{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,5]],"date-time":"2026-05-05T03:41:53Z","timestamp":1777952513871,"version":"3.51.4"},"reference-count":37,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2014,10,23]],"date-time":"2014-10-23T00:00:00Z","timestamp":1414022400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Congenital Anomalies"],"published-print":{"date-parts":[[2014,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Prenatal diagnosis of thanatophoric dysplasia (<jats:styled-content style=\"fixed-case\">TD<\/jats:styled-content>) type<jats:styled-content style=\"fixed-case\">II<\/jats:styled-content>presenting in the first trimester with increased nuchal translucency (<jats:styled-content style=\"fixed-case\">NT<\/jats:styled-content>) and cloverleaf skull (<jats:styled-content style=\"fixed-case\">K<\/jats:styled-content>leeblattschaedel) have been scantly reported in the medical record. Abnormal choroid plexus has been seen in association with fetal anomalies. Here we described a case of increased<jats:styled-content style=\"fixed-case\">NT<\/jats:styled-content>associated with indented choroid plexuses, early onset hydrocephalus and cloverleaf skull in a fetus subsequently diagnosed at early second trimester to carry a<jats:italic>de novo<\/jats:italic>mutation encoding for<jats:styled-content style=\"fixed-case\">TD<\/jats:styled-content>type<jats:styled-content style=\"fixed-case\">II<\/jats:styled-content>. The findings of dysmorphic choroid plexus, early onset hydrocephalus and cloverleaf skull at first trimester scan may be early, useful ultrasound markers of<jats:styled-content style=\"fixed-case\">TD<\/jats:styled-content>type<jats:styled-content style=\"fixed-case\">II<\/jats:styled-content>. Molecular analysis to control for possible overlapping syndromes were performed and resulted negative. Postmortem<jats:styled-content style=\"fixed-case\">X<\/jats:styled-content>\u2010ray and<jats:styled-content style=\"fixed-case\">3D<\/jats:styled-content>\u2010<jats:styled-content style=\"fixed-case\">CT<\/jats:styled-content>scan confirmed the cloverleaf skull, narrow thorax, straight femur with rhizomelic shortening of the limbs and the presence of a communicating hydrocephalus.<\/jats:p>","DOI":"10.1111\/cga.12056","type":"journal-article","created":{"date-parts":[[2014,2,12]],"date-time":"2014-02-12T11:27:27Z","timestamp":1392204447000},"page":"228-232","source":"Crossref","is-referenced-by-count":4,"title":["Dysmorphic choroid plexuses and hydrocephalus associated with increased nuchal translucency: Early ultrasound markers of<i>de novo<\/i>thanatophoric dysplasia type<scp>II<\/scp>with cloverleaf skull (<scp>K<\/scp>leeblattschaedel)"],"prefix":"10.1111","volume":"54","author":[{"given":"Gabriele","family":"Tonni","sequence":"first","affiliation":[{"name":"Department of Obstetrics &amp; Gynecology AUSL Reggio Emilia Guastalla Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marcella","family":"Palmisano","sequence":"additional","affiliation":[{"name":"Department of Obstetrics &amp; Gynecology AUSL Reggio Emilia Guastalla Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Vladimiro","family":"Ginocchi","sequence":"additional","affiliation":[{"name":"Radiology Service Guastalla Civil Hospital AUSL Reggio Emilia Guastalla Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alessandro","family":"Ventura","sequence":"additional","affiliation":[{"name":"Department of Obstetrics &amp; Gynecology AUSL Reggio Emilia Guastalla Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maurizia","family":"Baldi","sequence":"additional","affiliation":[{"name":"Human Genetic Laboratory IRCCS Galliera Hospital Genoa Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ave Maria","family":"Baffico","sequence":"additional","affiliation":[{"name":"Human Genetic Laboratory IRCCS Galliera Hospital Genoa Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2014,10,23]]},"reference":[{"key":"e_1_2_4_2_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1998.tb03756.x"},{"key":"e_1_2_4_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0795-357"},{"key":"e_1_2_4_4_1","first-page":"777","article-title":"First trimester diagnosis of fetal abnormalities. 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