{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,8]],"date-time":"2026-06-08T20:58:24Z","timestamp":1780952304097,"version":"3.54.1"},"reference-count":44,"publisher":"Oxford University Press (OUP)","issue":"4","license":[{"start":{"date-parts":[[2026,6,8]],"date-time":"2026-06-08T00:00:00Z","timestamp":1780876800000},"content-version":"vor","delay-in-days":6,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2026,6,2]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Aim<\/jats:title>\n                    <jats:p>To compare orofacial dysfunctions (OFD) in individuals with rare diseases, with and without open bite (OB) malocclusion, and to explore the associated symptoms.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Patients and Methods<\/jats:title>\n                    <jats:p>In total, data for 788 individuals representing 164 different rare diseases, were collected from the MHC database for the period of 2013\u20132019. The inclusion criteria were having a rare disease and having completed the Nordic Orofacial Test\u2014Screening (NOT-S). OB was categorized as anterior OB (AOB), lateral OB (LOB), and severe anterior OB (AOBS). The sample was divided into two groups: 142 with OB (mean age, 14.2 \u00b1 13.0 years; 81 males, 61 females); and 557 with normal vertical relation (NVR) (mean age, 15.1 \u00b1 12.9 years; 292 males, 265 females). OFD was compared between the groups. Items from the NOT-S test were analysed, and the Odds Ratio (OR) for OB was calculated.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>The OB prevalence was 18%, with AOB being the most-common sub-type (58%), followed by AOBS (15%) and LOB (13%). Nemaline myopathy was the disease with the highest prevalence rates for OB and AOBS. The OB group had a larger proportion of OFD than the NVR group in 6\/12 domains of the NOT-S. Deviant tongue posture was most strongly associated with OB (OR 6.062).<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>Two-thirds of the individuals had OFD, and OB was a common finding (18%). Rare diseases with symptoms of orofacial hypotonia, craniofacial abnormalities and macroglossia show a higher prevalence of OB. A deviant tongue posture showed the highest odds for OB in this group of rare diseases.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1093\/ejo\/cjag037","type":"journal-article","created":{"date-parts":[[2026,5,5]],"date-time":"2026-05-05T11:31:18Z","timestamp":1777980678000},"source":"Crossref","is-referenced-by-count":0,"title":["Open bite malocclusion and orofacial dysfunction in patients with rare diseases"],"prefix":"10.1093","volume":"48","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-2910-026X","authenticated-orcid":false,"given":"Christina","family":"Havner","sequence":"first","affiliation":[{"name":"Department of Orthodontics, Institute of Odontology, The Sahlgrenska Academy, University of Gothenburg , Gothenburg, PO Box 450, Gothenburg SE-405 30 ,","place":["Sweden"]},{"name":"Mun-H-Center, Orofacial Resource Center for Rare Diseases, Public Dental Service , Vastra Gotalandsregionen, PO Box 7163 SE-402 33, Gothenburg ,","place":["Sweden"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0472-1783","authenticated-orcid":false,"given":"\u00c5sa","family":"Mogren","sequence":"additional","affiliation":[{"name":"Mun-H-Center, Orofacial Resource Center for Rare Diseases, Public Dental Service , Vastra Gotalandsregionen, PO Box 7163 SE-402 33, Gothenburg ,","place":["Sweden"]},{"name":"Speech and Language Pathology Unit, Department of Health and Rehabilitation, Institute of Neuroscience and Physiology, The Sahlgrenska Academy, University of Gothenburg , PO Box 455, SE-405 30 Gothenburg ,","place":["Sweden"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lotta","family":"Sj\u00f6green","sequence":"additional","affiliation":[{"name":"Mun-H-Center, Orofacial Resource Center for Rare Diseases, Public Dental Service , Vastra Gotalandsregionen, PO Box 7163 SE-402 33, Gothenburg ,","place":["Sweden"]},{"name":"Speech and Language Pathology Unit, Department of Health and Rehabilitation, Institute of Neuroscience and Physiology, The Sahlgrenska Academy, University of Gothenburg , PO Box 455, SE-405 30 Gothenburg ,","place":["Sweden"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2438-8516","authenticated-orcid":false,"given":"Anna","family":"Westerlund","sequence":"additional","affiliation":[{"name":"Department of Orthodontics, Institute of Odontology, The Sahlgrenska Academy, University of Gothenburg , Gothenburg, PO Box 450, Gothenburg SE-405 30 ,","place":["Sweden"]},{"name":"Mun-H-Center, Orofacial Resource Center for Rare Diseases, Public Dental Service , Vastra Gotalandsregionen, PO Box 7163 SE-402 33, Gothenburg ,","place":["Sweden"]}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2026,6,8]]},"reference":[{"key":"2026060816115534000_cjag037-B1","doi-asserted-by":"publisher","first-page":"281","DOI":"10.1007\/s00056-016-0029-1","article-title":"Etiology of anterior open bite: a review","volume":"77","author":"Rijpstra","year":"2016","journal-title":"J Orofac Orthop"},{"key":"2026060816115534000_cjag037-B2","doi-asserted-by":"publisher","first-page":"286","DOI":"10.23804\/ejpd.2021.22.04.5","article-title":"Open bite and atypical swallowing: orthodontic treatment, speech therapy or both? 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