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

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.

Keywords

Meckel–Gruber syndrome - dysplastic kidneys - cephalocele

• References

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