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Related Experiment Videos

Dandy-Walker variant in Coffin-Siris syndrome.

T Imai1, H Hattori, M Miyazaki

  • 1Department of Pediatrics, Faculty of Medicine, Kyoto University, Kyoto, Japan. imatsuyo@kuhp.kyoto-u.ac.jp

American Journal of Medical Genetics
|April 12, 2001
PubMed
Summary

This study reports a case of Coffin-Siris syndrome with Dandy-Walker variant, a rare brain malformation. This finding expands the known spectrum of hindbrain abnormalities associated with Coffin-Siris syndrome.

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Area of Science:

  • Neuroscience
  • Genetics
  • Developmental Biology

Background:

  • Coffin-Siris syndrome is a rare genetic disorder.
  • Previous reports linked Coffin-Siris syndrome to Dandy-Walker malformation and mega cisterna magna.
  • Dandy-Walker variant has not been previously documented in Coffin-Siris syndrome.

Observation:

  • A five-month-old male infant presented with Coffin-Siris syndrome.
  • The infant exhibited Dandy-Walker variant (cerebellar vermis hypoplasia, cystic fourth ventricle dilatation, normal posterior fossa size).
  • Partial agenesis of the corpus callosum was also noted.

Findings:

  • The case confirms Dandy-Walker variant can occur in Coffin-Siris syndrome.
  • This expands the spectrum of Dandy-Walker complex presentations in Coffin-Siris syndrome.

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  • The genetic basis of Coffin-Siris syndrome may involve hindbrain development pathways.

    • Implications:

    • The findings suggest a broader spectrum of central nervous system malformations in Coffin-Siris syndrome.
    • Further research into the genetic underpinnings of Coffin-Siris syndrome is warranted.
    • This case highlights the importance of detailed neuroimaging in diagnosing Coffin-Siris syndrome.