habib.




Abstract

Holoprosencephaly is a complex developmental abnormality of the forebrain occurring in early embryonic life; incidence is 1: 16,000 births. This anomaly results from failure of cleavage of prosencephalon and categorized into three forms ; alobar , semilobar and lobar (from most to least severe). A spectrum of craniofacial malformations can occur which include a monoventricular cavity, fusion of the thalami and absence of the corpus callosum, falx cerebri, optic tracts and olfactory bulb. Facial defects may affect the orbits , nose and upper lips. Associations are trisomy 13 ,18 ,polyhydramnios ,renal and cardiac anomalies. I report a case of a Pakistani woman having an antenatal ultrasound examination done showing monoventricle, fused thalami, absence of septum pellucidum and falx cerebri and hypotelorism alongwith polyhydramnios. The baby born was a stillbirth and midline facial defects including hypotelorism and midline cleft lip were identified which confirmed the diagnosis of holoprosencephaly.

Key words: Holoprosencephaly, monoventricular cavity, fused thalami, hypotelorism, polyhydramnios.






Full-text options


Share this Article


Online Article Submission
• ejmanager.com




ejPort - eJManager.com
Refer & Earn
JournalList
About BiblioMed
License Information
Terms & Conditions
Privacy Policy
Contact Us

The articles in Bibliomed are open access articles licensed under Creative Commons Attribution 4.0 International License (CC BY), which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/.