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Genet."],"published-print":{"date-parts":[[1990,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Two sibs, a boy and a girl, had both hypo\u2010plasia 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\u2010Walker variant malformation associated with agenesis of the corpus callosum.<\/jats:p><jats:p>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 \u201cnew\u201d 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.<\/jats:p>","DOI":"10.1002\/ajmg.1320370129","type":"journal-article","created":{"date-parts":[[2005,6,12]],"date-time":"2005-06-12T03:51:50Z","timestamp":1118548310000},"page":"124-127","source":"Crossref","is-referenced-by-count":9,"title":["Dandy\u2010walker variant malformation, spastic paraplegia, and mental retardation in two sibs"],"prefix":"10.1002","volume":"37","author":[{"given":"Claude","family":"Stoll","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christian","family":"Huber","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yves","family":"Alembik","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eliette","family":"Terrade","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daniel","family":"Maitrot","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2005,6,8]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"crossref","first-page":"14","DOI":"10.1093\/jnen\/13.1.14","article-title":"The Dandy\u2010Walker syndrome on the so called atresia of the foramen of Magendie","volume":"13","author":"Benda CE","year":"1954","journal-title":"J Neuropathol Exp Neurol"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1001\/archpedi.1971.02110030125024"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.1970040512"},{"key":"e_1_2_1_5_1","first-page":"369","article-title":"Indagine citogenetics in una sindrome di Dandy\u2010Walker familiare","volume":"5","author":"Carnelli V","year":"1979","journal-title":"Rev Ital Pediatr"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320060407"},{"key":"e_1_2_1_7_1","first-page":"112","article-title":"The diagnosis and treatment of hydrocephalus due to occlusions of the foramina of Magendie and Luscka","volume":"32","author":"Dandy WE","year":"1921","journal-title":"Surg Gynaecol Obstet"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1001\/archpedi.1914.02180010416002"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1007\/978-3-7091-3338-5_1"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1469-8749.1978.tb15307.x"},{"key":"e_1_2_1_11_1","first-page":"200","article-title":"Hydrodynamic factors in Dandy\u2010Walker and Arnold\u2010Chiari malformations","volume":"3","author":"Gardner WJ","year":"1977","journal-title":"Childs Brain"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1989.tb02915.x"},{"key":"e_1_2_1_13_1","first-page":"174","volume-title":"The Hereditary Ataxias and Related Disorders","author":"Harding AE","year":"1984"},{"key":"e_1_2_1_14_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.22.8.771"},{"key":"e_1_2_1_15_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.31.3.337"},{"key":"e_1_2_1_16_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.19.9.813"},{"key":"e_1_2_1_17_1","doi-asserted-by":"publisher","DOI":"10.1227\/00006123-198106000-00015"},{"key":"e_1_2_1_18_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1985.tb00401.x"},{"key":"e_1_2_1_19_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.32.2.180"},{"key":"e_1_2_1_20_1","first-page":"173","article-title":"Dandy\u2010Walker malformation and associated cardiac anomalies","volume":"8","author":"Olson GS","year":"1981","journal-title":"Childs Brain"},{"key":"e_1_2_1_21_1","doi-asserted-by":"publisher","DOI":"10.3171\/jns.1969.31.2.0202"},{"key":"e_1_2_1_22_1","first-page":"103","article-title":"Cystic malformations of the posterior fossa. 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