Journal article
Meckel–Gruber Syndrome: Correlation between Ultrasound and Magnetic Resonance Assessment in a Fetal Case with Severe Oligohydramnios
Journal of pediatric neurology, Vol.19(4), pp.276-278
08/01/2021
DOI: 10.1055/s-0040-1718376
Abstract
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.
Details
- Title: Subtitle
- Meckel–Gruber Syndrome: Correlation between Ultrasound and Magnetic Resonance Assessment in a Fetal Case with Severe Oligohydramnios
- Creators
- Paulo Ricardo Sousa Frota de Almeida - Beneficência Portuguesa de São PauloSandra F. Centofanti - Beneficência Portuguesa de São PauloRafael L. do Carmo - DASABruno Shigueo Yonekura Inada - Beneficência Portuguesa de São PauloVictor Hugo Rocha Marussi - Beneficência Portuguesa de São PauloLeonardo F. Freitas - Beneficência Portuguesa de São Paulo
- Resource Type
- Journal article
- Publication Details
- Journal of pediatric neurology, Vol.19(4), pp.276-278
- Publisher
- Georg Thieme Verlag KG
- DOI
- 10.1055/s-0040-1718376
- ISSN
- 1304-2580
- eISSN
- 1305-0613
- Language
- English
- Date published
- 08/01/2021
- Academic Unit
- Radiology
- Record Identifier
- 9984697634702771
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