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The newborn\u2019s phenotype is characterized by a combination of serious anatomical abnormalities such as open-book cerebral hemispheres, defective lobulation of the lungs (one lobe on the left, two on the right), a smaller right kidney, a smooth cerebral surface, and a specific keyhole-shaped defect in the skull base, primarily associated with hydrocephalus.<\/jats:p>","DOI":"10.3390\/diagnostics15020202","type":"journal-article","created":{"date-parts":[[2025,1,17]],"date-time":"2025-01-17T03:33:02Z","timestamp":1737084782000},"page":"202","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Hydrolethalus Syndrome: A Case of a Rare Congenital Disorder"],"prefix":"10.3390","volume":"15","author":[{"given":"Valerica","family":"Belengeanu","sequence":"first","affiliation":[{"name":"Department of Medicine, Faculty of Medicine, \u201cVasile Goldi\u0219\u201d Western University of Arad, 94-96 Revolutiei Blvd., 310025 Arad, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2585-2632","authenticated-orcid":false,"given":"Diana","family":"Marian","sequence":"additional","affiliation":[{"name":"Department of Dentistry, Faculty of Dentistry, \u201cVasile Goldi\u0219\u201d Western University of Arad, 94-96 Revolutiei Blvd., 310025 Arad, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Horia Ademir","family":"Stana","sequence":"additional","affiliation":[{"name":"Department of Medicine, Faculty of Medicine, \u201cVasile Goldi\u0219\u201d Western University of Arad, 94-96 Revolutiei Blvd., 310025 Arad, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9122-1401","authenticated-orcid":false,"given":"Carolina","family":"Cojocariu","sequence":"additional","affiliation":[{"name":"Department of Dentistry, Faculty of Dentistry, \u201cVasile Goldi\u0219\u201d Western University of Arad, 94-96 Revolutiei Blvd., 310025 Arad, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0550-8404","authenticated-orcid":false,"given":"Cristina","family":"Popescu","sequence":"additional","affiliation":[{"name":"Faculty of Pharmacy, \u201cVasile Goldi\u0219\u201d Western University of Arad, 94-96 Revolutiei Blvd., 310025 Arad, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0003-6347-3497","authenticated-orcid":false,"given":"Ioana Elena","family":"Lile","sequence":"additional","affiliation":[{"name":"Department of Dentistry, Faculty of Dentistry, \u201cVasile Goldi\u0219\u201d Western University of Arad, 94-96 Revolutiei Blvd., 310025 Arad, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2025,1,17]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"750","DOI":"10.1097\/NEN.0b013e318180ec2e","article-title":"Hydrolethalus syndrome: Neuropathology of 21 cases confirmed by HYLS1 gene mutation analysis","volume":"67","author":"Paetau","year":"2008","journal-title":"J. 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