{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,16]],"date-time":"2026-10-16T16:03:27Z","timestamp":1792166607962,"version":"4.4.0"},"reference-count":10,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2014,6,11]],"date-time":"2014-06-11T00:00:00Z","timestamp":1402444800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Prenatal Diagnosis"],"published-print":{"date-parts":[[2014,10]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:p>Hypochondroplasia (HCH) is a genetic skeletal dysplasia, inherited in an autosomal dominant fashion. About 50\u201370% of HCH patients have a mutation in FGFR3 gene and in the majority of cases it is a de novo mutation. Recent magnetic resonance imaging studies on relative large cohorts of HCH patients have showed a central nervous system involvement with a high incidence of characteristic temporal lobe and hippocampal abnormalities. To the best of our knowledge, this report shows the first magnetic resonance imaging prenatal detection of characteristic brain anomalies in a case of HCH, molecularly confirmed through postnatal FGFR3 analysis. \u00a9 2014 John Wiley &amp; Sons, Ltd.<\/jats:p>","DOI":"10.1002\/pd.4415","type":"journal-article","created":{"date-parts":[[2014,5,19]],"date-time":"2014-05-19T02:28:39Z","timestamp":1400466519000},"page":"1015-1017","source":"Crossref","is-referenced-by-count":10,"title":["Prenatal magnetic resonance imaging detection of temporal lobes and hippocampal anomalies in hypochondroplasia"],"prefix":"10.1002","volume":"34","author":[{"given":"Claudia","family":"Cesaretti","sequence":"first","affiliation":[{"name":"Radiology and Neuroradiology Department Children's Hospital V. Buzzi  Milan Italy"},{"name":"Medical Genetics Unit, Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico  Milan Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Luigina","family":"Spaccini","sequence":"additional","affiliation":[{"name":"Obstetrics and Gynecology Department Children's Hospital V. Buzzi  Milan Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mariangela","family":"Rustico","sequence":"additional","affiliation":[{"name":"Obstetrics and Gynecology Department Children's Hospital V. Buzzi  Milan Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cecilia","family":"Parazzini","sequence":"additional","affiliation":[{"name":"Radiology and Neuroradiology Department Children's Hospital V. Buzzi  Milan Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chiara","family":"Doneda","sequence":"additional","affiliation":[{"name":"Radiology and Neuroradiology Department Children's Hospital V. Buzzi  Milan Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thomas J.","family":"Re","sequence":"additional","affiliation":[{"name":"Radiology Institute University of Milan  Milan Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrea","family":"Righini","sequence":"additional","affiliation":[{"name":"Radiology and Neuroradiology Department Children's Hospital V. Buzzi  Milan Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2014,6,11]]},"reference":[{"key":"e_1_2_2_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.10171"},{"key":"e_1_2_2_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30974"},{"key":"e_1_2_2_4_1","doi-asserted-by":"publisher","DOI":"10.1177\/0883073807300292"},{"key":"e_1_2_2_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.35642"},{"key":"e_1_2_2_6_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00247-013-2684-3"},{"key":"e_1_2_2_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19991126)87:3<226::AID-AJMG6>3.0.CO;2-S"},{"key":"e_1_2_2_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320360407"},{"key":"e_1_2_2_9_1","doi-asserted-by":"publisher","DOI":"10.2214\/AJR.11.6662"},{"key":"e_1_2_2_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/dvdy.22636"},{"key":"e_1_2_2_11_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00401-005-1059-8"}],"container-title":["Prenatal Diagnosis"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fpd.4415","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/pd.4415","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,5]],"date-time":"2023-10-05T13:43:41Z","timestamp":1696513421000},"score":1,"resource":{"primary":{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/10.1002\/pd.4415"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,6,11]]},"references-count":10,"journal-issue":{"issue":"10","published-print":{"date-parts":[[2014,10]]}},"alternative-id":["10.1002\/pd.4415"],"URL":"https:\/\/doi.org\/10.1002\/pd.4415","archive":["Portico"],"relation":{},"ISSN":["0197-3851","1097-0223"],"issn-type":[{"value":"0197-3851","type":"print"},{"value":"1097-0223","type":"electronic"}],"subject":[],"published":{"date-parts":[[2014,6,11]]}}}