{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,5]],"date-time":"2026-05-05T14:30:00Z","timestamp":1777991400991,"version":"3.51.4"},"reference-count":14,"publisher":"MDPI AG","issue":"4","license":[{"start":{"date-parts":[[2023,3,26]],"date-time":"2023-03-26T00:00:00Z","timestamp":1679788800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Children"],"abstract":"<jats:p>Gabriele-de Vries syndrome is a rare autosomal dominant genetic disease caused by de novo pathogenic variants in the Yin Yang 1 (YY1) gene. Individuals with this syndrome present with multiple congenital anomalies, as well as a delay in development and intellectual disability. Herein, we report the case of a newborn male patient with a novel de novo pathogenic variant in the Guanine Nucleotide-Binding Protein, Alpha Stimulating (GNAS) gene, which was identified by whole-exome sequencing. Our patient suffered from a large open spinal dysraphism which was treated surgically immediately after birth. During the follow-up, facial dysmorphism, bladder and bowel incontinence, and mildly delayed motor and speech development were observed. Congenital central nervous system disorders were also confirmed radiologically. In this case report, we present our diagnostic and treatment approaches to this patient. To our knowledge, this is the first reported case of Gabriele-de Vries syndrome presenting with spinal dysraphism. Extensive genetic evaluation is the cornerstone in treatment of patients with suspected Gabriele-de Vries syndrome. However, in cases with potentially life-threatening conditions, surgery should be strongly considered.<\/jats:p>","DOI":"10.3390\/children10040623","type":"journal-article","created":{"date-parts":[[2023,3,27]],"date-time":"2023-03-27T04:05:40Z","timestamp":1679889940000},"page":"623","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["First Reported Case of Gabriele-de Vries Syndrome with Spinal Dysraphism"],"prefix":"10.3390","volume":"10","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-7555-1155","authenticated-orcid":false,"given":"Nenad","family":"Koruga","sequence":"first","affiliation":[{"name":"Department of Neurosurgery, University Hospital Center Osijek, 31000 Osijek, Croatia"},{"name":"Faculty of Medicine, Josip Juraj Strossmayer University of Osijek, 31000 Osijek, Croatia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Silvija","family":"Pu\u0161elji\u0107","sequence":"additional","affiliation":[{"name":"Faculty of Medicine, Josip Juraj Strossmayer University of Osijek, 31000 Osijek, Croatia"},{"name":"Department of Pediatrics, University Hospital Center Osijek, 31000 Osijek, Croatia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marko","family":"Babi\u0107","sequence":"additional","affiliation":[{"name":"Faculty of Medicine, Josip Juraj Strossmayer University of Osijek, 31000 Osijek, Croatia"},{"name":"Department of Surgery, University Hospital Center Osijek, 31000 Osijek, Croatia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mario","family":"\u0106uk","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, University Hospital Center Zagreb, 10000 Zagreb, Croatia"},{"name":"School of Medicine, University of Zagreb, 10000 Zagreb, Croatia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2003-0656","authenticated-orcid":false,"given":"Andrea","family":"Cvitkovi\u0107 Roi\u0107","sequence":"additional","affiliation":[{"name":"Faculty of Medicine, Josip Juraj Strossmayer University of Osijek, 31000 Osijek, Croatia"},{"name":"Helena Clinic for Pediatric Medicine, 10000 Zagreb, Croatia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Vjenceslav","family":"Vrtari\u0107","sequence":"additional","affiliation":[{"name":"Department of Neurosurgery, University Hospital Center Osijek, 31000 Osijek, Croatia"},{"name":"Faculty of Medicine, Josip Juraj Strossmayer University of Osijek, 31000 Osijek, Croatia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anamarija","family":"Soldo Koruga","sequence":"additional","affiliation":[{"name":"Faculty of Medicine, Josip Juraj Strossmayer University of Osijek, 31000 Osijek, Croatia"},{"name":"Department of Neurology, University Hospital Center Osijek, 31000 Osijek, Croatia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4120-5737","authenticated-orcid":false,"given":"Alen","family":"Ron\u010devi\u0107","sequence":"additional","affiliation":[{"name":"Department of Neurosurgery, University Hospital Center Osijek, 31000 Osijek, Croatia"},{"name":"Faculty of Medicine, Josip Juraj Strossmayer University of Osijek, 31000 Osijek, Croatia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3715-8413","authenticated-orcid":false,"given":"Vi\u0161nja","family":"Tomac","sequence":"additional","affiliation":[{"name":"Faculty of Medicine, Josip Juraj Strossmayer University of Osijek, 31000 Osijek, Croatia"},{"name":"Department of Pediatrics, University Hospital Center Osijek, 31000 Osijek, Croatia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tatjana","family":"Rotim","sequence":"additional","affiliation":[{"name":"Faculty of Medicine, Josip Juraj Strossmayer University of Osijek, 31000 Osijek, Croatia"},{"name":"Department of Diagnostic and Interventional Radiology, University Hospital Center Osijek, 31000 Osijek, Croatia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tajana","family":"Turk","sequence":"additional","affiliation":[{"name":"Faculty of Medicine, Josip Juraj Strossmayer University of Osijek, 31000 Osijek, Croatia"},{"name":"Department of Diagnostic and Interventional Radiology, University Hospital Center Osijek, 31000 Osijek, Croatia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Domagoj","family":"Kreti\u0107","sequence":"additional","affiliation":[{"name":"Faculty of Medicine, Josip Juraj Strossmayer University of Osijek, 31000 Osijek, Croatia"},{"name":"Department of Diagnostic and Interventional Radiology, University Hospital Center Osijek, 31000 Osijek, Croatia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nora","family":"Pu\u0161elji\u0107","sequence":"additional","affiliation":[{"name":"Faculty of Medicine, Josip Juraj Strossmayer University of Osijek, 31000 Osijek, Croatia"},{"name":"Department of Pediatrics, University Hospital Center Osijek, 31000 Osijek, Croatia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rebeka","family":"Na\u0111","sequence":"additional","affiliation":[{"name":"Faculty of Medicine, Josip Juraj Strossmayer University of Osijek, 31000 Osijek, Croatia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8870-136X","authenticated-orcid":false,"given":"Ivana","family":"Serdaru\u0161i\u0107","sequence":"additional","affiliation":[{"name":"Faculty of Medicine, Josip Juraj Strossmayer University of Osijek, 31000 Osijek, Croatia"},{"name":"Department of Pediatrics, University Hospital Center Osijek, 31000 Osijek, Croatia"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2023,3,26]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"907","DOI":"10.1016\/j.ajhg.2017.05.006","article-title":"YY1 Haploinsufficiency Causes an Intellectual Disability Syndrome Featuring Transcriptional and Chromatin Dysfunction","volume":"100","author":"Gabriele","year":"2017","journal-title":"Am. 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A"}],"container-title":["Children"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/2227-9067\/10\/4\/623\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,10]],"date-time":"2025-10-10T19:03:38Z","timestamp":1760123018000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/2227-9067\/10\/4\/623"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,3,26]]},"references-count":14,"journal-issue":{"issue":"4","published-online":{"date-parts":[[2023,4]]}},"alternative-id":["children10040623"],"URL":"https:\/\/doi.org\/10.3390\/children10040623","relation":{},"ISSN":["2227-9067"],"issn-type":[{"value":"2227-9067","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,3,26]]}}}