{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,23]],"date-time":"2026-03-23T14:43:16Z","timestamp":1774276996019,"version":"3.50.1"},"reference-count":41,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2022,10,31]],"date-time":"2022-10-31T00:00:00Z","timestamp":1667174400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Genet."],"abstract":"<jats:p>Ectrodactyly\u2013ectodermal dysplasia\u2013cleft (EEC) syndrome is an autosomal dominant disorder characterized by ectrodactyly, ectodermal dysplasia, and orofacial clefting. Reduced penetrance is manifested in these core features and additional under-recognized features, especially in prenatal cases. Here, we present a fetus with EEC syndrome at 22\u00a0weeks gestation, in which the cleft lip and palate and the right polycystic kidney are shown by prenatal ultrasound. A <jats:italic>de novo<\/jats:italic> missense mutation of R304W in the <jats:italic>TP63<\/jats:italic> gene is confirmed by whole-exome sequencing associated with EEC syndrome. We further investigate the reported <jats:italic>TP63<\/jats:italic>-related prenatal cases and provide a more complete picture of the prenatal phenotypic spectrum about EEC. It illustrates the potential severity of genitourinary anomalies in <jats:italic>TP63<\/jats:italic>-related disorders and highlights the need to counsel for the possibility of EEC syndrome, given the occurrence of genitourinary anomalies with orofacial cleft or limb deformities.<\/jats:p>","DOI":"10.3389\/fgene.2022.1002089","type":"journal-article","created":{"date-parts":[[2022,10,31]],"date-time":"2022-10-31T06:03:45Z","timestamp":1667196225000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":9,"title":["Case report: Prenatal diagnosis of Ectrodactyly\u2013Ectodermal dysplasia\u2013Cleft syndrome (EEC) in a fetus with cleft lip and polycystic kidney"],"prefix":"10.3389","volume":"13","author":[{"given":"He","family":"Biwei","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Su","family":"Min","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wang","family":"Yanlin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zhao","family":"Xinrong","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gao","family":"Li","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hua","family":"Renyi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sun","family":"Jinling","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wang","family":"Shan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wu","family":"Yi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cheng","family":"Weiwei","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1965","published-online":{"date-parts":[[2022,10,31]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","first-page":"559","DOI":"10.1136\/jmg.39.8.559","article-title":"Analysis of the p63 gene in classical EEC syndrome, related syndromes, and non-syndromic orofacial clefts","volume":"39","author":"Barrow","year":"2002","journal-title":"J. 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