title: Oligoyric microcephaly in a child with Williams syndrome.
abstract: We report a 19-month-old boy with microcephaly, growth and developmental delay, facial dysmorphisms, and simplified gyral pattern. Magnetic resonance imaging (MRI) examination demonstrated microcephaly with simplified gyral pattern or oligogyric microcephaly. The facial phenotype was interpreted as suggestive of Williams syndrome (WS). Fluorescence in situ hybridization (FISH) analysis performed with an elastin probe revealed a deletion in the chromosomal band 7q 11.23, confirming the clinical diagnosis. To our knowledge, this represents the first patient with WS and oligogyric microcephaly.
authors.affiliation: Department of Pediatric Neurology, Besta Institute, Milan, Italy.
authors.forename: Francesca
authors.initials: F
authors.lastname: Faravelli
authors.forename: Stefano
authors.initials: S
authors.lastname: D'Arrigo
authors.forename: Irene
authors.initials: I
authors.lastname: Bagnasco
authors.forename: Angelo
authors.initials: A
authors.lastname: Selicorni
authors.forename: Ludovico
authors.initials: L
authors.lastname: D'Incerti
authors.forename: Daria
authors.initials: D
authors.lastname: Riva
authors.forename: Chiara
authors.initials: C
authors.lastname: Pantaleoni
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics / Q000473:pathology; D002872:Chromosome Deletion; D002897:Chromosomes, Human, Pair 7 / Q000235:genetics; D006130:Growth Disorders / Q000473:pathology; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D008297:Male; D008831:Microcephaly / Q000473:pathology*; D018980:Williams Syndrome / Q000235:genetics / Q000473:pathology*