{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,26]],"date-time":"2025-10-26T14:15:43Z","timestamp":1761488143232,"version":"build-2065373602"},"reference-count":8,"publisher":"BMJ","issue":"1","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1975,3]]},"abstract":"<jats:p>A severe neural tube defect diagnosed in a 191\/2-week-old \"at risk\" fetus on the evidence of a markedly elevated alpha-fetoprotein level in the amniotic fluid, turned out to be an occipital myelocoele. However, the fetus also had polycystic kidneys and postaxial hexadactyly on all extremities. The karyotype was normal. These are the features of the rare Meckel syndrome, caused by a pleiotropic, autosomal, recessive gene, and one and possibly two other sibs were also affected.<\/jats:p>","DOI":"10.1136\/jmg.12.1.109","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T14:50:51Z","timestamp":1226328651000},"page":"109-110","source":"Crossref","is-referenced-by-count":31,"title":["Prenatal diagnosis of a neural tube defect: Meckel syndrome."],"prefix":"10.1136","volume":"12","author":[{"given":"M J","family":"Seller","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1975,3,1]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"197","DOI":"10.1016\/S0140-6736(72)91634-0","article-title":"Alpha-fetoprotein in the antenatal diagnosis of anencephaly and spina bifida","volume":"2","author":"Brock, D.J.H.; Sutcliffe, R.G.","year":"1972","unstructured":"Brock, D. J. H. and Sutcliffe, R. G. (1972). Alpha-fetoprotein in the antenatal diagnosis of anencephaly and spina bifida. Lancet, 2, 197-199.","journal-title":"Lancet"},{"key":"ref_2","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","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. Journal of Medical Genetics, 8, 285-290.","journal-title":"Journal of Medical Genetics"},{"key":"ref_3","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, Y.E.; Bratu, M.; Herbordt, A.","year":"1971","unstructured":"Hsia, Y. E., Bratu, M., and Herbordt, A. (1971). Genetics of the Meckel syndrome (Dysencephalia splanchnocystica). Pediatrics, 48, 237-247.","journal-title":"Pediatrics"},{"key":"ref_4","first-page":"97","article-title":"Encephalocoele, polycystic kidneys, and polydactyly as an autosomal recessive trait simulating certain other disorders: the Meckel syndrome","volume":"14","author":"Mecke, S.; Passarge, E.","year":"1971","unstructured":"Mecke, S. and Passarge, E. (1971). Encephalocoele, polycystic kidneys, and polydactyly as an autosomal recessive trait simulating certain other disorders: the Meckel syndrome. Annales de Ginetique, 14, 97-103.","journal-title":"Annales de Ginetique"},{"key":"ref_5","first-page":"99","article-title":"Beschreibung Zweier, durch sehr lhnliche Bildungsabweichungen entstellter Geschwister","volume":"7","author":"Meckel, J.F.","year":"1822","unstructured":"Meckel, J. F. (1822). Beschreibung Zweier, durch sehr lhnliche Bildungsabweichungen entstellter Geschwister. Deutsches Archiv fiUr die Physiologie, 7, 99-172.","journal-title":"Deutsches Archiv fiUr die Physiologie"},{"key":"ref_6","first-page":"289","article-title":"An Introduction to Medical Genetics","author":"Roberts, J.A.","year":"1973","unstructured":"Roberts, J. A. Fraser (1973). An Introduction to Medical Genetics, 6th ed., p. 289. Oxford University Press, London.","edition":"6th ed","journal-title":"Fraser"},{"key":"ref_7","first-page":"428","article-title":"Maternal serum-alpha-fetoprotein levels and prenatal diagnosis of neural-tube defects","volume":"1","author":"Seller, M.J.; Singer, J.D.; Coltart, T.M.; Campbell, S.","year":"1974","unstructured":"Seller, M. J., Singer, J. D., Coltart, T. M., and Campbell, S. (1974). Maternal serum-alpha-fetoprotein levels and prenatal diagnosis of neural-tube defects. Lancet, 1, 428-429.","journal-title":"Lancet"},{"key":"ref_8","article-title":"0040-01-0571) was born when his mother was 42 and his father 48 years old, the result of their only pregnancy. During the gestation the mother required surgery at six months for a uterine Received","author":"propositus (B. D. C, The","year":"1974","unstructured":"The propositus (B.D.C. 0040-01-0571) was born when his mother was 42 and his father 48 years old, the result of their only pregnancy. During the gestation the mother required surgery at six months for a uterine Received 24 June 1974."}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.12.1.109","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,17]],"date-time":"2025-10-17T21:34:31Z","timestamp":1760736871000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.12.1.109"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1975,3]]},"references-count":8,"journal-issue":{"issue":"1","published-online":{"date-parts":[[1975,3,1]]},"published-print":{"date-parts":[[1975,3]]}},"alternative-id":["10.1136\/jmg.12.1.109"],"URL":"https:\/\/doi.org\/10.1136\/jmg.12.1.109","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"type":"print","value":"0022-2593"},{"type":"electronic","value":"1468-6244"}],"subject":[],"published":{"date-parts":[[1975,3]]}}}