title: Dandy-Walker variant malformation, spastic paraplegia, and mental retardation in two sibs.
abstract: Two sibs, a boy and a girl, had both hypoplasia of the cerebellar hemispheres and partial agenesis of the cerebellar vermis with normal communication between the fourth ventricle and arachnoid spaces, i.e., the manifestations of the Dandy-Walker variant malformation associated with agenesis of the corpus callosum. Both sibs were mentally retarded and had spastic paraplegia. The occurrence of a distinct and similar pattern of congenital anomalies in sibs born to healthy parents points toward a "new" syndrome caused by the homozygous state of an autosomal recessive gene. Prenatal ultrasonographic diagnosis is possible at least for the more severe form of the brain anomalies.
authors.affiliation: Institut de Puériculture, Centre Hospitalo-Universitaire, Strasbourg, France.
authors.forename: C
authors.initials: C
authors.lastname: Stoll
authors.forename: C
authors.initials: C
authors.lastname: Huber
authors.forename: Y
authors.initials: Y
authors.lastname: Alembik
authors.forename: E
authors.initials: E
authors.lastname: Terrade
authors.forename: D
authors.initials: D
authors.lastname: Maitrot
mesh_terms: D001921:Brain / Q000000981:diagnostic imaging; D002648:Child; D003616:Dandy-Walker Syndrome / Q000150:complications / Q000000981:diagnostic imaging / Q000235:genetics*; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D008607:Intellectual Disability / Q000150:complications / Q000235:genetics*; D008297:Male; D010264:Paraplegia / Q000150:complications / Q000235:genetics*; D014057:Tomography, X-Ray Computed