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产前诊断中脑-间脑裂畸形全前脑:两例报告。

Prenatal diagnosis of middle interhemispheric variant of holoprosencephaly: Report of two cases.

机构信息

Department of Obstetrics and Gynecology, University of Oklahoma Health Sciences Center, Oklahoma City, Oklahoma, USA.

出版信息

J Clin Ultrasound. 2021 Sep;49(7):765-769. doi: 10.1002/jcu.22984. Epub 2021 Feb 8.

Abstract

Holoprosencephaly ranges in severity based on the degree of anatomic abnormality. Middle interhemispheric variant of holoprosencephaly is a less common and often milder variant that has the characteristic sonographic findings of an absent cavum septum pellucidum and a single fused ventricle. This subtype may be associated with genetic conditions that have not been well-described in the literature. We present two cases of middle interhemispheric variant of holoprosencephaly diagnosed on fetal ultrasound.

摘要

无脑回畸形的严重程度取决于其解剖结构异常的程度。中隔腔脑裂畸形是一种不太常见且通常较轻的变异型,其具有特征性的超声表现,即透明隔腔缺失和单一融合脑室。这种亚型可能与尚未在文献中充分描述的遗传疾病有关。我们报告了两例在胎儿超声检查中诊断出的中隔腔脑裂畸形。

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