{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,24]],"date-time":"2026-09-24T15:01:38Z","timestamp":1790262098459,"version":"4.1.0"},"reference-count":12,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2026,7,3]],"date-time":"2026-07-03T00:00:00Z","timestamp":1783036800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0"},{"start":{"date-parts":[[2026,9,24]],"date-time":"2026-09-24T00:00:00Z","timestamp":1790208000000},"content-version":"vor","delay-in-days":83,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["82301933"],"award-info":[{"award-number":["82301933"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["J Med Case Reports"],"DOI":"10.1186\/s13256-026-06295-2","type":"journal-article","created":{"date-parts":[[2026,7,3]],"date-time":"2026-07-03T14:56:09Z","timestamp":1783090569000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Prenatal diagnosis of cranioectodermal dysplasia: a case report and review of the literature"],"prefix":"10.1186","volume":"20","author":[{"given":"Kai Xia","family":"Li","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0091-5094","authenticated-orcid":false,"given":"Xiao Yan","family":"Zhou","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2026,7,3]]},"reference":[{"issue":"3","key":"6295_CR1","doi-asserted-by":"publisher","first-page":"418","DOI":"10.1016\/j.ajhg.2010.08.004","volume":"87","author":"C Gilissen","year":"2010","unstructured":"Gilissen C, Arts HH, Hoischen A, Spruijt L, Mans DA, Arts P, et al. Exome sequencing identifies WDR35 variants involved in Sensenbrenner syndrome. Am J Hum Genet. 2010;87(3):418\u201323.","journal-title":"Am J Hum Genet"},{"issue":"1","key":"6295_CR2","doi-asserted-by":"publisher","first-page":"44","DOI":"10.1159\/000360857","volume":"82","author":"MH Guo","year":"2014","unstructured":"Guo MH, Shen Y, Walvoord EC, et al. Whole exome sequencing to identify genetic causes of short stature. Horm Res Paediatr. 2014;82(1):44\u201352.","journal-title":"Horm Res Paediatr"},{"issue":"1","key":"6295_CR3","doi-asserted-by":"publisher","first-page":"55","DOI":"10.1016\/S0022-3476(77)80764-6","volume":"90","author":"LS Levin","year":"1977","unstructured":"Levin LS, Perrin JC, Ose L, Dorst JP, Miller JD, Mckusick VA. A heritable syndrome of craniosynostosis, short thin hair, dental abnormalities, and short limbs: cranioectodermal dysplasia. J Pediatr. 1977;90(1):55\u201361.","journal-title":"J Pediatr"},{"issue":"2","key":"6295_CR4","first-page":"372","volume":"11","author":"JA Sensenbrenner","year":"1975","unstructured":"Sensenbrenner JA, Dorst JP, Owens RP. New syndrome of skeletal, dental and hair anomalies. Birth Defects Orig Artic Ser. 1975;11(2):372\u20139.","journal-title":"Birth Defects Orig Artic Ser"},{"issue":"1","key":"6295_CR5","doi-asserted-by":"publisher","DOI":"10.1186\/s12887-023-04110-1","volume":"23","author":"L Li","year":"2023","unstructured":"Li L, Liu C, Tian M, Li G, Li J. Novel compound heterozygous WDR35 variants in a Chinese patient associated with cranioectodermal dysplasia and ectopic testis: a case report and review of the literature. BMC Pediatr. 2023;23(1): 407.","journal-title":"BMC Pediatr"},{"issue":"4","key":"6295_CR6","doi-asserted-by":"publisher","first-page":"508","DOI":"10.1016\/j.ajhg.2011.03.015","volume":"88","author":"P Mill","year":"2011","unstructured":"Mill P, Lockhart PJ, Fitzpatrick E, Mountford HS, Hall EA, Reijns MAM, et al. Human and mouse mutations in WDR35 cause short-rib polydactyly syndromes due to abnormal ciliogenesis. Am J Hum Genet. 2011;88(4):508\u201315.","journal-title":"Am J Hum Genet"},{"issue":"1","key":"6295_CR7","doi-asserted-by":"publisher","first-page":"158","DOI":"10.1038\/pr.2013.200","volume":"75","author":"A Horani","year":"2014","unstructured":"Horani A, Brody SL, Ferkol TW. Picking up speed: advances in the genetics of primary ciliary dyskinesia. Pediatr Res. 2014;75(1):158\u201364.","journal-title":"Pediatr Res"},{"issue":"10","key":"6295_CR8","doi-asserted-by":"publisher","first-page":"2417","DOI":"10.1002\/ajmg.a.61785","volume":"182","author":"JW Sztulpa","year":"2020","unstructured":"Sztulpa JW, Wawrocka A, Leszczynska B, Mikulska B, Arts HH, Olech EB, 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\u201325.","journal-title":"Am J Med Genet A"},{"issue":"4","key":"6295_CR9","doi-asserted-by":"publisher","first-page":"376","DOI":"10.1002\/bdr2.1151","volume":"110","author":"J Walczak Sztulpa","year":"2018","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 biallelicWDR35 mutations. Birth Defects Res. 2018;110(4):376\u201381.","journal-title":"Birth Defects Res"},{"issue":"10","key":"6295_CR10","doi-asserted-by":"publisher","first-page":"3071","DOI":"10.1002\/ajmg.a.62903","volume":"188","author":"J Walczak Sztulpa","year":"2022","unstructured":"Walczak Sztulpa J, Wawrocka A, Sikora W, Pawlak M, Bukowska Olech E, Kopaczewski B, et al. WDR35 variants in a cranioectodermal dysplasia patient with early onset end-stage renal disease and retinal dystrophy. Am J Med Genet A. 2022;188(10):3071\u20137.","journal-title":"Am J Med Genet A"},{"issue":"1","key":"6295_CR11","doi-asserted-by":"publisher","first-page":"74","DOI":"10.1001\/jamapediatrics.2017.3938","volume":"172","author":"C Gimpel","year":"2018","unstructured":"Gimpel C, Avni FE, Bergmann C, Cetiner M, Habbig S, Haffner D, et al. Perinatal diagnosis, management, and follow-up of cystic renal diseases: a clinical practice recommendation with systematic literature reviews. JAMA Pediatr. 2018;172(1):74\u201386.","journal-title":"JAMA Pediatr"},{"issue":"7","key":"6295_CR12","doi-asserted-by":"publisher","first-page":"427","DOI":"10.1038\/s10038-022-01020-5","volume":"67","author":"N Sakakibara","year":"2022","unstructured":"Sakakibara N, Nozu K, Yamamura T, Horinouchi T, Nagano C, Ye MJ, et al. Comprehensive genetic analysis using next-generation sequencing for the diagnosis of nephronophthisis-related ciliopathies in the Japanese population. J Hum Genet. 2022;67(7):427\u201340.","journal-title":"J Hum Genet"}],"container-title":["Journal of Medical Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/article\/10.1186\/s13256-026-06295-2","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s13256-026-06295-2.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s13256-026-06295-2.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,9,24]],"date-time":"2026-09-24T14:03:56Z","timestamp":1790258636000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1186\/s13256-026-06295-2"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,7,3]]},"references-count":12,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2026,12]]}},"alternative-id":["6295"],"URL":"https:\/\/doi.org\/10.1186\/s13256-026-06295-2","relation":{},"ISSN":["1752-1947"],"issn-type":[{"value":"1752-1947","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,7,3]]},"assertion":[{"value":"16 February 2025","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"12 June 2026","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"3 July 2026","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"Written informed consent was obtained from the patient for participation in this study. This study was conducted in accordance with the Declaration of Helsinki (1975, revised in 2013) and was approved by the Ethics Committee of the University of Nanjing Medical University (approval code: 20250312).","order":1,"name":"Ethics","label":"Ethics approval and consent to participate","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"Written informed consent was obtained from the patient for the publication of this case report and any accompanying images. A copy of the written consent is available for review by the Editor-in-Chief of this journal.","order":2,"name":"Ethics","label":"Consent for publication","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"The authors declare that they have no competing interests concerning this case report.","order":3,"name":"Ethics","label":"Competing interests","group":{"name":"EthicsHeading","label":"Declarations"}}],"article-number":"572"}}