{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,20]],"date-time":"2026-09-20T05:37:21Z","timestamp":1789882641882,"version":"4.0.1"},"reference-count":20,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2007,3,12]],"date-time":"2007-03-12T00:00:00Z","timestamp":1173657600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2007,4,15]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>The most frequent cause of ventriculomegaly is spina bifida when associated with Arnold\u2013Chiari type II malformation. We report on a prenatal diagnosis of severe ventriculomegaly in association with spinal dysraphism that was indicative of a Currarino syndrome (CS) due to a c.584delA, p.H195fsX28 truncated mutation within the <jats:italic>HLXB9<\/jats:italic> gene. Physiopathology of the ventriculomegaly is discussed in reference to the fetopathological examination and CS embryopathology. In the present case, prognosis was poor and pregnancy termination was authorized. However, such a decision may be controversial in fetuses with less severe malformations on sonographic examination, since mutations in the <jats:italic>HLXB9<\/jats:italic> gene can predict neither the severity nor the long\u2010term prognosis of the disease. Due to a lack of genotype\u2013phenotype correlation and the broad variability of phenotype in heterozygotes, clinical and genetic investigations among relatives are mandatory in all <jats:italic>HLXB9<\/jats:italic> gene mutation cases, to detect asymptomatic CS cases and to prevent the occurrence of severe complications. \u00a9 2007 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.31655","type":"journal-article","created":{"date-parts":[[2007,3,13]],"date-time":"2007-03-13T17:30:07Z","timestamp":1173807007000},"page":"871-874","source":"Crossref","is-referenced-by-count":12,"title":["Currarino syndrome shown by prenatal onset ventriculomegaly and spinal dysraphism"],"prefix":"10.1002","volume":"143A","author":[{"given":"C.","family":"Cr\u00e9tolle","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S.","family":"Sarnacki","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J.","family":"Amiel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D.","family":"Genevi\u00e8ve","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"F.","family":"Encha\u2010Razavi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S.","family":"Zrelli","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"Z\u00e9rah","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C.","family":"Nihoul F\u00e9k\u00e9t\u00e9","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S.","family":"Lyonnet","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2007,3,12]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1148\/radiology.193.2.7972753"},{"key":"e_1_2_5_3_1","first-page":"76","article-title":"Recommendations on the management of cerebral ventriculomegaly (January 2004)","volume":"33","author":"ANAES. 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