{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,30]],"date-time":"2025-10-30T07:18:10Z","timestamp":1761808690937,"version":"build-2065373602"},"reference-count":56,"publisher":"MDPI AG","issue":"7","license":[{"start":{"date-parts":[[2024,4,5]],"date-time":"2024-04-05T00:00:00Z","timestamp":1712275200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"AGAUR Consolidated Research Group","award":["2021SGR00706","23S00731-001"],"award-info":[{"award-number":["2021SGR00706","23S00731-001"]}]},{"name":"Ajuntament de Barcelona","award":["2021SGR00706","23S00731-001"],"award-info":[{"award-number":["2021SGR00706","23S00731-001"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Diagnostics"],"abstract":"<jats:p>Turner Syndrome (TS) is a rare genetic disorder that affects females when one of the X chromosomes is partially or completely missing. Due to high genetic and phenotypic variability, TS diagnosis is challenging and is often delayed until adolescence, resulting in poor clinical management. Numerous oral, dental and craniofacial anomalies have been associated with TS, yet a comprehensive description is still lacking. This study addresses this gap through a detailed analysis of oral health and craniofacial characteristics in a cohort of 15 females with TS and their first-degree relatives. Subjects with TS ranged from 3 to 48 years old, none showed evidence of periodontal disease and only the youngest was in mixed dentition. Using the Multifunction System, we identified an aggregation of multiple signs and symptoms in each TS subject, including tooth anomalies (supernumerary molars, agenesis, microdontia, enamel defects, alterations in eruption patterns -advanced and delayed for chronological age-, crowding, rotations and transpositions), malocclusion (class II\/1 and II\/2) and Class II facial profile, while relatives exhibited fewer manifestations. The early detection of these signs and symptoms is crucial for appropriate referral and the optimal clinical management of TS, especially during the critical period of 9 to 10 years when congenital dental anomalies appear. The use of an established taxonomy to describe these phenotypic features is essential for early detection. Multidisciplinary teams are required to ensure holistic care management in rare diseases like TS.<\/jats:p>","DOI":"10.3390\/diagnostics14070769","type":"journal-article","created":{"date-parts":[[2024,4,5]],"date-time":"2024-04-05T08:27:52Z","timestamp":1712305672000},"page":"769","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Comprehensive Oral Diagnosis and Management for Women with Turner Syndrome"],"prefix":"10.3390","volume":"14","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-8776-0365","authenticated-orcid":false,"given":"Victoria","family":"Tall\u00f3n-Walton","sequence":"first","affiliation":[{"name":"Human Anatomy and Embryology Unit, Experimental Pathology and Therapeutics Department, University of Barcelona, 08907 Barcelona, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Meritxell","family":"S\u00e1nchez-Molins","sequence":"additional","affiliation":[{"name":"Odonto-Stomatology Department, University of Barcelona, 08907 Barcelona, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wenwen","family":"Hu","sequence":"additional","affiliation":[{"name":"Human Anatomy and Embryology Unit, Experimental Pathology and Therapeutics Department, University of Barcelona, 08907 Barcelona, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Neus","family":"Mart\u00ednez-Abad\u00edas","sequence":"additional","affiliation":[{"name":"Evolutionary Biology, Ecology and Environmental Sciences Department, University of Barcelona, 08007 Barcelona, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9116-9167","authenticated-orcid":false,"given":"Aroa","family":"Casado","sequence":"additional","affiliation":[{"name":"Evolutionary Biology, Ecology and Environmental Sciences Department, University of Barcelona, 08007 Barcelona, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4585-4953","authenticated-orcid":false,"given":"Mar\u00eda Cristina","family":"Manzanares-C\u00e9spedes","sequence":"additional","affiliation":[{"name":"Human Anatomy and Embryology Unit, Experimental Pathology and Therapeutics Department, University of Barcelona, 08907 Barcelona, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2024,4,5]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"81","DOI":"10.1007\/BF01213097","article-title":"Chromosome abnormalities found among 34,910 newborn children: Results from a 13-year incidence study in Arhus, Denmark","volume":"87","author":"Nielsen","year":"1991","journal-title":"Hum. 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