Meckel Gruber Syndrome in a Nigerian child: A Case Report and Review of the Literature.

Meckel-Gruber Syndrome (MGS) is a rare and lethal autosomal recessive disorder characterized by a triad of occipital encephalocele, polycystic kidneys, and polydactyly. The worldwide incidence varies from 1 in 13,250 to 1 in 140,000 live births, with a 25% reoccurrence rate. Prenatally, diagnosis can be made by ultrasonography for fetal anomalies at 11 to 14 weeks of pregnancy, which can guide management decisions. We report a female baby with the characteristic features of this syndrome, which was confirmed by autopsy findings.

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Journal
PubMed
Published
2025-06-21
DOI
https://doi.org/10.71480/nmj.v66i3.953
Primary Topic
Genetic and Kidney Cyst Diseases
Type
article
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article

Meckel Gruber Syndrome in a Nigerian child: A Case Report and Review of the Literature.

Nasiru Raheem, Wasinda Solomon Bulus, Fatima JoyBaba, Innocent AdoyiAgaba
PubMed
Genetic and Kidney Cyst Diseases
article

Meckel Gruber Syndrome in a Nigerian child: A Case Report and Review of the Literature.

Nasiru Raheem, Wasinda Solomon Bulus, Fatima JoyBaba, Innocent AdoyiAgaba
article en

Abstract

Meckel-Gruber Syndrome (MGS) is a rare and lethal autosomal recessive disorder characterized by a triad of occipital encephalocele, polycystic kidneys, and polydactyly. The worldwide incidence varies from 1 in 13,250 to 1 in 140,000 live births, with a 25% reoccurrence rate. Prenatally, diagnosis can be made by ultrasonography for fetal anomalies at 11 to 14 weeks of pregnancy, which can guide management decisions. We report a female baby with the characteristic features of this syndrome, which was confirmed by autopsy findings.

PubMedVol. 66(3)
Adamawa State University (NG), Modibbo Adama University of Technology (NG)
Openalex Percentile: Top 66%
Genetic and Kidney Cyst Diseases
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