{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,27]],"date-time":"2026-04-27T22:32:44Z","timestamp":1777329164055,"version":"3.51.4"},"reference-count":18,"publisher":"Walter de Gruyter GmbH","issue":"2","license":[{"start":{"date-parts":[[2021,11,1]],"date-time":"2021-11-01T00:00:00Z","timestamp":1635724800000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2021,11,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Multiple renal cysts in adult patients could have asymptomatic, benign and a nonprogressive course. However, these cysts could be renal features of a very rare hereditary, progressive syndrome defined as cranioectodermal dysplasia (CED or Sensenbrenner syndrome). Affected patients show dysmorphic features such as craniosynostosis, nail dystrophy, cutaneous dyshydrosis, dry or scaly palmar skin, trichodysplasia, deafness, pectus excavatum, telecanthus, hypertelorism, low set ears, everted lower lip, anteverted nares, short neck and height, joint laxity, inguinal hernia, widely spaced teeth, microdontia, hypodontia in addition to nephronophthisis. We report a 22-year-old male hypertensive patient with multiple renal cysts and dental malformations listed as malocclusion, screwdriver shaped crowns, widely spaced front teeth, microdontia and hyperdontia. Molecular analysis reported missense p.(Ala875Thr) and p.(Lys969Asn) variants in the\n                    <jats:italic>WDR35<\/jats:italic>\n                    gene. The 1-year follow-up of this case provided the knowledge that angiotensin II receptor blocker drug (olmesartan) reduced the microalbuminuria to normal levels and preserved the renal functions. We suggest interdisciplinary studies, especially intraoral and genetic evaluations for patients with cystic renal diseases. For the first time we report that hyperdontia could be found as a dental feature of CED.\n                  <\/jats:p>","DOI":"10.2478\/bjmg-2021-0016","type":"journal-article","created":{"date-parts":[[2022,6,4]],"date-time":"2022-06-04T17:06:56Z","timestamp":1654362416000},"page":"83-87","source":"Crossref","is-referenced-by-count":1,"title":["Having Multiple Renal Cysts in a Young Adult is Not Always a Sign of Polycystic Kidney Disease"],"prefix":"10.2478","volume":"24","author":[{"given":"K","family":"Kaynar","sequence":"first","affiliation":[{"name":"Department of Nephrology, Faculty of Medicine , Karadeniz Technical University , Trabzon , Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S","family":"Kay\u0131pmaz","sequence":"additional","affiliation":[{"name":"Department of Oral Diagnosis and Radiology, Faculty of Dentistry , Karadeniz Technical University , Trabzon , Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"AH","family":"\u00c7ebi","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Faculty of Medicine , Karadeniz Technical University , Trabzon , Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"\u015e","family":"H\u00fcseynova","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine, Faculty of Medicine , Karadeniz Technical University , Trabzon , Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"374","published-online":{"date-parts":[[2022,6,5]]},"reference":[{"key":"2026042716343635856_j_bjmg-2021-0016_ref_001","unstructured":"Kruskal JB, Richie JP. Simple and complex renal cysts in adults. UpToDate. 2021. Available at https:\/\/www.uptodate.com\/contents\/simple-and-complex-renal-cysts-in-adults; date accessed: June 3 2021."},{"key":"2026042716343635856_j_bjmg-2021-0016_ref_002","doi-asserted-by":"crossref","unstructured":"Walczak-Sztulpa J, Wawrocka A, Swiader-Lesniak A, Socha M, Jamsheer A, Drozdz D, et al. Clinical and molecular genetic characterization of a male patient with Sensenbrenner syndrome (cranioectodermal dysplasia) and biallelic WDR35 mutations. Birth Defects Res. 2018; 110(4): 376\u2013381.","DOI":"10.1002\/bdr2.1151"},{"key":"2026042716343635856_j_bjmg-2021-0016_ref_003","unstructured":"Basile J, Bloch MJ. Overview of hypertension in adults. UpToDate. 2021. Available at https:\/\/www.uptodate.com\/contents\/search?search=overview-of-hypertension-in-adults; date accessed June 3 2021."},{"key":"2026042716343635856_j_bjmg-2021-0016_ref_004","unstructured":"O\u2019Neill MJF. OMIM.org: Online Mendelian Inheritance in Man (OMIM\u00ae), an online catalog of human genes and genetic disorders, updated: February 6 2018; available at https:\/\/mirror.omim.org\/."},{"key":"2026042716343635856_j_bjmg-2021-0016_ref_005","unstructured":"Ozcan T. Prenatal sonographic diagnosis of cystic renal disease. UpToDate. 2021. Available at: https:\/\/www.uptodate.com\/contents\/prenatal-sonographic-diagnosis-of-cystic-renal-disease; date accessed: June 3 2021."},{"key":"2026042716343635856_j_bjmg-2021-0016_ref_006","doi-asserted-by":"crossref","unstructured":"Chen X, Garcelon N, Neuraz A, Billot K, Lelarge M, Bonald T, et al. Phenotyping similarity for rare disease: Ciliopathy diagnoses and subtyping. J Biomed Inform. 2019; 100: 103308.","DOI":"10.1016\/j.jbi.2019.103308"},{"key":"2026042716343635856_j_bjmg-2021-0016_ref_007","unstructured":"Torres VE, Bennett WM. Autosomal dominant kidney disease (ADPKD) in adults: Epidemiology, clinical presentation; and diagnosis. UpToDate. 2021. Available at: https:\/\/www.uptodate.com\/contents\/autosomal-dominant-polycystic-kidney-disease-adpkd-in-adults-epidemiology-clinical-presentation-and-diagnosis; date accessed: June 3 2021."},{"key":"2026042716343635856_j_bjmg-2021-0016_ref_008","doi-asserted-by":"crossref","unstructured":"BergMann C, Guay-Woodford LM, Harris PC, Horie S, Peters DJM, Torres VE. Polycystic kidney disease. Nat Rev Dis Primers. 2018; 4(1): 50.","DOI":"10.1038\/s41572-018-0047-y"},{"key":"2026042716343635856_j_bjmg-2021-0016_ref_009","doi-asserted-by":"crossref","unstructured":"Walczak-Sztulpa J, Wawrocka A, Leszczynska B, Mukulska B, Arts HH, Bukowska-Olech E, et al. Prenatal genetic diagnosis of cranioectodermal dysplasia in a Polish family with compound heterozygous variants in WDR35. Am J Med Genet A. 2020; 182(10: 2417\u20132425.","DOI":"10.1002\/ajmg.a.61785"},{"key":"2026042716343635856_j_bjmg-2021-0016_ref_010","unstructured":"Tan W, Lin A, Keppler-Noreuil K. Cranioectodermal Dysplasia. September 12 2013 [updated March 11 2021]. In: Adam MP, Ardinger HH, Pagon RA, et al., Editors. GeneReviews\u00ae. Seattle, WA, USA: University of Washington; 1993\u20132020. Available at: https:www.ncbi.nlm.nih.gov\/books\/NBK154635\/."},{"key":"2026042716343635856_j_bjmg-2021-0016_ref_011","doi-asserted-by":"crossref","unstructured":"Alazami AM, Seidahmed MZ, Alzahrani F, Mohammed AO, Alkuraya FS. Novel IFT122 mutation associated with impaired ciliogenesis and cranioectodermal dysplasia. Mol Genet Genomic Med. 2014; 2(2): 103\u2013106.","DOI":"10.1002\/mgg3.44"},{"key":"2026042716343635856_j_bjmg-2021-0016_ref_012","doi-asserted-by":"crossref","unstructured":"Shifman A, Chanannel I. Prevalence of taurodontism found in radiographic dental examination of 1,200 young adult Israeli patients. 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