{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,8]],"date-time":"2026-06-08T01:07:40Z","timestamp":1780880860812,"version":"3.54.1"},"reference-count":5,"publisher":"MDPI AG","issue":"4","license":[{"start":{"date-parts":[[2022,4,8]],"date-time":"2022-04-08T00:00:00Z","timestamp":1649376000000},"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>Introduction: Saul Wilson syndrome (SWS) is a rare congenital syndrome characterized by a variety of symptoms, mostly skeletal changes. Saul and Wilson were the first to describe children with extremely short stature and craniofacial dysmorphism. Case report: We present a case of a 15-years-old boy with clinical and radiological characteristics of SWS. Genetic examination identified a pathogenic heterozygous variant in the COG4 gene. Magnetic resonance imaging revealed a critical stenosis of the cranio-cervical junction (CCJ) which required surgical treatment to attempt sufficient neurological decompression. The patient underwent decompression of CCJ under general anesthesia. There was no significant radiological and clinical improvement during the postoperative period. Conclusions: SWS is presented as an extremely rare congenital disease in children. The clinical condition of our patient confined surgical possibilities, therefore further treatment in such patients should be appropriately evaluated.<\/jats:p>","DOI":"10.3390\/children9040532","type":"journal-article","created":{"date-parts":[[2022,4,8]],"date-time":"2022-04-08T12:11:14Z","timestamp":1649419874000},"page":"532","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Severe Cranio-Cervical Stenosis in a Child with Saul-Wilson Syndrome: A Case Report"],"prefix":"10.3390","volume":"9","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, J. Huttlera 4, 31000 Osijek, Croatia"},{"name":"Faculty of Medicine, Josip Juraj Strossmayer University of Osijek, 31000 Osijek, Croatia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Silvija","family":"Pu\u0161elji\u0107","sequence":"additional","affiliation":[{"name":"Faculty of Medicine, Josip Juraj Strossmayer University of Osijek, 31000 Osijek, Croatia"},{"name":"Pediatric Clinic, University Hospital Center Osijek, J. Huttlera 4, 31000 Osijek, Croatia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"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":"Pediatric Clinic, University Hospital Center Osijek, J. Huttlera 4, 31000 Osijek, Croatia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"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, J. Huttlera 4, 31000 Osijek, Croatia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Igor","family":"Marjanac","sequence":"additional","affiliation":[{"name":"Faculty of Medicine, Josip Juraj Strossmayer University of Osijek, 31000 Osijek, Croatia"},{"name":"Pediatric Clinic, University Hospital Center Osijek, J. Huttlera 4, 31000 Osijek, Croatia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Borna","family":"Biljan","sequence":"additional","affiliation":[{"name":"Faculty of Medicine, Josip Juraj Strossmayer University of Osijek, 31000 Osijek, Croatia"},{"name":"Pediatric Clinic, University Hospital Center Osijek, J. Huttlera 4, 31000 Osijek, Croatia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4256-0183","authenticated-orcid":false,"given":"Kre\u0161imir","family":"\u0160anti\u0107","sequence":"additional","affiliation":[{"name":"Faculty of Medicine, Josip Juraj Strossmayer University of Osijek, 31000 Osijek, Croatia"},{"name":"Pediatric Clinic, University Hospital Center Osijek, J. Huttlera 4, 31000 Osijek, Croatia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ivana","family":"Lenz","sequence":"additional","affiliation":[{"name":"Faculty of Medicine, Josip Juraj Strossmayer University of Osijek, 31000 Osijek, Croatia"},{"name":"Pediatric Clinic, University Hospital Center Osijek, J. Huttlera 4, 31000 Osijek, Croatia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nora","family":"Pu\u0161elji\u0107","sequence":"additional","affiliation":[{"name":"Faculty of Medicine, Josip Juraj Strossmayer University of Osijek, 31000 Osijek, Croatia"},{"name":"Pediatric Clinic, University Hospital Center Osijek, J. Huttlera 4, 31000 Osijek, Croatia"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2022,4,8]]},"reference":[{"key":"ref_1","unstructured":"Ferreira, C.R., Pagon, R.A., Adam, M.P., Ardinger, H.H., Wallace, S.E., Bean, L.J.H., Gripp, K.W., Mirzaa, G.M., and Amemiya, A. (2020). Saul-Wilson Syndrome. GeneReviews\u00ae [Internet], University of Washington."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"405","DOI":"10.1083\/jcb.200202016","article-title":"Characterization of a mammalian Golgi-localized protein complex, COG, that is required for normal Golgi morphology and function","volume":"157","author":"Ungar","year":"2002","journal-title":"J. Cell Biol."},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"388","DOI":"10.1002\/ajmg.1320350315","article-title":"A \u201cnew\u201d skeletal dysplasia in two unrelated boys","volume":"35","author":"Saul","year":"1990","journal-title":"Am. J. Med. Genet."},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"553","DOI":"10.1016\/j.ajhg.2018.09.003","article-title":"A recurrent de novo heterozygous COG4 substitution leads to saul-wilson syndrome, disrupted vesicular trafficking, and Altered Proteoglycan Glycosylation","volume":"103","author":"Ferreira","year":"2018","journal-title":"Am. J. Hum. Genet."},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"186","DOI":"10.14245\/ns.1938138.069","article-title":"A review of a new clinical entity of \u2018central atlantoaxial instability\u2019: Expanding horizons of craniovertebral junction surgery","volume":"16","author":"Goel","year":"2019","journal-title":"Neurospine"}],"container-title":["Children"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/2227-9067\/9\/4\/532\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,10]],"date-time":"2025-10-10T22:50:35Z","timestamp":1760136635000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/2227-9067\/9\/4\/532"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,4,8]]},"references-count":5,"journal-issue":{"issue":"4","published-online":{"date-parts":[[2022,4]]}},"alternative-id":["children9040532"],"URL":"https:\/\/doi.org\/10.3390\/children9040532","relation":{},"ISSN":["2227-9067"],"issn-type":[{"value":"2227-9067","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,4,8]]}}}