Meckel-Gruber Syndrome: Correlation between Ultrasound and Magnetic Resonance Assessment in a Fetal Case with Severe Oligohydramnios

被引：0

作者：

de Almeida, Paulo R. S. F. ^{[1
]}

Centofanti, Sandra F. ^{[1
]}

do Carmo, Rafael L. ^{[2
]}

Inada, Bruno S. Y. ^{[1
]}

Marussi, Victor H. R. ^{[1
]}

Freitas, Leonardo F. ^{[1
]}

机构：

[1] Hosp Beneficencia Portuguesa Sao Paulo, Dept Neuroradiol, R Martiniano de Carvalho 807,Apto 504, BR-01321001 Sao Paulo, SP, Brazil

[2] Grp DASA, Dept Neuroradiol, Sao Paulo, SP, Brazil

来源：

JOURNAL OF PEDIATRIC NEUROLOGY | 2021年 / 19卷 / 04期

关键词：

Meckel-Gruber syndrome; dysplastic kidneys; cephalocele;

D O I：

10.1055/s-0040-1718376

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

Meckel-Gruber syndrome (MGS) is a rare genetic condition determined by an autosomal recessive mutation and characterized by occipital cephalocele, postaxial polydactyly, and bilateral dysplastic cystic kidneys, besides many other findings. Antenatal ultrasonography can identify the major features, but in selected cases, magnetic resonance imaging (MRI) might help to obtain the correct diagnosis. We describe a well-documented case of MGS diagnosed by ultrasound in correlation with MRI findings.

引用

页码：276 / 278

页数：3

共 9 条

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