{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T06:06:10Z","timestamp":1761717970790},"reference-count":22,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2005,5,16]],"date-time":"2005-05-16T00:00:00Z","timestamp":1116201600000},"content-version":"vor","delay-in-days":3787,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1995,1,2]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>The Meckel syndrome (MS) is an autosomal recessive disorder classically defined by the triad of occipital encephalocele, multicystic kidneys, and polydactyly. Here we describe 3 sibs with varying manifestations of MS. The propositus had isolated cystic renal disease. The other sibs were both prenatally diagnosed with renal disease, polydactyly, and the Dandy\u2010Walker malformation, an unusual central nervous system defect in MS. These findings are discussed in the context of the phenotypic expression of MS and the nosology of this disorder and the cerebro\u2010reno\u2010digital (Meckel\u2010like) syndromes. \u00a9 1995 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.1320550116","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T17:53:19Z","timestamp":1118512399000},"page":"57-61","source":"Crossref","is-referenced-by-count":13,"title":["Dandy\u2010Walker malformation in the Meckel syndrome"],"prefix":"10.1002","volume":"55","author":[{"given":"Michael C.","family":"Summers","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alan E.","family":"Donnenfeld","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,5,16]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320280546"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320090112"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1440-1673.1992.tb03078.x"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320470111"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.3109\/15513818909037738"},{"key":"e_1_2_1_7_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_8_1","first-page":"459","article-title":"Beitrage zur Frage \u2018gekoppelter\u2019 Missbildungen (Akrocephalo\u2010Syndactylie und Dysencephalia splanchnocystica)","volume":"93","author":"Gruber GB","year":"1934","journal-title":"Beitr Pathol Anat"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.22.8.771"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320390218"},{"key":"e_1_2_1_11_1","doi-asserted-by":"crossref","first-page":"237","DOI":"10.1542\/peds.48.2.237","article-title":"Genetics of the Meckel syndrome (dysencephalia splanchnocystica)","volume":"48","author":"Hsia YE","year":"1971","journal-title":"Pediatrics"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1093\/ajcp\/84.4.459"},{"key":"e_1_2_1_13_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1991.tb02995.x"},{"key":"e_1_2_1_14_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_15_1","first-page":"99","article-title":"Beschreibung zweier, durch sehr ahnliche Bildungsabweichungen entstellter Geschwister","volume":"7","author":"Meckel JF","year":"1822","journal-title":"Dtsch Arch Physiol"},{"key":"e_1_2_1_16_1","first-page":"483","article-title":"Familial renal dysplasia. Microdissection studies in siblings with associated central nervous system and hepatic malformations","volume":"93","author":"Miranda D","year":"1972","journal-title":"Arch Pathol"},{"key":"e_1_2_1_17_1","doi-asserted-by":"publisher","DOI":"10.7863\/jum.1990.9.12.691"},{"key":"e_1_2_1_18_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0002-9378(11)90797-2"},{"key":"e_1_2_1_19_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320180414"},{"key":"e_1_2_1_20_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320430415"},{"key":"e_1_2_1_21_1","first-page":"89","article-title":"Dandy\u2010Walker syndrome: Analysis of 21 cases","volume":"22","author":"Tal Y","year":"1980","journal-title":"Dev Med Child Neurol"},{"key":"e_1_2_1_22_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320390310"},{"key":"e_1_2_1_23_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.1320550116","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320550116","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,25]],"date-time":"2023-10-25T19:07:54Z","timestamp":1698260874000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320550116"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1995,1,2]]},"references-count":22,"journal-issue":{"issue":"1","published-print":{"date-parts":[[1995,1,2]]}},"alternative-id":["10.1002\/ajmg.1320550116"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320550116","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1995,1,2]]}}}