FANCONI ANEMIA: A MODEL FOR GENETIC CAUSES OF ABNORMAL BRAIN DEVELOPMENT
| Autor: | Steven G. Pavlakis, Andrew D. Auerbach, R. J. Gould, Philip F Giampietro, Jessica G. Davis, B Adler-Brecher, Christine L. Frissora |
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| Rok vydání: | 2008 |
| Předmět: |
Male
congenital hereditary and neonatal diseases and abnormalities medicine.medical_specialty Pathology Adolescent Genetic Linkage Chromosomes Human Pair 20 Chromosome Disorders Genes Recessive Neuropathology Developmental Neuroscience Holoprosencephaly Risk Factors Fanconi anemia hemic and lymphatic diseases medicine Humans Abnormalities Multiple Child Agenesis of the corpus callosum Septum pellucidum Chromosome Aberrations business.industry Infant Newborn Genetic disorder Brain Infant nutritional and metabolic diseases medicine.disease Hydrocephalus Surgery Fanconi Anemia Aqueductal stenosis Child Preschool Pediatrics Perinatology and Child Health Female Neurology (clinical) business |
| Zdroj: | Developmental Medicine & Child Neurology. 34:1081-1084 |
| ISSN: | 1469-8749 0012-1622 |
| DOI: | 10.1111/j.1469-8749.1992.tb11420.x |
| Popis: | Fanconi anemia is an autosomal recessive disease resulting in bone-marrow failure, phenotypical abnormalities and predisposition to malignancy. The authors reviewed 257 clinical and neuropathology results from the International Fanconi Anemia Registry at The Rockefeller University. Two patients had hydrocephalus and ventriculoperitoneal shunts. Of 15 neuropathology reports, 10 found CNS abnormalities, with the most common--ventriculomegaly--seen in six, two of whom required shunts. Aqueductal stenosis, agenesis of the corpus callosum and septum pellucidum, and holoprosencephaly were found. The authors conclude that neurological derangements are probably more common in Fanconi anemia than previously recognised. Fanconi anemia cells in culture are highly sensitive to oxidative stress and alkylating agents; Fanconi anemia may provide a model for a genetic disorder potentially predisposing to environmental insults. |
| Databáze: | OpenAIRE |
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