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无脑叶全前脑畸形:超声产前诊断

Alobar holoprosencephaly: ultrasonographic prenatal diagnosis.

作者信息

Filly R A, Chinn D H, Callen P W

出版信息

Radiology. 1984 May;151(2):455-9. doi: 10.1148/radiology.151.2.6709918.

DOI:10.1148/radiology.151.2.6709918
PMID:6709918
Abstract

Modern ultrasound imaging devices have increasingly allowed sophisticated prenatal diagnoses of fetal disorders. Embryopathologic and ultrasound findings are reported in five cases of alobar holoprosencephaly that were diagnosed prenatally, two cases as early as 23 menstrual weeks. Specific sonographic findings included a large central cranial fluid collection (a monoventricular cavity lacking ventricular horns and midline structures), a fused thalamus at the floor of this cavity, and characteristic facial features (proboscis, single orbit, single nostril, or severe hypotelorism). Differential diagnosis of the fetus with a large intracranial fluid collection is discussed and illustrated.

摘要

现代超声成像设备越来越能够对胎儿疾病进行复杂的产前诊断。本文报告了5例产前诊断为无脑叶全前脑畸形的胚胎病理学和超声检查结果,其中2例早在孕23周时就被诊断出来。具体的超声检查结果包括一个巨大的中央颅腔积液(一个没有脑室角和中线结构的单脑室腔)、该腔底部融合的丘脑以及特征性面部特征(长鼻、单眼眶、单鼻孔或严重的眼距过窄)。文中讨论并举例说明了对有巨大颅内积液胎儿的鉴别诊断。

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