{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,13]],"date-time":"2026-10-13T23:47:23Z","timestamp":1791935243771,"version":"4.3.4"},"reference-count":39,"publisher":"Springer Science and Business Media LLC","issue":"6","license":[{"start":{"date-parts":[[2014,9,3]],"date-time":"2014-09-03T00:00:00Z","timestamp":1409702400000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Eur J Hum Genet"],"published-print":{"date-parts":[[2015,6]]},"DOI":"10.1038\/ejhg.2014.174","type":"journal-article","created":{"date-parts":[[2014,9,3]],"date-time":"2014-09-03T11:22:26Z","timestamp":1409743346000},"page":"746-752","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":76,"title":["Meckel\u2013Gruber Syndrome: a population-based study on prevalence, prenatal diagnosis, clinical features, and survival in Europe"],"prefix":"10.1038","volume":"23","author":[{"given":"Ingeborg","family":"Barisic","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ljubica","family":"Boban","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria","family":"Loane","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ester","family":"Garne","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Diana","family":"Wellesley","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elisa","family":"Calzolari","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Helen","family":"Dolk","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marie-Claude","family":"Addor","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jorieke EH","family":"Bergman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paula","family":"Braz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elizabeth S","family":"Draper","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Martin","family":"Haeusler","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Babak","family":"Khoshnood","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kari","family":"Klungsoyr","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna","family":"Pierini","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Annette","family":"Queisser-Luft","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Judith","family":"Rankin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anke","family":"Rissmann","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christine","family":"Verellen-Dumoulin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2014,9,3]]},"reference":[{"key":"BFejhg2014174_CR1","first-page":"99","volume":"7","author":"JF Meckel","year":"1822","unstructured":"Meckel JF : Beschreibung zweier, durch sehr aehnliche Bildungsabweichungen entstellter Geschwister. Dtsch Arch Physiol 1822; 7: 99\u2013172.","journal-title":"Dtsch Arch Physiol"},{"key":"BFejhg2014174_CR2","first-page":"167","volume":"2","author":"JM Opitz","year":"1969","unstructured":"Opitz JM, Howe JJ : The Meckel syndrome (dysencephalia splanchnocystica, the Gruber Syndrome). Birth Defects 1969; 2: 167\u2013179.","journal-title":"Birth Defects"},{"key":"BFejhg2014174_CR3","first-page":"97","volume":"14","author":"S Mecke","year":"1971","unstructured":"Mecke S, Passarge E : Encephalocele, polycystic kidneys, and polydactyly as an autosomal recessive trait simulating certain other disorders: the Meckel syndrome. Ann Genet 1971; 14: 97\u2013103.","journal-title":"Ann Genet"},{"key":"BFejhg2014174_CR4","doi-asserted-by":"crossref","first-page":"237","DOI":"10.1542\/peds.48.2.237","volume":"48","author":"YE Hsia","year":"1971","unstructured":"Hsia YE, Bratu M, Herbordt A : Genetics of the Meckel syndrome (dysencephalia splanchnocystica). Pediatrics 1971; 48: 237\u2013247.","journal-title":"Pediatrics"},{"key":"BFejhg2014174_CR5","doi-asserted-by":"publisher","first-page":"67","DOI":"10.1002\/ajmg.1320090112","volume":"9","author":"FC Fraser","year":"1981","unstructured":"Fraser FC, Lytwyn A : Spectrum of anomalies in the Meckel syndrome, or: \"Maybe there is a malformation syndrome with at least one constant anomaly\". Am J Med Genet 1981; 9: 67\u201373.","journal-title":"Am J Med Genet"},{"key":"BFejhg2014174_CR6","doi-asserted-by":"publisher","first-page":"671","DOI":"10.1002\/ajmg.1320180414","volume":"18","author":"R Salonen","year":"1984","unstructured":"Salonen R : The Meckel syndrome: clinicopathological findings in 67 patients. Am J Med Genet 1984; 18: 671\u2013689.","journal-title":"Am J Med Genet"},{"key":"BFejhg2014174_CR7","doi-asserted-by":"crossref","first-page":"1236","DOI":"10.5858\/2006-130-1236-MS","volume":"130","author":"BA Alexiev","year":"2006","unstructured":"Alexiev BA, Lin X, Sun CC, Brenner DS : Meckel-Gruber Syndrome: pathologic manifestations, minimal diagnostic criteria, and differential diagnosis. Arch Pathol Lab Med 2006; 130: 1236\u20131238.","journal-title":"Arch Pathol Lab Med"},{"key":"BFejhg2014174_CR8","doi-asserted-by":"publisher","first-page":"301","DOI":"10.1136\/jmg.22.4.301","volume":"22","author":"ID Young","year":"1985","unstructured":"Young ID, Rickett AB, Clerke M : High incidence of Meckel's syndrome in Gujarati Indians. J Med Genet 1985; 22: 301\u2013304.","journal-title":"J Med Genet"},{"key":"BFejhg2014174_CR9","doi-asserted-by":"publisher","first-page":"462","DOI":"10.1136\/jmg.15.6.462","volume":"15","author":"MJ Seller","year":"1978","unstructured":"Seller MJ : Meckel syndrome and the prenatal diagnosis of neural tube defects. J Med Genet 1978; 15: 462\u2013465.","journal-title":"J Med Genet"},{"key":"BFejhg2014174_CR10","doi-asserted-by":"publisher","first-page":"56","DOI":"10.4103\/0976-3147.91943","volume":"3","author":"C Panduranga","year":"2012","unstructured":"Panduranga C, Kangle R, Badami R, Patil PV : Meckel-Gruber Syndrome: report of two cases. J Neurosci Rural Pract 2012; 3: 56\u201359.","journal-title":"J Neurosci Rural Pract"},{"key":"BFejhg2014174_CR11","doi-asserted-by":"publisher","first-page":"242","DOI":"10.1136\/jmg.15.3.242","volume":"15","author":"Md'A Crawfurd","year":"1978","unstructured":"Crawfurd Md'A, Jackson P, Kohler HG : Meckel's syndrome (dysencephalia splanchno-cystica) in two Pakistani sibs. J Med Genet 1978; 15: 242\u2013245.","journal-title":"J Med Genet"},{"key":"BFejhg2014174_CR12","doi-asserted-by":"publisher","first-page":"176","DOI":"10.1111\/j.1399-0004.1990.tb03568.x","volume":"38","author":"TI Farag","year":"1990","unstructured":"Farag TI, Usha R, Uma R, Mady SA, al-Nagdy K, el-Badramany MH : Phenotypic variability in Meckel-Gruber Syndrome. Clin Genet 1990; 38: 176\u2013179.","journal-title":"Clin Genet"},{"key":"BFejhg2014174_CR13","doi-asserted-by":"publisher","first-page":"140","DOI":"10.1136\/jmg.29.2.140-a","volume":"29","author":"AS Teebi","year":"1992","unstructured":"Teebi AS, Al Saleh QA, Odeh H : Meckel syndrome and neural tube defects in Kuwait. J Med Genet 1992; 29: 140.","journal-title":"J Med Genet"},{"key":"BFejhg2014174_CR14","doi-asserted-by":"publisher","first-page":"240","DOI":"10.1007\/BF00333528","volume":"62","author":"P Moerman","year":"1982","unstructured":"Moerman P, Verbeken E, Fryns JP, Goddeeris P, Lauwcryns JM : The Meckel syndrome. Pathological and cytogenetic observations in eight cases. Hum Genet 1982; 62: 240\u2013245.","journal-title":"Hum Genet"},{"key":"BFejhg2014174_CR15","doi-asserted-by":"publisher","first-page":"691","DOI":"10.1002\/ajmg.1320180415","volume":"18","author":"R Salonen","year":"1984","unstructured":"Salonen R, Norio R : The Meckel syndrome in Finland: epidemiologic and genetic aspects. Am J Med Genet 1984; 18: 691\u2013698.","journal-title":"Am J Med Genet"},{"key":"BFejhg2014174_CR16","doi-asserted-by":"publisher","first-page":"73","DOI":"10.1016\/j.ajhg.2013.11.010","volume":"94","author":"R Shaheen","year":"2014","unstructured":"Shaheen R, Shamseldin HE, Loucks CM et al: Mutations in CSPP1, encoding a core centrosomal protein, cause a change of ciliopathy phenotypes in humans. Am J Hum Genet 2014; 94: 73\u201379.","journal-title":"Am J Hum Genet"},{"key":"BFejhg2014174_CR17","doi-asserted-by":"publisher","first-page":"16951","DOI":"10.1073\/pnas.1201408109","volume":"109","author":"A Aguilar","year":"2012","unstructured":"Aguilar A, Meunier A, Strehl L et al: Analysis of human samples reveals impaired SHH-dependent cerebellar development in Joubert syndrome\/Meckel syndrome. Proc Natl Acad Sci USA 2012; 109: 16951\u201316956.","journal-title":"Proc Natl Acad Sci USA"},{"key":"BFejhg2014174_CR18","doi-asserted-by":"publisher","first-page":"160","DOI":"10.1136\/jmedgenet-2012-101431","volume":"50","author":"R Shaheen","year":"2013","unstructured":"Shaheen R, Ansari S, Mardawi EA, Alshammari MJ, Alkuraya FS : Mutations in TMEM231 cause Meckel-Gruber Syndrome. J Med Genet 2013; 50: 160\u2013162.","journal-title":"J Med Genet"},{"key":"BFejhg2014174_CR19","doi-asserted-by":"publisher","first-page":"1358","DOI":"10.1093\/hmg\/dds546","volume":"22","author":"ZA Abdelhamed","year":"2013","unstructured":"Abdelhamed ZA, Wheway G, Szymanska K et al: Variable expressivity of ciliopathy neurological phenotypes that encompass Meckel-Gruber Syndrome and Joubert syndrome is caused by complex de-regulated ciliogenesis, Shh and Wnt signalling defects. Hum Mol Genet 2013; 22: 1358\u20131372.","journal-title":"Hum Mol Genet"},{"key":"BFejhg2014174_CR20","doi-asserted-by":"publisher","first-page":"96","DOI":"10.4161\/org.27375","volume":"10","author":"AR Barker","year":"2013","unstructured":"Barker AR, Thomas R, Dawe HR : Meckel-Gruber Syndrome and the role of primary cilia in kidney, skeleton and central nervous system development. Organogenesis 2013; 10: 96\u2013107.","journal-title":"Organogenesis"},{"key":"BFejhg2014174_CR21","doi-asserted-by":"publisher","first-page":"417","DOI":"10.1002\/ajmg.1320140303","volume":"14","author":"RB Lowry","year":"1983","unstructured":"Lowry RB, Hill RH, Tischler B : Survival and spectrum of anomalies in the Meckel syndrome. Am J Med Genet 1983; 14: 417\u2013421.","journal-title":"Am J Med Genet"},{"key":"BFejhg2014174_CR22","doi-asserted-by":"publisher","first-page":"482","DOI":"10.1136\/jmg.31.6.482","volume":"31","author":"C Wright","year":"1994","unstructured":"Wright C, Healicon R, English C, Burn J : Meckel syndrome: what are the minimum diagnostic criteria? J Med Genet 1994; 31: 482\u2013485.","journal-title":"J Med Genet"},{"key":"BFejhg2014174_CR23","doi-asserted-by":"publisher","first-page":"296","DOI":"10.1002\/uog.2708","volume":"27","author":"V Ickowicz","year":"2006","unstructured":"Ickowicz V, Eurin D, Maugey-Laulom B et al: Meckel-Gruber Syndrome: sonography and pathology. Ultrasound Obstet Gynecol 2006; 27: 296\u2013300.","journal-title":"Ultrasound Obstet Gynecol"},{"key":"BFejhg2014174_CR24","doi-asserted-by":"publisher","first-page":"917","DOI":"10.1007\/s00404-012-2411-6","volume":"286","author":"C Eckmann-Scholz","year":"2012","unstructured":"Eckmann-Scholz C, Jonat W, Zerres K, Ortiz-Br\u00fcchle N : Earliest ultrasound findings and description of splicing mutations in Meckel-Gruber Syndrome. Arch Gynecol Obstet 2012; 286: 917\u2013921.","journal-title":"Arch Gynecol Obstet"},{"key":"BFejhg2014174_CR25","unstructured":"EUROCAT website. Available at http:\/\/www.eurocat-network.eu\/ ."},{"key":"BFejhg2014174_CR26","unstructured":"EUROCAT \u2018Guide 1.3\u2019. Available at http:\/\/www.eurocat-network.eu\/ABOUTES\/DataCollection\/GuidelinesforRegistration\/Guide1_3InstructionManual ."},{"key":"BFejhg2014174_CR27","unstructured":"EUROCAT 'Members & Registry Descriptions'. Available at http:\/\/www.eurocat-network.eu\/ABOUTES\/MemberRegistries\/MembersAndRegistryDescriptions\/AllMembers ."},{"key":"BFejhg2014174_CR28","doi-asserted-by":"publisher","first-page":"51","DOI":"10.1002\/ajmg.a.32016","volume":"146","author":"I Barisic","year":"2008","unstructured":"Barisic I, Tokic V, Loane M et al: Descriptive epidemiology of Cornelia de Lange syndrome in Europe. Am J Med Genet 2008; 146: 51\u201359.","journal-title":"Am J Med Genet"},{"key":"BFejhg2014174_CR29","doi-asserted-by":"publisher","first-page":"707","DOI":"10.1111\/1471-0528.12146","volume":"120","author":"B Boyle","year":"2013","unstructured":"Boyle B, McConkey R, Garne E et al: Trends in the prevalence, risk and pregnancy outcome of multiple births with congenital anomaly: a registry-based study in 14 European countries 1984-2007. BJOG 2013; 120: 707\u2013716.","journal-title":"BJOG"},{"key":"BFejhg2014174_CR30","doi-asserted-by":"publisher","first-page":"142","DOI":"10.1159\/000291841","volume":"43","author":"M Shozu","year":"1997","unstructured":"Shozu M, Akimoto K, Tanaka J, Sonoda Y, Inoue M, Michikura Y : Antenatal detection of Meckel-Gruber Syndrome in only one dizygotic twin following in vitro fertilization and embryo transfer. Gynecol Obstet Invest 1997; 43: 142\u2013144.","journal-title":"Gynecol Obstet Invest"},{"key":"BFejhg2014174_CR31","doi-asserted-by":"publisher","first-page":"281","DOI":"10.1007\/s10815-006-9040-6","volume":"23","author":"C Celentano","year":"2006","unstructured":"Celentano C, Prefumo F, Liberati M, Gallo G, Di Nisio Q, Rotmensch S : Prenatal diagnosis of Meckel-Gruber Syndrome in a pregnancy obtained with ICSI. JAssist Reprod Genet 2006; 23: 281\u2013283.","journal-title":"JAssist Reprod Genet"},{"key":"BFejhg2014174_CR32","doi-asserted-by":"publisher","first-page":"954","DOI":"10.1093\/humrep\/des023","volume":"27","author":"J de Mouzon","year":"2012","unstructured":"de Mouzon J, Goossens V, Bhattacharya S et al: Assisted reproductive technology in Europe, 2007: results generated from European registers by ESHRE. Hum Reprod 2012; 27: 954\u2013966.","journal-title":"Hum Reprod"},{"key":"BFejhg2014174_CR33","doi-asserted-by":"publisher","first-page":"327","DOI":"10.1016\/0020-7292(92)90265-K","volume":"39","author":"HM Ramadani","year":"1992","unstructured":"Ramadani HM, Nasrat HA : Prenatal diagnosis of recurrent Meckel syndrome. Int J Gynaecol Obstet 1992; 39: 327\u2013332.","journal-title":"Int J Gynaecol Obstet"},{"key":"BFejhg2014174_CR34","doi-asserted-by":"publisher","first-page":"154","DOI":"10.4103\/1817-1745.117855","volume":"8","author":"SV Parelkar","year":"2013","unstructured":"Parelkar SV, Kapadnis SP, Sanghvi BV, Joshi PB, Mundada D, Oak SN : Meckel-Gruber Syndrome: a are and lethal anomaly with review of literature. J Pediatr Neurosci 2013; 8: 154\u2013157.","journal-title":"J Pediatr Neurosci"},{"key":"BFejhg2014174_CR35","doi-asserted-by":"publisher","first-page":"88","DOI":"10.1007\/s004390050592","volume":"101","author":"P Paavola","year":"1997","unstructured":"Paavola P, Salonen R, Baumer A et al: Clinical and genetic heterogeneity in Meckel syndrome. Hum Genet 1997; 101: 88\u201392.","journal-title":"Hum Genet"},{"key":"BFejhg2014174_CR36","doi-asserted-by":"publisher","first-page":"18","DOI":"10.1186\/2046-2530-1-18","volume":"1","author":"K Szymanska","year":"2012","unstructured":"Szymanska K, Berry I, Logan CV et al: Founder mutations and genotype-phenotype correlations in Meckel-Gruber Syndrome and associated ciliopathies. Cilia 2012; 1: 18.","journal-title":"Cilia"},{"key":"BFejhg2014174_CR37","doi-asserted-by":"publisher","first-page":"523","DOI":"10.1002\/humu.9489","volume":"28","author":"R Khaddour","year":"2007","unstructured":"Khaddour R, Smith U, Baala L et al: Spectrum of MKS1 and MKS3 mutations in Meckel syndrome: a genotype-phenotype correlation. Mutation in brief #960. Online. Hum Mutat 2007; 28: 523\u2013524.","journal-title":"Hum Mutat"},{"key":"BFejhg2014174_CR38","doi-asserted-by":"publisher","first-page":"316","DOI":"10.1016\/S0002-9378(97)70491-5","volume":"176","author":"W Sepulveda","year":"1997","unstructured":"Sepulveda W, Sebire NJ, Souka A, Snijders RJ, Nicolaides KH : Diagnosis of the Meckel-Gruber Syndrome at eleven to fourteen weeks\u2019 gestation. Am J Obstet Gynecol 1997; 176: 316\u2013319.","journal-title":"Am J Obstet Gynecol"},{"key":"BFejhg2014174_CR39","doi-asserted-by":"publisher","first-page":"250","DOI":"10.1016\/j.ejrad.2009.01.041","volume":"74","author":"NH Behairy","year":"2010","unstructured":"Behairy NH, Talaat S, Saleem SN, El-Raouf MA : Magnetic resonance imaging in fetal anomalies: what does it add to 3D and 4D US? Eur J Radio 2010; 74: 250\u2013255.","journal-title":"Eur J Radio"}],"container-title":["European Journal of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.nature.com\/articles\/ejhg2014174.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/ejhg2014174","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/ejhg2014174.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,5,18]],"date-time":"2023-05-18T17:11:51Z","timestamp":1684429911000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.nature.com\/articles\/ejhg2014174"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,9,3]]},"references-count":39,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2015,6]]}},"alternative-id":["BFejhg2014174"],"URL":"https:\/\/doi.org\/10.1038\/ejhg.2014.174","relation":{},"ISSN":["1018-4813","1476-5438"],"issn-type":[{"value":"1018-4813","type":"print"},{"value":"1476-5438","type":"electronic"}],"subject":[],"published":{"date-parts":[[2014,9,3]]},"assertion":[{"value":"13 February 2014","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"5 July 2014","order":2,"name":"revised","label":"Revised","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"1 August 2014","order":3,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"3 September 2014","order":4,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"The authors declare no conflict of interest.","order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}]}}