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Related Experiment Videos

Dandy-Walker malformation in the Meckel syndrome

M C Summers1, A E Donnenfeld

  • 1Department of Obstetrics and Gynecology, Brigham and Women's Hospital, Philadelphia, Pennsylvania, USA.

American Journal of Medical Genetics
|January 2, 1995
PubMed
Summary

Meckel syndrome (MS) presents with varied symptoms, including kidney disease, polydactyly, and brain malformations like Dandy-Walker. This study highlights the diverse clinical expressions of this rare genetic disorder.

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Area of Science:

  • Genetics and Developmental Biology
  • Medical Genetics
  • Pediatric Neurology

Background:

  • Meckel syndrome (MS) is a rare autosomal recessive developmental disorder.
  • Classic MS is characterized by occipital encephalocele, cystic kidneys, and polydactyly.
  • Understanding MS phenotypic variability is crucial for diagnosis and management.

Observation:

  • Three siblings presented with diverse manifestations of Meckel syndrome.
  • One sibling had isolated cystic renal disease.
  • Two siblings exhibited prenatal diagnosis of renal disease, polydactyly, and Dandy-Walker malformation.

Findings:

  • The Dandy-Walker malformation represents an unusual CNS defect in Meckel syndrome cases.
  • Phenotypic expression of Meckel syndrome can vary significantly among affected individuals.

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  • The findings expand the spectrum of known Meckel syndrome presentations.

    • Implications:

    • These observations contribute to a broader understanding of Meckel syndrome's phenotypic spectrum.
    • Further research into the genetic and molecular basis of MS variability is warranted.
    • Clarifying the nosology of Meckel syndrome and related cerebro-reno-digital syndromes is essential.