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The central nervous system in the Apert syndrome
1Department of Oral Biology, Faculty of Dentistry, Dalhousie University, Halifax, Nova Scotia, Canada.
American Journal of Medical Genetics
|January 1, 1990
Summary
Central nervous system malformations are common in Apert syndrome, often leading to intellectual disability. These brain abnormalities, including corpus callosum and limbic structure issues, are key to understanding patient outcomes.
Area of Science:
- Neurology
- Genetics
- Developmental Biology
Background:
- Apert syndrome is a genetic disorder characterized by premature fusion of skull sutures and midface hypoplasia.
- Craniofacial abnormalities are well-documented, but central nervous system (CNS) involvement requires further elucidation.
Purpose of the Study:
- To comprehensively review and present CNS data in Apert syndrome patients.
- To correlate CNS malformations with neurological and psychometric findings.
Main Methods:
- Systematic review of available literature and presentation of original case data.
- Critical review of psychometric evaluations, neurological findings, and neuropathologic reports.
Main Results:
- 30 patients exhibited malformations of the corpus callosum, limbic structures, or both.
- Other frequent findings included megalencephaly, gyral abnormalities, encephalocele, and white matter hypoplasia.
- Significant intellectual disability is prevalent, likely linked to CNS malformations.
Conclusions:
- Central nervous system malformations are a significant feature of Apert syndrome.
- These malformations are strongly associated with intellectual disability in affected individuals.
- Further research into the neurodevelopmental aspects of Apert syndrome is warranted.