{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,21]],"date-time":"2025-11-21T18:16:46Z","timestamp":1763749006051,"version":"3.40.5"},"reference-count":38,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2023,9,4]],"date-time":"2023-09-04T00:00:00Z","timestamp":1693785600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["J of Clinical Ultrasound"],"published-print":{"date-parts":[[2023,10]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Objective<\/jats:title><jats:p>Prenatal diagnosis of the Ectrodactyly\u2010Ectodermal dysplasia\u2010clefting (EEC) syndrome has been based upon the detection of ectrodactyly, in association with facial clefting and\/or positive family history. Our aim is to describe other ultrasonographic features indicating the presuntive diagnosis, regardless of genetic diagnosis, especially in cases of negative family history.<\/jats:p><\/jats:sec><jats:sec><jats:title>Materials and Methods<\/jats:title><jats:p>A case report and a review of the literature was assessed.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Our case report showed a singleton foetus \u201c<jats:italic>lobster claw<\/jats:italic>\u201d deformities of hands and feet. Paternal history revealed bilateral agenesia of two fingers. Through literature, 15 case reports of prenatal diagnosis of EEC syndrome were found, 14 of which were eligible for our systematic review.<\/jats:p><jats:p>The 33% of cases (5\/15) had a familiar history of EEC, thus, we found one case of consanguinity of parents. Anomalies EEC\u2010related were recognized in the 40% of cases (6\/15). An association with genitourinary anomalies was found in 30% (5\/15) of them.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>A strong suspicion of final diagnosis of EEC may be done in the presence of ectrodactyly, facial clefting and urinary malformation especially in cases of negative family history. More attention should be given to a genetic counseling, especially to understand a possible relation to other genetic syndromes.<\/jats:p><\/jats:sec>","DOI":"10.1002\/jcu.23549","type":"journal-article","created":{"date-parts":[[2023,9,4]],"date-time":"2023-09-04T13:19:48Z","timestamp":1693833588000},"page":"1348-1355","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["<scp>Ectrodactyly\u2010ectodermal dysplasia\u2010clefting<\/scp> syndrome. Prenatal prospective ultrasound diagnosis"],"prefix":"10.1002","volume":"51","author":[{"given":"Giuliana","family":"Orlandi","sequence":"first","affiliation":[{"name":"Gynecology and Obstetrics Unit, Department of Public Health, School of Medicine University of Naples Federico II  Naples Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8893-454X","authenticated-orcid":false,"given":"Raffaella","family":"Di Girolamo","sequence":"additional","affiliation":[{"name":"Gynecology and Obstetrics Unit, Department of Public Health, School of Medicine University of Naples Federico II  Naples Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2127-1876","authenticated-orcid":false,"given":"Luigi","family":"Carbone","sequence":"additional","affiliation":[{"name":"Gynecology and Obstetrics Unit, Department of Neuroscience, Reproductive Sciences and Dentistry, School of Medicine University of Naples Federico II  Naples Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Laura","family":"Sarno","sequence":"additional","affiliation":[{"name":"Gynecology and Obstetrics Unit, Department of Neuroscience, Reproductive Sciences and Dentistry, School of Medicine University of Naples Federico II  Naples Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Antonia","family":"Maresca","sequence":"additional","affiliation":[{"name":"Gynecology and Obstetrics Unit, Department of Public Health, School of Medicine University of Naples Federico II  Naples Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Caterina","family":"Fulgione","sequence":"additional","affiliation":[{"name":"Gynecology and Obstetrics Unit, Department of Public Health, School of Medicine University of Naples Federico II  Naples Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Laura Letizia","family":"Mazzarelli","sequence":"additional","affiliation":[{"name":"Gynecology and Obstetrics Unit, Department of Public Health, School of Medicine University of Naples Federico II  Naples Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Francesco","family":"D'antonio","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology, Center for Fetal Care and High\u2010Risk Pregnancy University of Chieti  Chieti Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ilenia","family":"Mappa","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology, Fondazione Policlinico Tor Vergata University of Rome \u201cTor Vergata\u201d  Rome Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria Elena","family":"Pietrolucci","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology, Fondazione Policlinico Tor Vergata University of Rome \u201cTor Vergata\u201d  Rome Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Giuseppe","family":"Rizzo","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology, Fondazione Policlinico Tor Vergata University of Rome \u201cTor Vergata\u201d  Rome Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Giuseppe Maria","family":"Maruotti","sequence":"additional","affiliation":[{"name":"Gynecology and Obstetrics Unit, Department of Public Health, School of Medicine University of Naples Federico II  Naples Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2023,9,4]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.7547\/87507315-90-9-460"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.39.8.559"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.1136\/adc.71.1.1"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.11604\/pamj.2021.40.80.2600"},{"key":"e_1_2_10_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.clp.2018.07.006"},{"key":"e_1_2_10_7_1","doi-asserted-by":"publisher","DOI":"10.4161\/cc.6.3.3796"},{"key":"e_1_2_10_8_1","unstructured":"SuttonVR vanBokhovenH.TP63\u2010related disorders. 2010 Jun 8 [updated 2021 Apr 1]."},{"key":"e_1_2_10_9_1","unstructured":"AdamMP MirzaaGM PagonRA et al.GeneReviews\u00ae [Internet]. Seattle (WA): University of Washington Seattle.1993\u20132023."},{"key":"e_1_2_10_10_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1991.tb03093.x"},{"key":"e_1_2_10_11_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.39.6.377"},{"key":"e_1_2_10_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jobcr.2014.08.002"},{"key":"e_1_2_10_13_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41419\u2010021\u201003902\u20106"},{"key":"e_1_2_10_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbrc.2022.04.022"},{"key":"e_1_2_10_15_1","doi-asserted-by":"publisher","DOI":"10.1136\/bmjebm\u20102017\u2010110853"},{"key":"e_1_2_10_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/s0140\u20106736(80)90266\u20104"},{"key":"e_1_2_10_17_1","doi-asserted-by":"publisher","DOI":"10.7863\/jum.1989.8.6.337"},{"key":"e_1_2_10_18_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.1970130614"},{"key":"e_1_2_10_19_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1469-0705.1997.09030194.x"},{"key":"e_1_2_10_20_1","doi-asserted-by":"publisher","DOI":"10.1055\/s\u20100036\u20101579653"},{"key":"e_1_2_10_21_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.1101"},{"key":"e_1_2_10_22_1","doi-asserted-by":"publisher","DOI":"10.7863\/jum.2008.27.1.149"},{"key":"e_1_2_10_23_1","doi-asserted-by":"publisher","DOI":"10.1055\/s\u20100029\u20101220169"},{"issue":"7","key":"e_1_2_10_24_1","first-page":"490","article-title":"Ectrodactilia: detecci\u00f3n ecogr\u00e1fica a las 12 semanas [Split hand\u2010foot: sonographic detection at 12\u2009weeks]","volume":"82","author":"Gonz\u00e1lez\u2010Ballano I","year":"2014","journal-title":"Ginecol Obstet Mex"},{"key":"e_1_2_10_25_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejogrb.2017.04.012"},{"key":"e_1_2_10_26_1","doi-asserted-by":"publisher","DOI":"10.1080\/14767050500072839"},{"key":"e_1_2_10_27_1","doi-asserted-by":"publisher","DOI":"10.1002\/mgg3.1486"},{"key":"e_1_2_10_28_1","doi-asserted-by":"publisher","DOI":"10.3389\/fgene.2022.1002089"},{"key":"e_1_2_10_29_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13052\u2010021\u201001152\u2010y"},{"key":"e_1_2_10_30_1","doi-asserted-by":"publisher","DOI":"10.5858\/134.4.554"},{"volume-title":"Embryology, Kidney, Bladder, and Ureter. 2022 Aug 8. In: StatPearls [Internet]","year":"2023","author":"Rehman S","key":"e_1_2_10_31_1"},{"key":"e_1_2_10_32_1","doi-asserted-by":"publisher","DOI":"10.5858\/arpa.2013\u20100660\u2010RS"},{"key":"e_1_2_10_33_1","doi-asserted-by":"publisher","DOI":"10.1080\/14767058.2023.2193285"},{"key":"e_1_2_10_34_1","doi-asserted-by":"publisher","DOI":"10.1002\/jcu.23191"},{"key":"e_1_2_10_35_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.6389"},{"key":"e_1_2_10_36_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.6360"},{"key":"e_1_2_10_37_1","doi-asserted-by":"publisher","DOI":"10.3390\/genes12010015"},{"key":"e_1_2_10_38_1","doi-asserted-by":"publisher","DOI":"10.1002\/uog.17487"},{"key":"e_1_2_10_39_1","doi-asserted-by":"publisher","DOI":"10.1111\/1471\u20100528.14604"}],"container-title":["Journal of Clinical Ultrasound"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/jcu.23549","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,12]],"date-time":"2023-10-12T04:33:24Z","timestamp":1697085204000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/jcu.23549"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,9,4]]},"references-count":38,"journal-issue":{"issue":"8","published-print":{"date-parts":[[2023,10]]}},"alternative-id":["10.1002\/jcu.23549"],"URL":"https:\/\/doi.org\/10.1002\/jcu.23549","archive":["Portico"],"relation":{},"ISSN":["0091-2751","1097-0096"],"issn-type":[{"type":"print","value":"0091-2751"},{"type":"electronic","value":"1097-0096"}],"subject":[],"published":{"date-parts":[[2023,9,4]]},"assertion":[{"value":"2023-07-11","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-08-14","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-09-04","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}