title: Prenatal diagnosis of holoprosencephaly with ethmocephaly via 3-dimensional sonography.
abstract: 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.
authors.affiliation: Department of Obstetrics and Gynecology, Holy Family Hospital, Catholic University Medical College, Wonmi-Gu, Puchon City, Kyunggi-D0, Seoul, Korea.
authors.forename: Gui-Se-Ra
authors.initials: GS
authors.lastname: Lee
authors.forename: Soo Young
authors.initials: SY
authors.lastname: Hur
authors.forename: Jong-Chul
authors.initials: JC
authors.lastname: Shin
authors.forename: Soo-Pyung
authors.initials: SP
authors.lastname: Kim
authors.forename: Sa Jin
authors.initials: SJ
authors.lastname: Kim
mesh_terms: D000028:Abortion, Induced; D000328:Adult; D005260:Female; D016142:Holoprosencephaly / Q000000981:diagnostic imaging*; D006801:Humans; D021621:Imaging, Three-Dimensional; D011247:Pregnancy; D011263:Pregnancy Trimester, Third; D016216:Ultrasonography, Prenatal