{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,8,30]],"date-time":"2025-08-30T16:48:09Z","timestamp":1756572489122,"version":"3.40.5"},"reference-count":43,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2024,1,21]],"date-time":"2024-01-21T00:00:00Z","timestamp":1705795200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Develop Med Child Neuro"],"published-print":{"date-parts":[[2024,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:label\/><jats:p>Hydrocephalus is rarely described in Joubert\u2010Boltshauser syndrome (JBTS). The aim of this study was to investigate whether this association is a chance occurrence or potentially signifies a new phenotypic subtype. The databases of Wolfson Medical Center, Sourasky Medical Center, and EB's personal collection were reviewed. Records from an additional family were obtained from RG. The patients' medical records, prenatal ultrasounds, and magnetic resonance imaging were assessed. In addition, we reviewed the medical literature for the association of ventriculomegaly\/hydrocephalus (VM\/HC) in JBTS. Only seven cases (from five families) were found with prenatal onset of VM\/HC, diagnosed during the second trimester; three pregnancies were terminated, one was stillborn and three were born, of which one died within a week, and another died at the age of 6\u2009years. Additional central nervous system findings included dysgenesis of the corpus callosum, delayed sulcation, polymicrogyria, and pachygyria. We found 16 publications describing 54 patients with JBTS and VM\/HC: only five were diagnosed at birth and three were diagnosed prenatally. Hydrocephalus is extremely rare in JBTS. The recurrence of this association, reported in several publications in multiple family members, suggests that it might represent a new phenotypic subtype of JBTS possibly associated with specific genes or variants. Further genetic studies are needed to confirm this hypothesis.<\/jats:p><\/jats:sec><jats:sec><jats:title>What this paper adds<\/jats:title><jats:p>\n<jats:list list-type=\"bullet\">\n<jats:list-item><jats:p>The association of fetal hydrocephalus with Joubert\u2010Boltshauser syndrome (JBTS) is very rare but not a chance association.<\/jats:p><\/jats:list-item>\n<jats:list-item><jats:p>This association represents a new phenotypic subtype of JBTS possibly linked to specific genes or variants.<\/jats:p><\/jats:list-item>\n<\/jats:list><\/jats:p><\/jats:sec>","DOI":"10.1111\/dmcn.15845","type":"journal-article","created":{"date-parts":[[2024,1,22]],"date-time":"2024-01-22T04:40:05Z","timestamp":1705898405000},"page":"948-957","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Hydrocephalus associated with a molar tooth sign: A distinct subtype of Joubert syndrome"],"prefix":"10.1111","volume":"66","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-3851-7334","authenticated-orcid":false,"given":"Michal","family":"Gafner","sequence":"first","affiliation":[{"name":"Department of Pediatrics B Schneider Children's Medical Center of Israel  Israel"},{"name":"Faculty of Medicine Tel Aviv University  Tel Aviv Israel"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Leila","family":"Haddad","sequence":"additional","affiliation":[{"name":"Foetal Neurology Clinic Wolfson Medical Center  Holon Israel"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rachna","family":"Gupta","sequence":"additional","affiliation":[{"name":"Sunehri Devi Hospital  Sonipat India"},{"name":"Indraprastha Apollo Hospital  New Delhi India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zvi","family":"Leibovitz","sequence":"additional","affiliation":[{"name":"Obstetrics &amp; Gynecology Ultrasound Unit Bnai Zion Medical Center  Haifa Israel"},{"name":"Rappaport Faculty of Medicine Technion\u2010 Israel Institute  Haifa Israel"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Itamar","family":"Zilberman\u00a0Ron","sequence":"additional","affiliation":[{"name":"Department of Obstetrics &amp; Gynecology Rabin Medical Center  Israel"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Liat","family":"Ben\u2010Sira","sequence":"additional","affiliation":[{"name":"Faculty of Medicine Tel Aviv University  Tel Aviv Israel"},{"name":"Pediatric Radiology Unit Sourasky Medical Center  Tel Aviv Israel"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4706-1949","authenticated-orcid":false,"given":"Stephanie","family":"Libzon","sequence":"additional","affiliation":[{"name":"Pediatric Radiology Unit Sourasky Medical Center  Tel Aviv Israel"},{"name":"Pediatric Neurology Unit Wolfson Medical Center  Holon Israel"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Liat","family":"Gindes","sequence":"additional","affiliation":[{"name":"Faculty of Medicine Tel Aviv University  Tel Aviv Israel"},{"name":"Foetal Neurology Clinic Wolfson Medical Center  Holon Israel"},{"name":"Obstetrics &amp; Gynecology Ultrasound Unit Wolfson Medical Center  Haifa Israel"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eugen","family":"Boltshauser","sequence":"additional","affiliation":[{"name":"Pediatric Neurology (Emeritus) Children's University  Z\u00fcrich Switzerland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6641-6875","authenticated-orcid":false,"given":"Tally","family":"Lerman\u2010Sagie","sequence":"additional","affiliation":[{"name":"Faculty of Medicine Tel Aviv University  Tel Aviv Israel"},{"name":"Foetal Neurology Clinic Wolfson Medical Center  Holon Israel"},{"name":"Pediatric Neurology Unit Wolfson Medical Center  Holon Israel"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2024,1,21]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.19.9.813"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1469-8749.1978.tb15307.x"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.spen.2009.06.002"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.radcr.2022.07.038"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1148\/radiology.193.3.7972820"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/uog.12567"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/uog.19034"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejpn.2018.06.011"},{"key":"e_1_2_8_10_1","first-page":"1993","volume-title":"Joubert Syndrome.. 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