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Prenatal diagnosis of holoprosencephaly with ethmocephaly via 3-dimensional sonography

✍ Scribed by Gui-Se-Ra Lee; Soo Young Hur; Jong-Chul Shin; Soo-Pyung Kim; Sa Jin Kim

Publisher
John Wiley and Sons
Year
2006
Tongue
English
Weight
199 KB
Volume
34
Category
Article
ISSN
0091-2751

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✦ Synopsis

We present the prenatal 3-dimensional (3D) sonographic findings in a case of holoprosencephaly with ethmocephaly at 32 weeks' gestation. The sonographic diagnosis was based on the intracranial findings of a single ventricle and bulb-shaped appearance of the thalami and facial abnormalities, including hypotelorism with proboscis. Chromosome study of the fetus revealed a normal female karyotype (46,XX). Postmortem examination confirmed the 3D sonographic findings. This case demonstrates that the use of 3D sonography improves the imaging and the understanding of the condition of the intracranial abnormalities and the facial anomalies.

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