Meckel-Gruber syndrome: a rare and fatal congenital disorder (case report).

Pan Afr Med JSep 6, 2026 (epub)
Case ReportMedical GeneticsObstetrics & GynecologyOpen access

Khouloud Moulehi, Imen Bannour, Chayma Rjiba et al.

✦ AI-curated · Sources linked

Case in brief

A 40-year-old woman, gravida 2 para 1, presented with a fetus diagnosed with Meckel-Gruber syndrome, identified through prenatal ultrasound and MRI. The fetus exhibited key features including an occipital encephalocele, polydactyly, and polycystic renal dysplasia. The pregnancy was terminated at 19 weeks of gestation, with the diagnosis confirmed by fetal autopsy.

Diagnostic / clinical pearl

Meckel-Gruber syndrome can be diagnosed prenatally using ultrasound and MRI, with confirmation through karyotype analysis.

Why it matters

Early detection of Meckel-Gruber syndrome is crucial for management decisions in pregnancies at risk, particularly in consanguineous unions.

Source

PubMed · PMID 41858965Free full text on PubMed Central

Published in Pan Afr Med J. This summary was written by xxcode from the publication's abstract and metadata. It is not peer reviewed and is not a substitute for the original article. For clinical decisions, review the original publication.

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