{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,23]],"date-time":"2026-01-23T21:35:04Z","timestamp":1769204104995,"version":"3.49.0"},"reference-count":17,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2005,6,3]],"date-time":"2005-06-03T00:00:00Z","timestamp":1117756800000},"content-version":"vor","delay-in-days":5116,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1991,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Dandy\u2010Walker malformation is an unusual finding in Meckel syndrome, which characteristically presents with encephalocele, polydactyly, and cystic renal disease. We report on a family in which three nonviable brothers had Dandy\u2010Walker malformations (variant) with associated enlarged cystic dysplastic kidneys and hepatic fibrosis. The consistent segregation of these abnormalities in all three sibs in the absence of polydactyly and encephalocele suggested the possibility of a distinct syndrome. The clinicopathological findings of the disorder are described and discussed in the context of the phenotypic spectrum of Meckel syndrome.<\/jats:p>","DOI":"10.1002\/ajmg.1320390310","type":"journal-article","created":{"date-parts":[[2005,6,12]],"date-time":"2005-06-12T03:23:20Z","timestamp":1118546600000},"page":"294-298","source":"Crossref","is-referenced-by-count":23,"title":["Dandy\u2010Walker malformation (variant), cystic dysplastic kidneys, and hepatic fibrosis: A distinct entity or Meckel syndrome?"],"prefix":"10.1002","volume":"39","author":[{"given":"Ian R.","family":"Walpole","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jack","family":"Goldblatt","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Athel","family":"Hockey","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Simon","family":"Knowles","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,6,3]]},"reference":[{"key":"e_1_2_1_2_1","series-title":"BD:OAS","first-page":"145","volume-title":"Dysmorphology","author":"Anderson VM","year":"1982"},{"key":"e_1_2_1_3_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 absence of foramen Magendie","volume":"13","author":"Benda CE","year":"1954","journal-title":"J Neuropath Exp Neurol"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320280546"},{"key":"e_1_2_1_5_1","series-title":"BD:OAS","first-page":"115","volume-title":"Genetic Aspects of Developmental Pathology","author":"Bernstein J","year":"1987"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1977.tb01314.x"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1001\/archpedi.1914.02180010416002"},{"key":"e_1_2_1_8_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_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320090112"},{"key":"e_1_2_1_10_1","first-page":"484","article-title":"Neonatal polycystic kidney with brain defect","volume":"106","author":"Goldston AS","year":"1963","journal-title":"Am J Dis Child"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.22.8.771"},{"key":"e_1_2_1_12_1","first-page":"97","article-title":"Encephalocele, polycystic kidneys, and polydactyly as an autosomal recessive trait simulating certain other disorders: The Meckel syndrome","volume":"14","author":"Mecke S","year":"1971","journal-title":"Ann Genet"},{"key":"e_1_2_1_13_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00333528"},{"key":"e_1_2_1_14_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1985.tb00401.x"},{"key":"e_1_2_1_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320180414"},{"key":"e_1_2_1_16_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1981.tb01811.x"},{"key":"e_1_2_1_17_1","first-page":"103","article-title":"Cystic malformations of the posterior fossa","volume":"9","author":"Raybaud C","year":"1982","journal-title":"J Neuroradiology"},{"key":"e_1_2_1_18_1","doi-asserted-by":"publisher","DOI":"10.1001\/archneurpsyc.1942.02290100083008"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320390310","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320390310","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,23]],"date-time":"2023-10-23T02:40:03Z","timestamp":1698028803000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320390310"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1991,6]]},"references-count":17,"journal-issue":{"issue":"3","published-print":{"date-parts":[[1991,6]]}},"alternative-id":["10.1002\/ajmg.1320390310"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320390310","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1991,6]]}}}