{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,9]],"date-time":"2026-01-09T13:32:45Z","timestamp":1767965565491,"version":"3.49.0"},"reference-count":31,"publisher":"MDPI AG","issue":"5","license":[{"start":{"date-parts":[[2023,2,24]],"date-time":"2023-02-24T00:00:00Z","timestamp":1677196800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Diagnostics"],"abstract":"<jats:p>Background: We describe patients who were recognized via conventional radiographs of the skull as manifesting wormian bones. Wormian bones are not a specific diagnostic entity and can be seen in variable forms of syndromic disorders. Materials and Methods: Seven children and three adults (of 10\u201328 years) were seen and diagnosed in our departments. The principal complaints for the pediatric and adult group were: ligamentous hyperlaxity, a history of delayed walking and occasional fractures, which later in life started to manifest a constellation of neurological symptoms such as nystagmus, persistent headache, and apnea. Conventional radiographs were the first traditional tools used to recognize wormian bones. We performed 3D reconstruction CT scans to further understand the precise etiology and the nature of these wormian bones and attempted to connect them with a broad spectrum of unpleasant clinical presentations. Our group of patients was consistent with the phenotypic and genotypic diagnoses of osteogenesis imperfecta type I and type IV as well as patients with multicentric carpotarsal osteolysis syndrome. Results: Three-dimensional reconstruction CT scan of the skulls confirmed that these worm-like phenotypes are in fact stemmed from the progressive softening of the sutures. The overall phenotype of the melted sutures is akin to overly stretched pastry. The most concerning sutures in this pathological process are the lambdoid. The overstretching of the lambdoid sutures was responsible for the development of sub-clinical basilar impression\/invagination. Patients with certain forms of skeletal dysplasia such as osteogenesis imperfecta type I and IV manifested the heterozygous mutation of COL1A1\/COLA2, shown as typical overstretching of the sutures. Similarly, patients with multicentric carpotarsal osteolysis syndrome with a heterozygous missense mutation of MAFB also manifested the phenotype of overly stretched pastry along the skull sutures. Conclusion: What we encountered via 3D reconstruction CT scan in our group of patients was entirely different than the traditional description that can be found in all relevant literature of the last decades. The worm-like phenomenon is in fact a pathological sequel occurring as a result of a progressive softening of the sutures, which results in the overstretching of the lambdoid sutures, a pathological process roughly similar to an overly stretched soft pastry. This softening is totally connected to the weight of the cerebrum (the occipital lobe of the cerebrum). The lambdoid sutures represent the weight-bearing zone of the skull. When these joints are loose and soft, they adversely alter the anatomical structures of the skull and lead to a highly hazardous derangement of the craniocervical junction. The latter causes the pathological upward invasion of the dens into the brain stem, leading to the development of morbid\/mortal basilar impression\/invagination.<\/jats:p>","DOI":"10.3390\/diagnostics13050874","type":"journal-article","created":{"date-parts":[[2023,2,27]],"date-time":"2023-02-27T04:13:16Z","timestamp":1677471196000},"page":"874","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["The Tomographic Study and the Phenotype of Wormian Bones"],"prefix":"10.3390","volume":"13","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-1599-6050","authenticated-orcid":false,"given":"Ali","family":"Al Kaissi","sequence":"first","affiliation":[{"name":"Pediatric Department, Orthopedic Hospital of Speising, 1130 Vienna, Austria"},{"name":"National Medical Research Center for Traumatology and Orthopedics n.a. G.A. Ilizarov, 640014 Kurgan, Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8293-0521","authenticated-orcid":false,"given":"Sergey","family":"Ryabykh","sequence":"additional","affiliation":[{"name":"National Medical Research Center for Traumatology and Orthopedics n.a. G.A. Ilizarov, 640014 Kurgan, Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Farid","family":"Ben Chehida","sequence":"additional","affiliation":[{"name":"Ibn Zohr Diagnostic Institute of Radiology, Tunis 1003, Tunisia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hamza","family":"Al Kaissi","sequence":"additional","affiliation":[{"name":"Surgical Outpatient Clinic of Landesklinikum Hospital, 3400 Klosterneuburg, Austria"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Susanne Gerit","family":"Kircher","sequence":"additional","affiliation":[{"name":"Center of Pathobiochemistry and Genetics, Medical University of Vienna, 1090 Wien, Austria"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Martin J.","family":"Stransky","sequence":"additional","affiliation":[{"name":"Department of Neurology, Yale School of Medicine (USA), New Haven, CT 06510, USA"},{"name":"Policlinic at N\u00e1rodn\u00ed, 110 00 Prague, Czech Republic"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Franz","family":"Grill","sequence":"additional","affiliation":[{"name":"Pediatric Department, Orthopedic Hospital of Speising, 1130 Vienna, Austria"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2023,2,24]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"922","DOI":"10.1002\/ca.22262","article-title":"Wormian bones: A review","volume":"26","author":"Bellary","year":"2013","journal-title":"Clin. 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Spine"}],"container-title":["Diagnostics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/2075-4418\/13\/5\/874\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,10]],"date-time":"2025-10-10T18:41:29Z","timestamp":1760121689000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/2075-4418\/13\/5\/874"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,2,24]]},"references-count":31,"journal-issue":{"issue":"5","published-online":{"date-parts":[[2023,3]]}},"alternative-id":["diagnostics13050874"],"URL":"https:\/\/doi.org\/10.3390\/diagnostics13050874","relation":{},"ISSN":["2075-4418"],"issn-type":[{"value":"2075-4418","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,2,24]]}}}