{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,23]],"date-time":"2026-01-23T10:21:59Z","timestamp":1769163719976,"version":"3.49.0"},"reference-count":125,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2005,6,7]],"date-time":"2005-06-07T00:00:00Z","timestamp":1118102400000},"content-version":"vor","delay-in-days":3902,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1994,10]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Brothers are reported with an apparently new constellation of manifestations including Dandy\u2010Walker complex (DWC), migrational brain disorder, macrocephaly, and facial anomalies. The first brother presented at birth, the second was detected prenatally with DWC and the pregnancy terminated. Fetal brain histopathology showed DWC associated with brainstem dysgenesis. Inheritance is likely autosomal or X\u2010linked recessive. An extensive review of the differential diagnosis of DWC is provided. \u00a9 1994 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.1320520404","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T17:44:49Z","timestamp":1118511889000},"page":"406-415","source":"Crossref","is-referenced-by-count":31,"title":["Familial Dandy\u2010Walker malformation associated with macrocephaly, facial anomalies, developmental delay, and brain stem dysgenesis: Prenatal diagnosis and postnatal outcome in brothers. A new syndrome?"],"prefix":"10.1002","volume":"52","author":[{"given":"David","family":"Chitayat","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lori","family":"Moore","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marc R.","family":"Del Bigio","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Daune","family":"MacGregor","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bruria","family":"Ben\u2010Zeev","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kathy","family":"Hodgkinson","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"John","family":"Deck","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tammy","family":"Stothers","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Susan","family":"Ritchie","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ants","family":"Toi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,6,7]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.30.9.788"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1097\/00005072-199011000-00007"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320270208"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00441665"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.25.11.773"},{"key":"e_1_2_1_7_1","first-page":"325","article-title":"Some examples of the inheritance of mental deficiency: Apparently sex\u2010linked idiocy and microcephaly","volume":"48","author":"Allan W","year":"1944","journal-title":"Am J Ment Defic"},{"key":"e_1_2_1_8_1","first-page":"691","article-title":"Posterior fossa malformations","volume":"13","author":"Altman NR","year":"1992","journal-title":"AJNR"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1990.tb03549.x"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1159\/000120445"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320190322"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320270421"},{"key":"e_1_2_1_13_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.27.12.788"},{"key":"e_1_2_1_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320280321"},{"key":"e_1_2_1_15_1","first-page":"977","article-title":"Revised classification of posterior fossa cysts and cystlike malformations based on the results of multiplanar MR imaging","volume":"10","author":"Barkovich AJ","year":"1989","journal-title":"AJNR"},{"key":"e_1_2_1_16_1","doi-asserted-by":"publisher","DOI":"10.1055\/s-2008-1057268"},{"key":"e_1_2_1_17_1","first-page":"251","volume-title":"Comparative Studies of Infants With Mosaic and Complete Triploidy: An Analysis of 55 Cases","author":"Blackburn WR","year":"1982"},{"key":"e_1_2_1_18_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1651-2227.1991.tb12024.x"},{"key":"e_1_2_1_19_1","doi-asserted-by":"publisher","DOI":"10.1055\/s-0028-1091505"},{"key":"e_1_2_1_20_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320330327"},{"key":"e_1_2_1_21_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320470512"},{"key":"e_1_2_1_22_1","doi-asserted-by":"publisher","DOI":"10.1597\/1545-1569(1990)027<0415:AAAMAC>2.3.CO;2"},{"key":"e_1_2_1_23_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF01846033"},{"key":"e_1_2_1_24_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.1970130202"},{"key":"e_1_2_1_25_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1989.tb03375.x"},{"key":"e_1_2_1_26_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320260211"},{"key":"e_1_2_1_27_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.29.6.434"},{"key":"e_1_2_1_28_1","doi-asserted-by":"crossref","first-page":"155","DOI":"10.1542\/peds.57.1.155","article-title":"Cerebellar hypoplasia in an infant with congenital cytomegalovirus infection","volume":"57","author":"Ceballos R","year":"1976","journal-title":"Pediatrics"},{"key":"e_1_2_1_29_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1975.tb00345.x"},{"key":"e_1_2_1_30_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF01799632"},{"key":"e_1_2_1_31_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320440507"},{"key":"e_1_2_1_32_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(78)80072-9"},{"key":"e_1_2_1_33_1","first-page":"573","volume-title":"Craniosynostosis: Diagnosis, evaluation, and management","author":"Cohen MM","year":"1986"},{"key":"e_1_2_1_34_1","doi-asserted-by":"crossref","first-page":"450","DOI":"10.1542\/peds.76.3.450","article-title":"Aicardi syndrome in one dizygotic twin","volume":"76","author":"Constad WH","year":"1985","journal-title":"Pediatrics"},{"key":"e_1_2_1_35_1","first-page":"56","article-title":"Coexistance of Dandy\u2010Walker syndrome and Down's syndrome","volume":"32","author":"Constantini S","year":"1989","journal-title":"Neurochirurgia (Stuttg)"},{"key":"e_1_2_1_36_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.1970130203"},{"key":"e_1_2_1_37_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320260110"},{"key":"e_1_2_1_38_1","doi-asserted-by":"publisher","DOI":"10.1001\/archpedi.1914.02180010416002"},{"key":"e_1_2_1_39_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1991.tb03047.x"},{"key":"e_1_2_1_40_1","doi-asserted-by":"publisher","DOI":"10.1016\/0002-9394(69)93443-6"},{"key":"e_1_2_1_41_1","first-page":"113","volume-title":"Ultrasonography and Obstetrics and Gynecology","author":"Deter RL","year":"1983"},{"key":"e_1_2_1_42_1","first-page":"261","article-title":"Familial juvenile nephronophthisis with hepatic fibrosis and neurocutaneous dysplasia","volume":"35","author":"Diederich E","year":"1980","journal-title":"Helv Paediatr Acta"},{"key":"e_1_2_1_43_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320220118"},{"key":"e_1_2_1_44_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320320213"},{"key":"e_1_2_1_45_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1651-2227.1990.tb11370.x"},{"key":"e_1_2_1_46_1","first-page":"8","article-title":"Ocular defects and dysmorphic features in three generations","volume":"2","author":"Edwards JG","year":"1984","journal-title":"J Clin Dysmorph"},{"key":"e_1_2_1_47_1","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp.45.8.737"},{"key":"e_1_2_1_48_1","doi-asserted-by":"publisher","DOI":"10.1148\/radiology.185.3.1438757"},{"key":"e_1_2_1_49_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320400403"},{"key":"e_1_2_1_50_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1525-1470.1989.tb00916.x"},{"key":"e_1_2_1_51_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1469-8749.1978.tb15308.x"},{"key":"e_1_2_1_52_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320470111"},{"key":"e_1_2_1_53_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320460318"},{"key":"e_1_2_1_54_1","doi-asserted-by":"publisher","DOI":"10.3109\/15513818909037738"},{"key":"e_1_2_1_55_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320430603"},{"key":"e_1_2_1_56_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320450527"},{"key":"e_1_2_1_57_1","doi-asserted-by":"publisher","DOI":"10.1097\/00005072-197107000-00006"},{"key":"e_1_2_1_58_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.22.8.771"},{"key":"e_1_2_1_59_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320350325"},{"key":"e_1_2_1_60_1","doi-asserted-by":"crossref","first-page":"74","DOI":"10.1111\/j.1399-0004.1992.tb03636.x","article-title":"A lethal syndrome resembling branchio\u2010oculo\u2010facial syndrome","volume":"41","author":"Hing AV","year":"1992","journal-title":"Clin Genet"},{"key":"e_1_2_1_61_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320410214"},{"key":"e_1_2_1_62_1","first-page":"1058","article-title":"An infantile autistic syndrome characterized by the presence of succinylpurines in body fluids","volume":"2","author":"Jaeken J","year":"1984","journal-title":"Lancet"},{"key":"e_1_2_1_63_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1991.tb02986.x"},{"key":"e_1_2_1_64_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00691645"},{"key":"e_1_2_1_65_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.31.3.337"},{"key":"e_1_2_1_66_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1525-1470.1992.tb00323.x"},{"key":"e_1_2_1_67_1","doi-asserted-by":"publisher","DOI":"10.1002\/tera.1420320302"},{"key":"e_1_2_1_68_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1442-200X.1990.tb00883.x"},{"key":"e_1_2_1_69_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1989.tb03190.x"},{"key":"e_1_2_1_70_1","first-page":"150","article-title":"Bilateral cystic nephroblastoma and botryoid sarcoma in a child with Dandy\u2010Walker syndrome","volume":"110","author":"Kinoshita T","year":"1986","journal-title":"Arch Pathol Lab Med"},{"key":"e_1_2_1_71_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1987.tb03323.x"},{"key":"e_1_2_1_72_1","doi-asserted-by":"publisher","DOI":"10.1093\/ajcp\/84.4.459"},{"key":"e_1_2_1_73_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00262269"},{"key":"e_1_2_1_74_1","doi-asserted-by":"publisher","DOI":"10.3171\/jns.1979.50.3.0382"},{"key":"e_1_2_1_75_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM198510033131401"},{"key":"e_1_2_1_76_1","doi-asserted-by":"publisher","DOI":"10.1227\/00006123-198106000-00015"},{"key":"e_1_2_1_77_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320390303"},{"key":"e_1_2_1_78_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320370303"},{"issue":"5","key":"e_1_2_1_79_1","first-page":"111","article-title":"Spectrum of neural\u2010tube defects in 34 infants prenatally exposed to antiepileptic drugs","volume":"42","author":"Lindhout D","year":"1992","journal-title":"Neurology"},{"key":"e_1_2_1_80_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(78)80444-2"},{"key":"e_1_2_1_81_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.8.4.261"},{"key":"e_1_2_1_82_1","doi-asserted-by":"publisher","DOI":"10.1159\/000120300"},{"key":"e_1_2_1_83_1","first-page":"381","article-title":"Rubinstein\u2010Taybi syndrome associated with Dandy\u2010Walker cyst. Case report in a newborn","volume":"17","author":"Mazzone D","year":"1989","journal-title":"J Perinat Med"},{"key":"e_1_2_1_84_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.27.3.200"},{"key":"e_1_2_1_85_1","unstructured":"MeineckeP PfeifferRA(1990):Blepharophimosis joint contractures short stature severe mental retardation and complex brain malformation. A \u2018new\u2019 MCA\/MR syndrome?. Proceedings of the First European Meeting on Dysmorphology Zaragozza: pp46\u201348."},{"key":"e_1_2_1_86_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320310413"},{"key":"e_1_2_1_87_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1985.tb00204.x"},{"key":"e_1_2_1_88_1","doi-asserted-by":"publisher","DOI":"10.1002\/path.1711150407"},{"key":"e_1_2_1_89_1","first-page":"A294","article-title":"Dandy\u2010Walker malformation associated with partial trisomy 12p","volume":"51","author":"Muneer RS","year":"1992","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_90_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1985.tb00401.x"},{"key":"e_1_2_1_91_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0046-8177(85)80166-0"},{"key":"e_1_2_1_92_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.32.2.180"},{"key":"e_1_2_1_93_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF02129071"},{"key":"e_1_2_1_94_1","doi-asserted-by":"publisher","DOI":"10.1159\/000120409"},{"key":"e_1_2_1_95_1","doi-asserted-by":"publisher","DOI":"10.3171\/jns.1979.51.6.0862"},{"key":"e_1_2_1_96_1","first-page":"436","article-title":"Enlarged cisterna magna and Dandy\u2010Walker malformation: Factors associated with chromosome abnormalities","volume":"77","author":"Nyberg DA","year":"1991","journal-title":"Obstet Gynecol"},{"key":"e_1_2_1_97_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1985.tb00420.x"},{"key":"e_1_2_1_98_1","doi-asserted-by":"crossref","first-page":"87","DOI":"10.1111\/j.1399-0004.1992.tb03639.x","article-title":"Oculocerebral syndrome with hypopigmentation (Cross syndrome): Report of a new case","volume":"41","author":"Pessagno LM","year":"1992","journal-title":"Clin Genet"},{"key":"e_1_2_1_99_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320380206"},{"key":"e_1_2_1_100_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320290422"},{"key":"e_1_2_1_101_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320330414"},{"key":"e_1_2_1_102_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(05)83420-1"},{"key":"e_1_2_1_103_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0387-7604(83)80008-4"},{"key":"e_1_2_1_104_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1978.tb04143.x"},{"key":"e_1_2_1_105_1","doi-asserted-by":"publisher","DOI":"10.1159\/000120467"},{"key":"e_1_2_1_106_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320260227"},{"key":"e_1_2_1_107_1","doi-asserted-by":"publisher","DOI":"10.1016\/0002-9378(89)90531-0"},{"key":"e_1_2_1_108_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(71)80155-5"},{"key":"e_1_2_1_109_1","first-page":"433","article-title":"Rare combination of neurofibromatosis and Dandy\u2010Walker syndrome (German)","volume":"13","author":"Sander A","year":"1989","journal-title":"Deutsche Zeitschrift Fur Mund\u2010, Kiefer\u2010, Und Gesichts\u2010Chirurgie"},{"key":"e_1_2_1_110_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320430319"},{"key":"e_1_2_1_111_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.1970030115"},{"key":"e_1_2_1_112_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.30.10.870"},{"key":"e_1_2_1_113_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320370129"},{"key":"e_1_2_1_114_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1469-8749.1980.tb04327.x"},{"key":"e_1_2_1_115_1","first-page":"1465A","article-title":"Prenatal diagnosis of the Dandy Walker variant. An abnormality or a transient finding","volume":"53","author":"Toi A","year":"1993","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_116_1","first-page":"35","article-title":"Dystrophic thoracique asphyxiate de Jeune associee a une hypoplasie ductulaire hepatique, une agenesic du corps callcux et un syndrome de Dandy\u2010Walker","volume":"45","author":"Trabelsi M","year":"1990","journal-title":"Pediatrics"},{"key":"e_1_2_1_117_1","first-page":"393","article-title":"The Coffin\u2010Siris syndrome","volume":"132","author":"Tunnessen WW","year":"1978","journal-title":"A J Dis Child"},{"key":"e_1_2_1_118_1","first-page":"100","article-title":"Joubert syndrome: A clinical and pathological description of an affected male and a female fetus from the same sibship","volume":"40","author":"van Dorp DB","year":"1991","journal-title":"A J Dis Child"},{"key":"e_1_2_1_119_1","volume-title":"London Dysmorphology Database","author":"Van Staey M","year":"1990"},{"key":"e_1_2_1_120_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320420209"},{"key":"e_1_2_1_121_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320320217"},{"key":"e_1_2_1_122_1","first-page":"47","article-title":"Macrocephaly and mental retardation. The unique association with short stature, spastic paraplegia and CNS malformations","volume":"4","author":"Volcke P","year":"1993","journal-title":"Genet Couns"},{"key":"e_1_2_1_123_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320390310"},{"key":"e_1_2_1_124_1","first-page":"A44","article-title":"Interstitial deletion of chromosome 3q with Dandy\u2010Walker syndrome","volume":"47","author":"Willner JP","year":"1990","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_125_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(68)80404-4"},{"key":"e_1_2_1_126_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320310114"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320520404","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320520404","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,24]],"date-time":"2023-10-24T23:36:03Z","timestamp":1698190563000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320520404"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1994,10]]},"references-count":125,"journal-issue":{"issue":"4","published-print":{"date-parts":[[1994,10]]}},"alternative-id":["10.1002\/ajmg.1320520404"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320520404","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1994,10]]}}}