Microlissencephaly with cardiac, spinal and urogenital defects
R J Gardner1, R Savarirayan, K B Dunne
1Victorian Clinical Genetics Services, Royal Children's Hospital, Melbourne, Australia.
Clinical Dysmorphology
|July 12, 2001
Abstract:
We describe two children with a brain defect similar to that described as 'microlissencephaly', as defined in Barkovich et aL [(1998) Neuroped 29: 113-119]. Concomitant malformations (cardiac, spinal, urogenital) may represent components of a wider syndrome complex; alternatively, or additionally, there may have been a valproate teratogenic effect. The inheritance is likely to be autosomal recessive, although X-linkage cannot be excluded.
