{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,27]],"date-time":"2026-02-27T05:08:25Z","timestamp":1772168905124,"version":"3.50.1"},"update-to":[{"DOI":"10.12688\/f1000research.154409.1","type":"new_version","label":"New version","source":"publisher","updated":{"date-parts":[[2024,10,30]],"date-time":"2024-10-30T00:00:00Z","timestamp":1730246400000}}],"reference-count":10,"publisher":"F1000 Research Ltd","license":[{"start":{"date-parts":[[2024,10,30]],"date-time":"2024-10-30T00:00:00Z","timestamp":1730246400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["f1000research.com"],"crossmark-restriction":false},"short-container-title":["F1000Res"],"abstract":"<ns3:p>Occipital horn syndrome (OHS) is a rare genetic disease and copper transport disorder caused by a faulty ATP7A gene with multisystemic presentations, most originally related to musculoskeletal and connective tissue affections. In our case, a male neonate with OHS presented soon after birth with pathognomonic occipital exostosis, cutis laxa at the nape region, and widely opened skull sutures and fontanels. A skeletal survey showed occipital exostosis projecting from the line of insertion of the trapezius muscle and wide fontanels on skull X-ray films with no exostoses or deformities elsewhere. In addition to our case report being the second reported case for the condition detected early in the neonatal period, it also emphasizes the importance of investigating any sign thoroughly, as it may be an early alarming sign of a progressive disease that may affect the patient\u2019s quality of life. In addition, it highlights the value of early diagnosis and multidisciplinary management of these patients.<\/ns3:p>","DOI":"10.12688\/f1000research.154409.2","type":"journal-article","created":{"date-parts":[[2024,10,30]],"date-time":"2024-10-30T11:25:54Z","timestamp":1730287554000},"page":"864","update-policy":"https:\/\/doi.org\/10.12688\/f1000research.crossmark-policy","source":"Crossref","is-referenced-by-count":0,"title":["Case Report: A male newborn with occipital horn syndrome"],"prefix":"10.12688","volume":"13","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-6739-1371","authenticated-orcid":false,"given":"Marian K. H.","family":"Georgeos","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Engy M.","family":"Hanna","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"2560","published-online":{"date-parts":[[2024,10,30]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","first-page":"764-766","DOI":"10.1177\/088307380101601011","article-title":"Neuropathology of occipital horn syndrome.","volume":"16","author":"C Palmer","year":"2001 Oct","journal-title":"J. Child Neurol."},{"key":"ref2","doi-asserted-by":"publisher","first-page":"237-250","DOI":"10.2174\/138920012799320455","article-title":"Inherited copper transport disorders: biochemical mechanisms, diagnosis, and treatment.","volume":"13","author":"H Kodama","year":"2012 Mar","journal-title":"Curr. 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Genet."},{"key":"ref9","first-page":"1993-2024","author":"S Kaler","year":"2003 May 9 updated 2021 Apr 15","journal-title":"GeneReviews\u00ae."},{"key":"ref10","doi-asserted-by":"publisher","first-page":"207-212","DOI":"10.1089\/ped.2020.1156","article-title":"Overview of the Pulmonary Manifestations in Patients with Autosomal Recessive Cutis Laxa Type IC.","volume":"33","author":"H Mutlu-Albayrak","year":"2020 Dec","journal-title":"Pediatr. Allergy Immunol. 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