Journal of Pediatric Neurology
DOI: 10.1055/s-0040-1718376
Case Report

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

1  Department of Neuroradiology, Hospital Beneficência Portuguesa de São Paulo, São Paulo-SP, Brazil
,
1  Department of Neuroradiology, Hospital Beneficência Portuguesa de São Paulo, São Paulo-SP, Brazil
,
2  Department of Neuroradiology, Grupo DASA, São Paulo-SP, Brazil
,
1  Department of Neuroradiology, Hospital Beneficência Portuguesa de São Paulo, São Paulo-SP, Brazil
,
1  Department of Neuroradiology, Hospital Beneficência Portuguesa de São Paulo, São Paulo-SP, Brazil
,
1  Department of Neuroradiology, Hospital Beneficência Portuguesa de São Paulo, São Paulo-SP, Brazil
› Institutsangaben

Abstract

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.



Publikationsverlauf

Eingereicht: 16. Juli 2020

Angenommen: 14. August 2020

Publikationsdatum:
05. Oktober 2020 (online)

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