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Updated: Jul 3, 2026

Multimodality Diagnosis of Mesenteric Ischemia
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Published on: July 21, 2023

Meckel-Gruber syndrome.

U Ramachandran1, T Malla, K S Joshi

  • 1Department of Paediatrics, Manipal Teaching Hospital, Pokhara, Nepal.

Kathmandu University Medical Journal (KUMJ)
|July 8, 2008
PubMed
Summary
This summary is machine-generated.

Meckel-Gruber syndrome is a rare, lethal autosomal disorder characterized by a specific triad of defects. This case highlights the complexity and associated anomalies seen in this severe genetic condition.

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Area of Science:

  • Genetics
  • Developmental Biology
  • Pediatric Medicine

Background:

  • Meckel-Gruber syndrome (MGS) is a rare, lethal autosomal recessive disorder.
  • It is genetically linked to chromosome 17 and presents with a characteristic triad of anomalies.
  • The primary cause of mortality is pulmonary hypoplasia.

Observation:

  • This report details an exceptionally rare case of Meckel-Gruber syndrome.
  • The patient presented with the classic triad: occipital meningoencephalocoele, large polycystic kidneys, and post-axial polydactyly.
  • Numerous additional associated defects were noted, underscoring the syndrome's variable expressivity.

Findings:

  • The case confirms the diagnostic criteria for Meckel-Gruber syndrome.
  • The presence of multiple, severe associated anomalies complicates the clinical picture.
  • Pulmonary hypoplasia was identified as the critical factor contributing to lethality.

Implications:

  • This case expands the understanding of Meckel-Gruber syndrome's phenotypic spectrum.
  • It emphasizes the importance of early and accurate diagnosis in genetic counseling.
  • Further research into the genetic underpinnings and management strategies for MGS is warranted.