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The craniofacial findings include macrocephaly, a prominent forehead and occiput, foramina pari\u2010etalia, hypertelorism, downslanting palpebral fissures, a depressed nasal bridge, narrow palate, and apparently low\u2010set ears. Patient 1 had a Dandy\u2010Walker malformation with communicating hydrocephalus, aplasia of the posterior portion of the cerebellar vermis, and high insertion of the confluent sinus, while in patient 2, a Dandy\u2010Walker variant was found with aplasia of the cerebellar vermis and hypo\u2010plasia of the hemispheres, large cisterna magna, high insertion of the confluent sinus, but no hydrocephalus. Both sibs were moderately mentally retarded. The older sister had a complete atrio\u2010ventricular canal and died after unsuccessful heart operation at 31\/2 years. The younger had a successful operation on a cleft mitral valve and septum primum defect. Chromosomes were normal. The occur\u2010rence of a distinct and similar pattern of congenital anomalies in sisters born to healthy parents points toward a \u201cnew\u201d syndrome caused by the homozygous state of an autosomal recessive gene.<\/jats:p>","DOI":"10.1002\/ajmg.1320260227","type":"journal-article","created":{"date-parts":[[2005,6,12]],"date-time":"2005-06-12T02:46:36Z","timestamp":1118544396000},"page":"481-491","source":"Crossref","is-referenced-by-count":70,"title":["Dandy\u2010Walker (like) malformation, atrio\u2010ventricular septal defect and a similar pattern of minor anomalies in 2 sisters: A new syndrome?"],"prefix":"10.1002","volume":"26","author":[{"given":"Daniel","family":"Ritscher","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Albert","family":"Schinzel","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eugen","family":"Boltshauser","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jakob","family":"Briner","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Urs","family":"Arbenz","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Peter","family":"Sigg","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,6,4]]},"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 or 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":"10.1055\/s-2008-1059650"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.1970040512"},{"key":"e_1_2_1_6_1","first-page":"369","article-title":"Indagine citogenetica in una sindrome di Dandy\u2010Walker familiare","volume":"5","author":"Carnelli V","year":"1979","journal-title":"Riv Ital Pediatr"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320060407"},{"key":"e_1_2_1_8_1","first-page":"25S","article-title":"Enlarged fetal cisterna magna: Appearance and significance","volume":"3","author":"Comstock CH","year":"1985","journal-title":"Obstet Gynecol (66)"},{"key":"e_1_2_1_9_1","first-page":"112","article-title":"The diagnosis and treatment of hydrocephalus due to occlusions of the foramina of Magendie and Luschka","volume":"32","author":"Dandy WE","year":"1921","journal-title":"Surg Gynecol Obstet"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1001\/archpedi.1914.02180010416002"},{"key":"e_1_2_1_11_1","doi-asserted-by":"crossref","DOI":"10.1007\/978-3-7091-3338-5","volume-title":"Developmental Neuropathology","author":"Friede RL","year":"1975"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1469-8749.1978.tb15307.x"},{"key":"e_1_2_1_13_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_14_1","first-page":"253","article-title":"Zur Diagnostik infratentorieller Fehlbildungen beim S\u00e4ugling","volume":"15","author":"Hammer B","year":"1980","journal-title":"Paediatr Paedol"},{"key":"e_1_2_1_15_1","first-page":"715","article-title":"Le syndrome de Joubert. 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