NORMAN-ROBERTS SYNDROME - CLINICAL AND MOLECULAR STUDIES

We report on a 7-year-old boy with microcephaly, bitemporal hollowing, low sloping forehead, slightly prominent occiput, widely set eyes, br oad and prominent nasal bridge, and severe postnatal growth deficiency . Hypertonia, hyperreflexia, seizures, and profound mental retardation were also present. Brain MRI documented partial agyric cortex with pa tchy pachygyria, colpocephaly, and hypoplasia of corpus callosum and b rain stem, which is consistent with the diagnosis of lissencephaly typ e I grade 2. On the basis of his phenotypic appearance the patient is considered to have the Norman-Roberts syndrome. Molecular studies, per formed by means of in situ hybridization and DNA probe analysis, did n ot demonstrate deletion in the Miller-Dieker/isolated Lissencephaly cr itical region on the short arm of chromosome 17. (C) 1993 Wiley-Liss, Inc.