The complexity of brain anomalies underlies the difficulty in recognizing associated syndromes and categorizing the phenotypic variability recognized in genetic mutations. Recent advances in description of the anomalies and molecular studies are allowing a better understanding of the causal heterogeneity of these malformations. This should allow for better prognostic information, recurrence risk counseling and testing for families of children with these major brain anomalies.
1. Barkovich AJ, Ferriero DM, Barr RM et al. Microlissencephaly: A heterogeneous malformation of cortical development. Neuropediatrics 1998; 29:113-119.
2. Dobyns WB, Truwit CL, Ross ME et al. Differences in the gyral pattern distinguish chromosome 17-linked and X-linked lissencephaly. Neurology 1999; 53:270-277.
3. Lacey DJ. Agenesis of the corpus callosum. Clinical features in 40 children. Am J Dis Child 1985; 139:953-955.
4. Sarnat HB. Molecular genetic classification of central nervous system malformations. J Child Neurol 2000; 15:675-687.
5. Tanaka T, Gleeson JG. Genetics of brain development and malformation syndromes. Curr Opin Pediatr 2000; 12:523-528.
6. Wallis D, Muenke M. Mutations in holoprosencephaly. Hum Mutat 2000; 16:99-108.
Was this article helpful?