{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T04:40:02Z","timestamp":1760762402977,"version":"build-2065373602"},"reference-count":11,"publisher":"BMJ","issue":"3","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1978,6]]},"abstract":"<jats:p>A Pakistani couple, who were first cousins once removed through their fathers, and whose mothers were also related, had two liveborn children, a boy and a girl. Both children died within 2 hours of birth with occipital encephalocele, microcephaly, polycystic kidneys, and cystic distension of intrahepatic bile ducts. Both children had normal karyotypes. These abnormalities constitute Meckel's syndrome (dysencephalia splanchno-cystica); this is the fifth report of parental consanguinity, adding further support to the evidence for autosomal recessive inheritance of the disorder.<\/jats:p>","DOI":"10.1136\/jmg.15.3.242","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T14:50:51Z","timestamp":1226328651000},"page":"242-245","source":"Crossref","is-referenced-by-count":17,"title":["Meckel's syndrome (dysencephalia splanchno-cystica) in two Pakistani sibs."],"prefix":"10.1136","volume":"15","author":[{"family":"Crawfurd MdA","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"P","family":"Jackson","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"H G","family":"Kohler","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1978,6,1]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"234","DOI":"10.1136\/jmg.11.3.234","article-title":"Comments upon the classification of infantile polycystic diseases of the liver and kidney, based upon three-dimensional reconstruction of the liver","volume":"11","author":"Adams, C.M.; Danks, D.M.; Campbell, P.E.","year":"1974","unstructured":"Adams, C. M., Danks, D. M., and Campbell, P. E. (1974). Comments upon the classification of infantile polycystic diseases of the liver and kidney, based upon three-dimensional reconstruction of the liver. Journal ofMedical Genetics, 11, 234-243.","journal-title":"Journal ofMedical Genetics"},{"key":"ref_2","first-page":"9","article-title":"Relatively high prevalence of Meckel syndrome among Jews","volume":"9","author":"Fried, K.","year":"1973","unstructured":"Fried, K. (1973). Relatively high prevalence of Meckel syndrome among Jews. Israel Journal ofMedical Sciences, 9, 9-10.","journal-title":"Israel Journal ofMedical Sciences"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"285","DOI":"10.1136\/jmg.8.3.285","article-title":"Polycystic kidneys associated with malformations of the brain, polydactyly and other birth defects in newborn sibs. A lethal syndrome showing autosomal recessive inheritance","volume":"8","author":"Fried, K.; Liban, E.; Lurie, M.; Friedman, S.; Reisner, S.H.","year":"1971","unstructured":"Fried, K., Liban, E., Lurie, M., Friedman, S., and Reisner, S. H. (1971). Polycystic kidneys associated with malformations of the brain, polydactyly and other birth defects in newborn sibs. A lethal syndrome showing autosomal recessive inheritance. Journal ofMedical Genetics, 8, 285-290.","journal-title":"Journal ofMedical Genetics"},{"key":"ref_4","first-page":"93","article-title":"Beitrage zur Frage 'Gekoppelter', Missbildungen (Akrocephalosyndactylie und Dysencephalia splanchnocystica). Beitrage zur pathologischen Anatomie","author":"Gruber, G.B.","year":"1934","unstructured":"Gruber, G. B. (1934). Beitrage zur Frage 'Gekoppelter', Missbildungen (Akrocephalosyndactylie und Dysencephalia splanchnocystica). Beitrage zur pathologischen Anatomie, 93,459-476."},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"237","DOI":"10.1542\/peds.48.2.237","article-title":"Genetics of the Meckel syndrome (dysencephalia splanchno-cystica)","volume":"48","author":"Hsia, Y.E.; Bratu, M.; Herbordt, A.","year":"1971","unstructured":"Hsia, Y. E., Bratu, M., and Herbordt, A. (1971). Genetics of the Meckel syndrome (dysencephalia splanchno-cystica). Pediatrics, 48, 237-247.","journal-title":"Pediatrics"},{"key":"ref_6","first-page":"182","article-title":"Kanzow (1859). Monatsschrift fUr Geburtskunde","volume":"13","author":"9,","year":"1899","unstructured":"Kanzow (1859). Monatsschrift fUr Geburtskunde Frauenkrankheiten, 13, 182. (Cited by Theilhaber. A. (1899). Ein Fall von Cystenniere. Monatsschrift fur Geburtshilfe und Gynakologie, 9, 496-504.)","journal-title":"Frauenkrankheiten; Ein Fall von"},{"key":"ref_7","first-page":"7","article-title":"Beschreibung zweier durch sehr aehnliche Bildungsabweichungen entstellter Geschwister","author":"Meckel, J.F.","year":"1822","unstructured":"Meckel, J. F. (1822). Beschreibung zweier durch sehr aehnliche Bildungsabweichungen entstellter Geschwister. Deutsches Archiv fur die Physiologie, 7,99-172.","journal-title":"Deutsches Archiv fur die Physiologie"},{"issue":"2","key":"ref_8","first-page":"167","article-title":"The Meckel syndrome (dysencephalia splanchno-cystica, the Gruber syndrome). In Congenital Malformation Syndromes. Birth Defects: Original Article","volume":"5","author":"Opitz, J.M.; Howe, J.J.","year":"1969","unstructured":"Opitz, J. M., and Howe, J. J. (1969). The Meckel syndrome (dysencephalia splanchno-cystica, the Gruber syndrome). In Congenital Malformation Syndromes. 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Pathological and cytogenetic studies","volume":"3","author":"Tucker, C.C.; Finley, S.C.; Tucker, E.S.; Finley, W.H.","year":"1966","unstructured":"Tucker, C. C., Finley, S. C., Tucker, E. S., and Finley, W. H. (1966). Oral-facial-digital syndrome with polycystic kidneys and liver. Pathological and cytogenetic studies. Journal of Medical Genetics, 3, 145-147.","journal-title":"Journal of Medical Genetics"},{"key":"ref_11","first-page":"10","article-title":"Polydactylie familiale avec dysplasia neuro-cranienne","author":"Walbaum, R.; Dehaene, P.; Duthoit, F.","year":"1967","unstructured":"Walbaum, R., Dehaene, P., and Duthoit, F. (1967). Polydactylie familiale avec dysplasia neuro-cranienne. Annales de Genetique, 10,39-41.","journal-title":"Annales de Genetique"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.15.3.242","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T04:22:30Z","timestamp":1760761350000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.15.3.242"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1978,6]]},"references-count":11,"journal-issue":{"issue":"3","published-online":{"date-parts":[[1978,6,1]]},"published-print":{"date-parts":[[1978,6]]}},"alternative-id":["10.1136\/jmg.15.3.242"],"URL":"https:\/\/doi.org\/10.1136\/jmg.15.3.242","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"type":"print","value":"0022-2593"},{"type":"electronic","value":"1468-6244"}],"subject":[],"published":{"date-parts":[[1978,6]]}}}