title: Bilateral periventricular nodular heterotopia with mental retardation and syndactyly in boys: a new X-linked mental retardation syndrome.
abstract: Bilateral periventricular nodular heterotopia (BPNH) is a recently recognized malformation of neuronal migration, and perhaps proliferation, in which nodular masses of gray matter line the walls of the lateral ventricles. Most affected individuals have epilepsy and normal intelligence with no other congenital anomalies. A striking skew of the sex ratio has been observed because 31 of 38 probands have been female, and one gene associated with BPNH was recently mapped to chromosome Xq28. We report three unrelated boys with a new multiple congenital anomaly-mental retardation syndrome that consists of BPNH, cerebellar hypoplasia, severe mental retardation, epilepsy, and syndactyly. Variable abnormalities included focal or regional cortical dysplasia, cataracts, and hypospadius. We hypothesize that this syndrome involves the same Xq28 locus as isolated BPNH, and we review the expanding number of syndromes associated with BPNH.
authors.affiliation: Department of Neurology, and Institute of Human Genetics, University of Minnesota Medical School, Minneapolis, USA.
authors.forename: W B
authors.initials: WB
authors.lastname: Dobyns
authors.forename: R
authors.initials: R
authors.lastname: Guerrini
authors.forename: D K
authors.initials: DK
authors.lastname: Czapansky-Beilman
authors.forename: M E
authors.initials: ME
authors.lastname: Pierpont
authors.forename: G
authors.initials: G
authors.lastname: Breningstall
authors.forename: D H
authors.initials: DH
authors.lastname: Yock
authors.forename: P
authors.initials: P
authors.lastname: Bonanni
authors.forename: C L
authors.initials: CL
authors.lastname: Truwit
mesh_terms: D000293:Adolescent; D001927:Brain Diseases / Q000175:diagnosis / Q000235:genetics; D002552:Cerebral Ventricles; D002675:Child, Preschool; D002828:Choristoma / Q000235:genetics*; D008040:Genetic Linkage; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D008279:Magnetic Resonance Imaging; D008297:Male; D010487:Periaqueductal Gray; D013576:Syndactyly / Q000235:genetics* / Q000473:pathology; D013577:Syndrome; D014960:X Chromosome