{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,10]],"date-time":"2025-10-10T01:31:46Z","timestamp":1760059906606,"version":"build-2065373602"},"reference-count":61,"publisher":"MDPI AG","issue":"7","license":[{"start":{"date-parts":[[2025,7,17]],"date-time":"2025-07-17T00:00:00Z","timestamp":1752710400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Biology"],"abstract":"<jats:p>Lateral facial clefts are rare and often part of more complex syndromic neurocristopathies. According to Tessier\u2019s classification, they correspond to facial cleft numbers 6, 7 and 8. Using micro-computer tomography (micro-CT), we analyzed their underlying bone defects (resolution 50 and 55 \u00b5m\/voxel) in the context of the known syndrome-specific genetic background. Lateral facial clefts were diagnosed in three severely affected museum specimens representing mandibulofacial dysostosis type Treacher Collins syndrome (TCS), acrofacial dysostosis syndrome of Rodriguez (AFD-Rod) and tetra-amelia syndrome (TETAMS). The TCS specimen mainly showed an absence of the zygomatic bones and most of the lateral maxilla. The AFD-Rod specimen showed an extensive defect of the lateral maxilla, zygomatic bones, and mandible. The TETAMS specimen showed almost isolated agnathia. Possible relationships are discussed between the diverse facial bone defects due to apoptosis of neural crest-derived cells, known to be associated with ribosomopathies and spliceosomopathies, such as TCS and AFD-Rod, and the more targeted bone defects due to genetic variants known to cause TETAMS.<\/jats:p>","DOI":"10.3390\/biology14070872","type":"journal-article","created":{"date-parts":[[2025,7,17]],"date-time":"2025-07-17T14:13:43Z","timestamp":1752761623000},"page":"872","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Facial Bone Defects Associated with Lateral Facial Clefts Tessier Type 6, 7 and 8 in Syndromic Neurocristopathies: A Detailed Micro-CT Analysis on Historical Museum Specimens"],"prefix":"10.3390","volume":"14","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-3008-7824","authenticated-orcid":false,"given":"Jana","family":"Behunova","sequence":"first","affiliation":[{"name":"Institute of Medical Genetics, Medical University of Vienna, 1090 Vienna, Austria"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5215-623X","authenticated-orcid":false,"given":"Helga","family":"Rehder","sequence":"additional","affiliation":[{"name":"Institute of Medical Genetics, Medical University of Vienna, 1090 Vienna, Austria"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anton","family":"Dobsak","sequence":"additional","affiliation":[{"name":"Karl Donath Laboratory, University Clinic of Dentistry, Medical University of Vienna, 1090 Vienna, Austria"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0127-5837","authenticated-orcid":false,"given":"Susanne G.","family":"Kircher","sequence":"additional","affiliation":[{"name":"Institute of Medical Genetics, Medical University of Vienna, 1090 Vienna, Austria"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1564-0847","authenticated-orcid":false,"given":"Lucas L.","family":"Boer","sequence":"additional","affiliation":[{"name":"Department of Imaging, Section Anatomy and Museum for Anatomy and Pathology, Radboud University, Medical Center, 6525 Nijmegen, The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1973-9281","authenticated-orcid":false,"given":"Andreas A.","family":"Mueller","sequence":"additional","affiliation":[{"name":"Department of Oral and Craniomaxillofacial Surgery, University Hospital Basel and University Children\u2019s Hospital Basel, 4056 Basel, Switzerland"},{"name":"Facial and Cranial Anomalies Research Group, Department of Clinical Research, University of Basel, 4001 Basel, Switzerland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Janina M.","family":"Patsch","sequence":"additional","affiliation":[{"name":"Department of Biomedical Imaging and Image-Guided Therapy, Division of General and Pediatric Radiology, Medical University of Vienna, 1090 Vienna, Austria"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eduard","family":"Winter","sequence":"additional","affiliation":[{"name":"Pathological-Anatomical Collection in the Narrenturm, Natural History Museum Vienna, 1090 Vienna, Austria"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Roelof-Jan","family":"Oostra","sequence":"additional","affiliation":[{"name":"Department of Medical Biology Section Clinical Anatomy and Embryology, Amsterdam University Medical Center, Academic Medical Center, University of Amsterdam, 1098 Amsterdam, The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eva","family":"Piehslinger","sequence":"additional","affiliation":[{"name":"Department of Prosthodontics, University Clinic of Dentistry, Medical University of Vienna, 1090 Vienna, Austria"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8835-369X","authenticated-orcid":false,"given":"Karoline M.","family":"Reich","sequence":"additional","affiliation":[{"name":"Karl Donath Laboratory, University Clinic of Dentistry, Medical University of Vienna, 1090 Vienna, Austria"},{"name":"Department of Prosthodontics, University Clinic of Dentistry, Medical University of Vienna, 1090 Vienna, Austria"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2025,7,17]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"110","DOI":"10.1097\/SCS.0b013e31815ca1ba","article-title":"Rare craniofacial clefts: A surgical classification","volume":"19","author":"Fearon","year":"2008","journal-title":"J. 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