{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,21]],"date-time":"2026-09-21T21:06:37Z","timestamp":1790024797235,"version":"4.0.1"},"reference-count":30,"publisher":"MDPI AG","issue":"12","license":[{"start":{"date-parts":[[2020,6,17]],"date-time":"2020-06-17T00:00:00Z","timestamp":1592352000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJERPH"],"abstract":"<jats:p>Background: Primary ciliary dyskinesia (PCD) is a rare, ciliopathic disorder. In many ciliopathies, dental anomalies are observed alongside other symptoms of the disease. To date, there are no published reports concerning the dental developmental problems that are associated with ciliary defects in PCD patients. Methods: Patients suffering from PCD underwent dental clinical examination, which included the assessment of developmental disorders regarding the number and morphological structure of the teeth (size and shape) as well as developmental disorders of mineralised dental tissues. Then, three-dimensional radiographic examination was performed utilising Cone Beam Computed Tomography (CBCT). Results: Four PCD patients, aged 31-54, agreed to enter the study. Dental examinations showed the presence of dental developmental disorders in three of them. Additionally, CBCT showed abnormalities in those patients. Conclusions: 1. The dental phenotype in PCD patients seems to be heterogeneous. Tooth developmental disorders resulting from abnormal odontogenesis may be a symptom of PCD that is concomitant with other developmental abnormalities resulting from malfunctioning primary cilia. 2. Patients with ciliopathies are likely to develop dental developmental defects. Therefore, beginning in early childhood, they should be included in a targeted specialised dental programme to enable early diagnosis and to ensure dedicated preventive and therapeutic measures.<\/jats:p>","DOI":"10.3390\/ijerph17124337","type":"journal-article","created":{"date-parts":[[2020,6,17]],"date-time":"2020-06-17T13:11:32Z","timestamp":1592399492000},"page":"4337","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":9,"title":["Dental Anomalies in Rare, Genetic Ciliopathic Disorder\u2014A Case Report and Review of Literature"],"prefix":"10.3390","volume":"17","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-3398-8812","authenticated-orcid":false,"given":"Tamara","family":"Pawlaczyk-Kamie\u0144ska","sequence":"first","affiliation":[{"name":"Department of Risk Group Dentistry, Poznan University of Medical Sciences, Bukowska 70, 60-812 Pozna\u0144, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hanna","family":"Winiarska","sequence":"additional","affiliation":[{"name":"Department of Pulmonology, Allergology and Respiratory Oncology, Poznan University of Medical Sciences, Szamarzewskiego 82\/84, 60-569 Pozna\u0144, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tomasz","family":"Kulczyk","sequence":"additional","affiliation":[{"name":"Section of Dental Radiology, Department of Biomaterials and Experimental Dentistry, Poznan University of Medical Sciences, Bukowska 70, 60-812 Pozna\u0144, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Szczepan","family":"Cofta","sequence":"additional","affiliation":[{"name":"Department of Pulmonology, Allergology and Respiratory Oncology, Poznan University of Medical Sciences, Szamarzewskiego 82\/84, 60-569 Pozna\u0144, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2020,6,17]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"67","DOI":"10.2147\/TACG.S127129","article-title":"Primary ciliary dyskinesia: Mechanisms and management","volume":"10","author":"Damseh","year":"2017","journal-title":"Appl. Clin. Genet."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"1248","DOI":"10.1183\/09031936.00001010","article-title":"Factors influencing age at diagnosis of primary ciliary dyskinesia in European children","volume":"36","author":"Kuehni","year":"2010","journal-title":"Eur. Respir. J."},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"e24","DOI":"10.1164\/rccm.201805-0819ST","article-title":"Diagnosis of Primary Ciliary Dyskinesia. An Official American Thoracic Society Clinical Practice Guideline","volume":"197","author":"Shapiro","year":"2018","journal-title":"Am. J. Respir. Crit. Care Med."},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"1026","DOI":"10.4103\/njcp.njcp_615_18","article-title":"Oral and dental findings in Bardet\u2013Biedl syndrome: A case report","volume":"22","author":"Yalcin","year":"2019","journal-title":"Niger. J. Clin. Pract."},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"1361","DOI":"10.1177\/0022034517716913","article-title":"Oral and Craniofacial Anomalies of Bardet-Biedl Syndrome: Dental Management in the Context of a Rare Disease","volume":"96","author":"Panny","year":"2017","journal-title":"J. Dent. Res."},{"key":"ref_6","first-page":"110","article-title":"Familial case of oral-facial-digital syndrome type 1 (OFD 1)","volume":"71","author":"Miklaszewska","year":"2014","journal-title":"Przegl. Lek."},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"55","DOI":"10.4103\/0976-237X.95106","article-title":"Oral manifestations of Ellis-van Creveld syndrome","volume":"3","author":"Kalaskar","year":"2012","journal-title":"Contemp. Clin. Dent."},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"193","DOI":"10.4103\/1735-3327.178213","article-title":"Ellis\u2013van Creveld syndrome with unusual oral and dental findings: A rare clinical entity","volume":"13","author":"Shaik","year":"2016","journal-title":"Dent. Res. J."},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"143","DOI":"10.4103\/amhs.amhs_37_18","article-title":"Weyers acrofacial dysostosis (Curry-Hall Syndrome): Report of a rare case","volume":"6","author":"Goswami","year":"2018","journal-title":"Arch. Med. Health Sci."},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"728","DOI":"10.5005\/jp-journals-10024-2115","article-title":"Lingual Frenectomy in Joubert Syndrome","volume":"18","author":"Gurjar","year":"2017","journal-title":"J. Contemp. Dent. Pract."},{"key":"ref_11","first-page":"949","article-title":"Cranioectodermal Dysplasia, Sensenbrenner Syndrome, Is a Ciliopathy Caused by Mutations in the IFT122 Gene","volume":"11","author":"Eggenschwiler","year":"2010","journal-title":"Am. J. Hum. Genet."},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"965","DOI":"10.1177\/0022034517713688","article-title":"Role of Primary Cilia in Odontogenesis","volume":"96","author":"Hampl","year":"2017","journal-title":"J. Dent. Res."},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"220","DOI":"10.1111\/j.1365-263X.2005.00629.x","article-title":"Kartagener\u2019s syndrome: Unusual dental morphology","volume":"15","author":"Merrett","year":"2005","journal-title":"Int. J. Paediatr. Dent."},{"key":"ref_14","unstructured":"World Health Organization (1997). Oral health surveys: Basic methods, World Health Organization. [4th ed.]."},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"445","DOI":"10.1177\/00220345890680030201","article-title":"A modified DDE Index for use in epidemiological studies of enamel defects","volume":"68","author":"Clarkson","year":"1989","journal-title":"J. Dent. Res."},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"504","DOI":"10.1016\/j.gde.2009.09.002","article-title":"Molecular genetics of tooth development","volume":"19","author":"Bei","year":"2009","journal-title":"Curr. Opin. Genet. Dev."},{"key":"ref_17","doi-asserted-by":"crossref","first-page":"262","DOI":"10.1111\/jre.12003","article-title":"Cell dynamics in cervical loop epithelium during transition from crown to root: Implications for Hertwig\u2019s epithelial root sheath formation","volume":"48","author":"Sakano","year":"2013","journal-title":"J. Periodonal Res."},{"key":"ref_18","doi-asserted-by":"crossref","first-page":"197","DOI":"10.1016\/j.gep.2013.04.001","article-title":"New population of odontoblasts responsible for tooth root formation","volume":"13","author":"Bae","year":"2013","journal-title":"Gene Expr. Patterns"},{"key":"ref_19","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1111\/j.1600-0722.2007.00504.x","article-title":"Mouse models of tooth abnormalities","volume":"116","author":"Fleischmannova","year":"2008","journal-title":"Eur. J. Oral Sci."},{"key":"ref_20","doi-asserted-by":"crossref","first-page":"1647","DOI":"10.1242\/jcs.00410","article-title":"Epithelial-mesenchymal signalling regulating tooth morphogenesis","volume":"116","author":"Thesleff","year":"2003","journal-title":"J. Cell Sci."},{"key":"ref_21","doi-asserted-by":"crossref","first-page":"1116","DOI":"10.4161\/15384101.2014.985066","article-title":"Tctex1d2 associates with short-rib polydactyly syndrome proteins and is required for ciliogenesis","volume":"14","author":"Gholkar","year":"2015","journal-title":"Cell Cycle"},{"key":"ref_22","doi-asserted-by":"crossref","first-page":"880","DOI":"10.1038\/nrm2278","article-title":"When cilia go bad: Cilia defects and ciliopathies","volume":"8","author":"Fliegauf","year":"2007","journal-title":"Nat. Rev. Mol. Cell Biol."},{"key":"ref_23","doi-asserted-by":"crossref","first-page":"303","DOI":"10.1016\/S0070-2153(08)00811-9","article-title":"Cilia involvement in patterning and maintenance of the skeleton","volume":"85","author":"Haycraft","year":"2008","journal-title":"Curr. Top Dev. Biol."},{"key":"ref_24","doi-asserted-by":"crossref","first-page":"910","DOI":"10.1177\/0022034509345822","article-title":"Primary cilia of odontoblasts: Possible role in molar morphogenesis","volume":"88","author":"Couble","year":"2009","journal-title":"J. Dent. Res."},{"key":"ref_25","doi-asserted-by":"crossref","first-page":"416","DOI":"10.1002\/jez.b.21264","article-title":"Odontoblast: A mechano-sensory cell","volume":"312","author":"Magloire","year":"2009","journal-title":"J. Exp. Zool. B Mol. Dev. Evol."},{"key":"ref_26","first-page":"725","article-title":"Clinical evaluation of the dental hard tissues in an adult population with cystic fibrosis","volume":"129","year":"2019","journal-title":"Pol. Arch. Int. Med."},{"key":"ref_27","doi-asserted-by":"crossref","first-page":"296","DOI":"10.1016\/j.jdent.2009.12.001","article-title":"Systemic disorders and their influence on the development of dental hard tissues: A literature review","volume":"38","author":"Atar","year":"2010","journal-title":"J. Dent."},{"key":"ref_28","doi-asserted-by":"crossref","first-page":"45","DOI":"10.1007\/s00784-003-0245-0","article-title":"Regional odontodysplasia: A review of the literature and report of four cases","volume":"8","author":"Tervonen","year":"2004","journal-title":"Clin. Oral Investig."},{"key":"ref_29","doi-asserted-by":"crossref","first-page":"45","DOI":"10.1016\/S0145-2126(02)00080-2","article-title":"Dental abnormalities in children after chemotherapy treatment for acute lymphoid leukemia","volume":"27","author":"Minicucci","year":"2003","journal-title":"Leuk. Res."},{"key":"ref_30","doi-asserted-by":"crossref","first-page":"652","DOI":"10.1016\/j.ajodo.2010.09.036","article-title":"Arrested root formation of 4 s premolars: Report of a patient","volume":"141","author":"Pinzon","year":"2012","journal-title":"Am. J. Orthod. Dentofac. Orthop."}],"container-title":["International Journal of Environmental Research and Public Health"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/1660-4601\/17\/12\/4337\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,11]],"date-time":"2025-10-11T09:40:02Z","timestamp":1760175602000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/1660-4601\/17\/12\/4337"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,6,17]]},"references-count":30,"journal-issue":{"issue":"12","published-online":{"date-parts":[[2020,6]]}},"alternative-id":["ijerph17124337"],"URL":"https:\/\/doi.org\/10.3390\/ijerph17124337","relation":{},"ISSN":["1660-4601"],"issn-type":[{"value":"1660-4601","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020,6,17]]}}}