{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,10]],"date-time":"2025-10-10T01:43:19Z","timestamp":1760060599387,"version":"build-2065373602"},"reference-count":11,"publisher":"MDPI AG","issue":"9","license":[{"start":{"date-parts":[[2025,9,2]],"date-time":"2025-09-02T00:00:00Z","timestamp":1756771200000},"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>Background: Hajdu-Cheney Syndrome is an autosomal dominantly inherited disease, with less than 50 patients reported to date. It is associated with gain-of-function variants of the NOTCH2 gene on chromosome 1p12. Methods: Here we present a case of NOTCH2 gene-associated Hajdu-Cheney syndrome with a progressive basilar impression and consecutive hydrocephalus. While the neuropsychologic development of the patient remained uneventful, allowing him to obtain his college exam, neurosurgical and orthopedic interventions became necessary to treat basal invagination and hydrocephalus at the age of 13 years. Results: Finally, the progressive compression of the medulla oblongata led to respiratory problems with the need for tracheotomy. The patient succumbed to his disease at the age of 18. Conclusions: To our knowledge, this is the first case in which a combination of hydrocephalus and basilar impression lead to a fatal outcome in spite of preemptive surgical interventions.<\/jats:p>","DOI":"10.3390\/children12091173","type":"journal-article","created":{"date-parts":[[2025,9,2]],"date-time":"2025-09-02T16:05:22Z","timestamp":1756829122000},"page":"1173","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Hajdu-Cheney Syndrome with Fatal Progressive Basilar Invagination: Illustrative Case"],"prefix":"10.3390","volume":"12","author":[{"given":"Alim Emre","family":"Basaran","sequence":"first","affiliation":[{"name":"Department of Neurosurgery, University Hospital Leipzig, 04103 Leipzig, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7026-2837","authenticated-orcid":false,"given":"Matthias","family":"Krause","sequence":"additional","affiliation":[{"name":"Department of Neurosurgery, University Hospital Leipzig, 04103 Leipzig, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4680-0412","authenticated-orcid":false,"given":"Johannes","family":"Wach","sequence":"additional","affiliation":[{"name":"Department of Neurosurgery, University Hospital Leipzig, 04103 Leipzig, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8319-0847","authenticated-orcid":false,"given":"Erdem","family":"G\u00fcresir","sequence":"additional","affiliation":[{"name":"Department of Neurosurgery, University Hospital Leipzig, 04103 Leipzig, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2963-4344","authenticated-orcid":false,"given":"Ulf","family":"Nestler","sequence":"additional","affiliation":[{"name":"Department of Neurosurgery, University Hospital Leipzig, 04103 Leipzig, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Christoph-Eckhard","family":"Heyde","sequence":"additional","affiliation":[{"name":"Department of Orthopaedic, Trauma and Plastic Surgery, University Hospital Leipzig, 04103 Leipzig, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1928-5686","authenticated-orcid":false,"given":"Nicolas Heinz","family":"von der H\u00f6h","sequence":"additional","affiliation":[{"name":"Department of Orthopaedic, Trauma and Plastic Surgery, University Hospital Leipzig, 04103 Leipzig, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2025,9,2]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","unstructured":"Cort\u00e9s-Mart\u00edn, J., D\u00edaz-Rodr\u00edguez, L., Piqueras-Sola, B., Rodr\u00edguez-Blanque, R., Bermejo-Fern\u00e1ndez, A., and S\u00e1nchez-Garc\u00eda, J.C. (2020). Hajdu-Cheney Syndrome: A Systematic Review of the Literature. Int. J. Environ. Res. Public Health, 17.","DOI":"10.32545\/encyclopedia202009.0003.v3"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"306","DOI":"10.1038\/ng.778","article-title":"Truncating mutations in the last exon of NOTCH2 cause a rare skeletal disorder with osteoporosis","volume":"43","author":"Isidor","year":"2011","journal-title":"Nat. Genet."},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"303","DOI":"10.1038\/ng.779","article-title":"Mutations in NOTCH2 cause Hajdu-Cheney syndrome, a disorder of severe and progressive bone loss","volume":"43","author":"Simpson","year":"2011","journal-title":"Nat. Genet."},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"138","DOI":"10.1136\/jmedgenet-2011-100544","article-title":"NOTCH2 mutations in Alagille syndrome","volume":"49","author":"Kamath","year":"2012","journal-title":"J. Med. 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Part A"},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"1005","DOI":"10.1007\/s00198-023-06668-z","article-title":"Exploratory use of romosuzumab for osteoporosis in a patient with Hajdu-Cheney syndrome: A case report","volume":"34","author":"Kim","year":"2023","journal-title":"Osteoporos. Int."}],"container-title":["Children"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/2227-9067\/12\/9\/1173\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,9]],"date-time":"2025-10-09T18:38:20Z","timestamp":1760035100000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/2227-9067\/12\/9\/1173"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,9,2]]},"references-count":11,"journal-issue":{"issue":"9","published-online":{"date-parts":[[2025,9]]}},"alternative-id":["children12091173"],"URL":"https:\/\/doi.org\/10.3390\/children12091173","relation":{},"ISSN":["2227-9067"],"issn-type":[{"type":"electronic","value":"2227-9067"}],"subject":[],"published":{"date-parts":[[2025,9,2]]}}}