title: Norman-Roberts syndrome: clinical and molecular studies.
abstract: We report on a 7-year-old boy with microcephaly, bitemporal hollowing, low sloping forehead, slightly prominent occiput, widely set eyes, broad 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 patchy pachygyria, colpocephaly, and hypoplasia of corpus callosum and brain stem, which is consistent with the diagnosis of lissencephaly type I grade 2. On the basis of his phenotypic appearance the patient is considered to have the Norman-Roberts syndrome. Molecular studies, performed by means of in situ hybridization and DNA probe analysis, did not demonstrate deletion in the Miller-Dieker/isolated Lissencephaly critical region on the short arm of chromosome 17.
authors.affiliation: Department of Paediatrics, University La Sapienza, Roma, Italy.
authors.forename: P
authors.initials: P
authors.lastname: Iannetti
authors.forename: C E
authors.initials: CE
authors.lastname: Schwartz
authors.forename: J
authors.initials: J
authors.lastname: Dietz-Band
authors.forename: E
authors.initials: E
authors.lastname: Light
authors.forename: J
authors.initials: J
authors.lastname: Timmerman
authors.forename: L
authors.initials: L
authors.lastname: Chessa
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D061085:Agenesis of Corpus Callosum; D001921:Brain / Q000002:abnormalities*; D001933:Brain Stem / Q000002:abnormalities; D002540:Cerebral Cortex / Q000002:abnormalities; D002648:Child; D002886:Chromosomes, Human, Pair 17; D015342:DNA Probes; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D013577:Syndrome
chemical_list: D015342:DNA Probes