{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,9]],"date-time":"2026-03-09T16:23:53Z","timestamp":1773073433567,"version":"3.50.1"},"reference-count":33,"publisher":"Elsevier BV","issue":"6","license":[{"start":{"date-parts":[[2011,11,1]],"date-time":"2011-11-01T00:00:00Z","timestamp":1320105600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2011,11,1]],"date-time":"2011-11-01T00:00:00Z","timestamp":1320105600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["European Journal of Medical Genetics"],"published-print":{"date-parts":[[2011,11]]},"DOI":"10.1016\/j.ejmg.2011.06.005","type":"journal-article","created":{"date-parts":[[2011,8,3]],"date-time":"2011-08-03T05:32:25Z","timestamp":1312349545000},"page":"e542-e547","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":38,"title":["Congenital hydrocephalus in clinical practice: A genetic diagnostic approach"],"prefix":"10.1016","volume":"54","author":[{"given":"J.M.A.","family":"Verhagen","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C.T.R.M.","family":"Schrander-Stumpel","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"I.P.C.","family":"Krapels","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C.E.M.","family":"de Die-Smulders","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"F.H.M.","family":"van Lint","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C.","family":"Willekes","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J.W.","family":"Weber","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A.W.D.","family":"Gavilanes","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.V.E.","family":"Macville","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A.P.A.","family":"Stegmann","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J.J.M.","family":"Engelen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J.","family":"Bakker","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Y.J.","family":"Vos","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S.G.M.","family":"Frints","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.ejmg.2011.06.005_bib1","series-title":"Emery and Rimoin\u2019s Principles and Practice of Medical Genetics","first-page":"2975","article-title":"Clinical genetics of neural tube defects and other congenital central nervous system malformations","author":"Tolmie","year":"2002"},{"issue":"5","key":"10.1016\/j.ejmg.2011.06.005_bib2","doi-asserted-by":"crossref","first-page":"338","DOI":"10.1016\/0387-7604(95)00070-R","article-title":"Classification of hydrocephalus and outcome of treatment","volume":"17","author":"Mori","year":"1995","journal-title":"Brain Dev."},{"issue":"3","key":"10.1016\/j.ejmg.2011.06.005_bib3","doi-asserted-by":"crossref","first-page":"531","DOI":"10.1016\/S0095-5108(03)00053-8","article-title":"Fetal hydrocephalus","volume":"30","author":"Davis","year":"2003","journal-title":"Clin. Perinatol."},{"issue":"5","key":"10.1016\/j.ejmg.2011.06.005_bib4","doi-asserted-by":"crossref","first-page":"355","DOI":"10.1007\/s004310050830","article-title":"Congenital hydrocephalus: nosology and guidelines for clinical approach and genetic counselling","volume":"157","author":"Schrander Stumpel","year":"1998","journal-title":"Eur. J. Pediatr."},{"issue":"Suppl. 2","key":"10.1016\/j.ejmg.2011.06.005_bib5","first-page":"113","article-title":"Time trends and demographics of deaths from congenital hydrocephalus in children in the United States: National Center for Health Statistics data, 1979\u20131998","volume":"103","author":"Chi","year":"2005","journal-title":"J.\u00a0Neurosurg."},{"issue":"3","key":"10.1016\/j.ejmg.2011.06.005_bib6","doi-asserted-by":"crossref","first-page":"211","DOI":"10.1002\/ajmg.a.20249","article-title":"Phenotypic abnormalities: terminology and classification","volume":"123","author":"Merks","year":"2003","journal-title":"Am. J. Med. Genet. A"},{"key":"10.1016\/j.ejmg.2011.06.005_bib7","doi-asserted-by":"crossref","first-page":"2","DOI":"10.1186\/1743-8454-5-2","article-title":"The definition and classification of hydrocephalus: a personal recommendation to stimulate debate","volume":"5","author":"Rekate","year":"2008","journal-title":"Cerebrospinal Fluid Res."},{"key":"10.1016\/j.ejmg.2011.06.005_bib8","series-title":"GeneReviews at GeneTests: Medical Genetics Information Resource (Database Online)","article-title":"L1 syndrome","author":"Schrander Stumpel","year":"2006"},{"key":"10.1016\/j.ejmg.2011.06.005_bib9","series-title":"Syndromes of the Head and Neck","author":"Gorlin","year":"2001"},{"issue":"2","key":"10.1016\/j.ejmg.2011.06.005_bib10","doi-asserted-by":"crossref","first-page":"162","DOI":"10.1002\/ajmg.a.30784","article-title":"Terminal deletion of 6p results in\u00a0a\u00a0recognizable phenotype","volume":"136","author":"Lin","year":"2005","journal-title":"Am. J. Med. Genet. A"},{"issue":"4","key":"10.1016\/j.ejmg.2011.06.005_bib11","doi-asserted-by":"crossref","first-page":"381","DOI":"10.1002\/ajmg.a.30274","article-title":"Axenfeld-Rieger malformation and distinctive facial features: clues to a recognizable 6p25 microdeletion syndrome","volume":"132","author":"Maclean","year":"2005","journal-title":"Am. J. Med. Genet. A"},{"issue":"6","key":"10.1016\/j.ejmg.2011.06.005_bib12","doi-asserted-by":"crossref","first-page":"985","DOI":"10.1016\/S0092-8674(00)81204-0","article-title":"The forkhead\/winged helix gene Mf1 is disrupted in the pleiotropic mouse mutation congenital hydrocephalus","volume":"93","author":"Kume","year":"1998","journal-title":"Cell"},{"issue":"9","key":"10.1016\/j.ejmg.2011.06.005_bib13","doi-asserted-by":"crossref","first-page":"1037","DOI":"10.1038\/ng.422","article-title":"FOXC1 is required for normal cerebellar development and is a major contributor to chromosome 6p25.3 Dandy\u2013Walker malformation","volume":"41","author":"Aldinger","year":"2009","journal-title":"Nat. Genet."},{"issue":"3","key":"10.1016\/j.ejmg.2011.06.005_bib14","doi-asserted-by":"crossref","first-page":"569","DOI":"10.1086\/318802","article-title":"Identification of the gene for oral\u2013facial\u2013digital type I syndrome","volume":"68","author":"Ferrante","year":"2001","journal-title":"Am. J. Hum. Genet."},{"issue":"11","key":"10.1016\/j.ejmg.2011.06.005_bib15","doi-asserted-by":"crossref","first-page":"739","DOI":"10.1136\/jmg.2007.051334","article-title":"Mutations in the AP1S2 gene encoding the sigma 2 subunit of the adaptor protein 1 complex are associated with syndromic X-linked mental retardation with hydrocephalus and calcifications in basal ganglia","volume":"44","author":"Saillour","year":"2007","journal-title":"J.\u00a0Med. Genet."},{"issue":"10","key":"10.1016\/j.ejmg.2011.06.005_bib16","doi-asserted-by":"crossref","first-page":"2015","DOI":"10.1093\/hmg\/ddq083","article-title":"A\u00a0mutation in the 3\u2032-UTR of the HDAC6 gene abolishing the post-transcriptional regulation mediated by hsa-miR-433 is linked to a new form of dominant X-linked chondrodysplasia","volume":"19","author":"Simon","year":"2010","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.ejmg.2011.06.005_bib17","series-title":"Taybi and Lachman\u2019s Radiology of Syndromes, Metabolic Disorders and Skeletal Dysplasias","author":"Lachman","year":"2007"},{"issue":"2","key":"10.1016\/j.ejmg.2011.06.005_bib18","doi-asserted-by":"crossref","first-page":"177","DOI":"10.1002\/ajmg.1320340209","article-title":"VACTERL with hydrocephalus: further delineation of the syndrome(s)","volume":"34","author":"Evans","year":"1989","journal-title":"Am. J. Med. Genet."},{"issue":"1","key":"10.1016\/j.ejmg.2011.06.005_bib19","doi-asserted-by":"crossref","first-page":"75","DOI":"10.1002\/ajmg.1320470116","article-title":"Interrelationships of the hemifacial microsomia-VATER, VATER, and sirenomelia phenotypes","volume":"47","author":"Duncan","year":"1993","journal-title":"Am. J. Med. Genet."},{"issue":"9","key":"10.1016\/j.ejmg.2011.06.005_bib20","doi-asserted-by":"crossref","first-page":"750","DOI":"10.1136\/jmg.2006.041673","article-title":"Fanconi anaemia complementation group B presenting as X linked VACTERL with hydrocephalus syndrome","volume":"43","author":"Holden","year":"2006","journal-title":"J.\u00a0Med. Genet."},{"issue":"2","key":"10.1016\/j.ejmg.2011.06.005_bib21","doi-asserted-by":"crossref","first-page":"176","DOI":"10.1542\/peds.67.2.176","article-title":"The axial mesodermal dysplasia spectrum","volume":"67","author":"Russell","year":"1981","journal-title":"Pediatrics"},{"issue":"1","key":"10.1016\/j.ejmg.2011.06.005_bib22","doi-asserted-by":"crossref","first-page":"55","DOI":"10.1002\/ajmg.a.30853","article-title":"Should chromosome breakage studies be performed in patients with VACTERL association?","volume":"137","author":"Faivre","year":"2005","journal-title":"Am. J. Med. Genet. A"},{"issue":"4","key":"10.1016\/j.ejmg.2011.06.005_bib23","doi-asserted-by":"crossref","first-page":"452","DOI":"10.1038\/labinvest.3700253","article-title":"Cilium-generated signaling and cilia-related disorders","volume":"85","author":"Pan","year":"2005","journal-title":"Lab. Invest."},{"issue":"11","key":"10.1016\/j.ejmg.2011.06.005_bib24","doi-asserted-by":"crossref","first-page":"880","DOI":"10.1038\/nrm2278","article-title":"When cilia go bad: cilia defects and ciliopathies","volume":"8","author":"Fliegauf","year":"2007","journal-title":"Nat. Rev. Mol. Cell Biol."},{"issue":"4","key":"10.1016\/j.ejmg.2011.06.005_bib25","doi-asserted-by":"crossref","first-page":"470","DOI":"10.1002\/path.1652","article-title":"Cilia-related diseases","volume":"204","author":"Afzelius","year":"2004","journal-title":"J.\u00a0Pathol."},{"issue":"9","key":"10.1016\/j.ejmg.2011.06.005_bib26","doi-asserted-by":"crossref","first-page":"961","DOI":"10.1038\/ng0906-961","article-title":"The ciliary proteome database: an integrated community resource for the genetic and functional dissection of cilia","volume":"38","author":"Gherman","year":"2006","journal-title":"Nat. Genet."},{"issue":"5","key":"10.1016\/j.ejmg.2011.06.005_bib27","first-page":"358","article-title":"Quality of life in children with hydrocephalus: results from the Hospital for Sick Children, Toronto","volume":"107","author":"Kulkarni","year":"2007","journal-title":"J.\u00a0Neurosurg."},{"issue":"Suppl. 1","key":"10.1016\/j.ejmg.2011.06.005_bib28","first-page":"26","article-title":"Outcome in pediatric hydrocephalus: a comparison between previously used outcome measures and the hydrocephalus outcome questionnaire","volume":"107","author":"Platenkamp","year":"2007","journal-title":"J.\u00a0Neurosurg."},{"issue":"5","key":"10.1016\/j.ejmg.2011.06.005_bib29","doi-asserted-by":"crossref","first-page":"263","DOI":"10.1007\/BF00271920","article-title":"Etiology and prognosis in hydrocephalus","volume":"4","author":"Jansen","year":"1988","journal-title":"Childs Nerv. Syst."},{"issue":"3","key":"10.1016\/j.ejmg.2011.06.005_bib30","doi-asserted-by":"crossref","first-page":"418","DOI":"10.1111\/j.1651-2227.1987.tb10492.x","article-title":"Epidemiology of infantile hydrocephalus in Sweden. III. Origin in preterm infants","volume":"76","author":"Fernell","year":"1987","journal-title":"Acta Paediatr. Scand."},{"issue":"3","key":"10.1016\/j.ejmg.2011.06.005_bib31","doi-asserted-by":"crossref","first-page":"411","DOI":"10.1111\/j.1651-2227.1987.tb10491.x","article-title":"Epidemiology of infantile hydrocephalus in Sweden. II. Origin in infants born at term","volume":"76","author":"Fernell","year":"1987","journal-title":"Acta Paediatr. Scand."},{"issue":"1","key":"10.1016\/j.ejmg.2011.06.005_bib32","doi-asserted-by":"crossref","first-page":"7","DOI":"10.1080\/14767050601036188","article-title":"Sonographic diagnosis of fetal cerebral ventriculomegaly: an update","volume":"20","author":"D\u2019Addario","year":"2007","journal-title":"J.\u00a0Matern. Fetal Neonatal. Med."},{"issue":"6","key":"10.1016\/j.ejmg.2011.06.005_bib33","doi-asserted-by":"crossref","first-page":"797","DOI":"10.1007\/BF00145322","article-title":"An epidemiologic survey of environmental and genetic factors in congenital hydrocephalus","volume":"8","author":"Stoll","year":"1992","journal-title":"Eur. J. Epidemiol."}],"container-title":["European Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S176972121100084X?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S176972121100084X?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T03:38:17Z","timestamp":1761709097000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S176972121100084X"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2011,11]]},"references-count":33,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2011,11]]}},"alternative-id":["S176972121100084X"],"URL":"https:\/\/doi.org\/10.1016\/j.ejmg.2011.06.005","relation":{},"ISSN":["1769-7212"],"issn-type":[{"value":"1769-7212","type":"print"}],"subject":[],"published":{"date-parts":[[2011,11]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Congenital hydrocephalus in clinical practice: A genetic diagnostic approach","name":"articletitle","label":"Article Title"},{"value":"European Journal of Medical Genetics","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ejmg.2011.06.005","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2011 Elsevier Masson SAS. All rights reserved.","name":"copyright","label":"Copyright"}]}}