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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
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.
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.
- 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.