{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,26]],"date-time":"2026-09-26T23:29:01Z","timestamp":1790465341124,"version":"4.1.0"},"reference-count":62,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2012,12,5]],"date-time":"2012-12-05T00:00:00Z","timestamp":1354665600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Developmental Dynamics"],"published-print":{"date-parts":[[2013,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p><jats:styled-content>BACKGROUND:<\/jats:styled-content> The role of fibroblast growth factor and receptor (FGF\/FGFR) signaling in bone development is well studied, partly because mutations in FGFRs cause human diseases of achondroplasia and FGFR\u2010related craniosynostosis syndromes including Crouzon syndrome. The FGFR2c C342Y mutation is a frequent cause of Crouzon syndrome, characterized by premature cranial vault suture closure, midfacial deficiency, and neurocranial dysmorphology. Here, using newborn <jats:italic>Fgfr2c<\/jats:italic><jats:sup><jats:italic>C342Y<\/jats:italic>\/+<\/jats:sup> Crouzon syndrome mice, we tested whether the phenotypic effects of this mutation go beyond the skeletal tissues of the skull, altering the development of other non\u2010skeletal head tissues including the brain, the eyes, the nasopharynx, and the inner ears. <jats:styled-content>RESULTS:<\/jats:styled-content> Quantitative analysis of 3D multimodal imaging (high\u2010resolution micro\u2010computed tomography and magnetic resonance microscopy) revealed local differences in skull morphology and coronal suture patency between <jats:italic>Fgfr2c<\/jats:italic><jats:sup><jats:italic>C342Y<\/jats:italic>\/+<\/jats:sup> mice and unaffected littermates, as well as changes in brain shape but not brain size, significant reductions in nasopharyngeal and eye volumes, and no difference in inner ear volume in <jats:italic>Fgfr2c<\/jats:italic><jats:sup><jats:italic>C342Y<\/jats:italic>\/+<\/jats:sup> mice. <jats:styled-content>CONCLUSIONS:<\/jats:styled-content> These findings provide an expanded catalogue of clinical phenotypes in Crouzon syndrome caused by aberrant FGF\/FGFR signaling and evidence of the broad role for FGF\/FGFR signaling in development and evolution of the vertebrate head. Developmental Dynamics 242:80\u201394, 2013. \u00a9 2012 Wiley Periodicals, Inc.<\/jats:p>","DOI":"10.1002\/dvdy.23903","type":"journal-article","created":{"date-parts":[[2012,11,21]],"date-time":"2012-11-21T13:04:45Z","timestamp":1353503085000},"page":"80-94","source":"Crossref","is-referenced-by-count":52,"title":["Tissue\u2010specific responses to aberrant FGF signaling in complex head phenotypes"],"prefix":"10.1002","volume":"242","author":[{"given":"Neus","family":"Mart\u00ednez\u2010Abad\u00edas","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Susan M.","family":"Motch","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Talia L.","family":"Pankratz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yingli","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kristina","family":"Aldridge","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ethylin Wang","family":"Jabs","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joan T.","family":"Richtsmeier","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2012,12,5]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1242\/dev.002709"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30959"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/dvdy.22218"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.1014235108"},{"key":"e_1_2_7_6_1","first-page":"361","volume-title":"Craniosynostosis: diagnosis, evaluation, and management","author":"Cohen MM","year":"2000"},{"key":"e_1_2_7_7_1","volume-title":"Windows\u2010based software for euclidean distance matrix analysis","author":"Cole T","year":"2002"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/0165-5876(81)90059-8"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1242\/dev.01444"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1093\/biomet\/72.2.241"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1001\/archoto.2011.115"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/jcb.22629"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1098\/rspb.2007.1169"},{"key":"e_1_2_7_14_1","volume-title":"Statistical shape analysis","author":"Dryden I","year":"1998"},{"key":"e_1_2_7_15_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0405031101"},{"key":"e_1_2_7_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cytogfr.2005.01.001"},{"key":"e_1_2_7_17_1","doi-asserted-by":"publisher","DOI":"10.1615\/CritRevEukarGeneExpr.v20.i4.20"},{"key":"e_1_2_7_18_1","doi-asserted-by":"publisher","DOI":"10.3389\/fnins.2011.00133"},{"key":"e_1_2_7_19_1","article-title":"Growth of the skull and brain differ postnatally in a mouse odel for Apert syndrome","author":"Hill C","year":"2012","journal-title":"Am J Med Genet"},{"key":"e_1_2_7_20_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pbio.1001231"},{"key":"e_1_2_7_21_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.tig.2004.08.007"},{"key":"e_1_2_7_22_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2010.235"},{"key":"e_1_2_7_23_1","volume-title":"Faculy of Life Sciences","author":"Klingenberg C","year":"2008"},{"key":"e_1_2_7_24_1","doi-asserted-by":"publisher","DOI":"10.1198\/016214502388618609"},{"key":"e_1_2_7_25_1","doi-asserted-by":"publisher","DOI":"10.1201\/9781420036176"},{"key":"e_1_2_7_26_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0026425"},{"key":"e_1_2_7_27_1","doi-asserted-by":"publisher","DOI":"10.1002\/dvdy.22414"},{"key":"e_1_2_7_28_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ydbio.2008.07.016"},{"key":"e_1_2_7_29_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bjps.2010.01.029"},{"key":"e_1_2_7_30_1","doi-asserted-by":"publisher","DOI":"10.1097\/00001665-200409000-00035"},{"key":"e_1_2_7_31_1","doi-asserted-by":"publisher","DOI":"10.1016\/0007-1226(93)90039-E"},{"key":"e_1_2_7_32_1","doi-asserted-by":"publisher","DOI":"10.1159\/000141479"},{"key":"e_1_2_7_33_1","first-page":"85","volume-title":"Vistas in orthodontics","author":"Moss M","year":"1962"},{"key":"e_1_2_7_34_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.270.44.26037"},{"key":"e_1_2_7_35_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1469-7580.2005.00473.x"},{"key":"e_1_2_7_36_1","doi-asserted-by":"publisher","DOI":"10.1186\/gb-2001-2-3-reviews3005"},{"key":"e_1_2_7_37_1","doi-asserted-by":"publisher","DOI":"10.1101\/gad.990702"},{"key":"e_1_2_7_38_1","doi-asserted-by":"publisher","DOI":"10.1006\/dbio.1993.1205"},{"key":"e_1_2_7_39_1","doi-asserted-by":"publisher","DOI":"10.1097\/00005537-199909000-00002"},{"key":"e_1_2_7_40_1","doi-asserted-by":"publisher","DOI":"10.1597\/1545-1569(1997)034<0135:AMICWC>2.3.CO;2"},{"key":"e_1_2_7_41_1","doi-asserted-by":"publisher","DOI":"10.1597\/05-212"},{"key":"e_1_2_7_42_1","first-page":"394","article-title":"Palatal anomalies in the syndromes of Apert and Crouzon","volume":"11","author":"Peterson SJ","year":"1974","journal-title":"Cleft Palate J"},{"key":"e_1_2_7_43_1","first-page":"237","article-title":"Nasopharyngeal dysmorphology in the syndromes of Apert and Crouzon","volume":"18","author":"Peterson\u2010Falzone SJ","year":"1981","journal-title":"Cleft Palate J"},{"key":"e_1_2_7_44_1","doi-asserted-by":"publisher","DOI":"10.1002\/bies.20261"},{"key":"e_1_2_7_45_1","doi-asserted-by":"publisher","DOI":"10.1097\/00001665-199509000-00016"},{"key":"e_1_2_7_46_1","doi-asserted-by":"publisher","DOI":"10.1097\/SCS.0b013e3181f6f82c"},{"key":"e_1_2_7_47_1","doi-asserted-by":"publisher","DOI":"10.1597\/1545-1569(1995)032<0217:PRAVOT>2.3.CO;2"},{"key":"e_1_2_7_48_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajpa.10174"},{"key":"e_1_2_7_49_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0607956104"},{"key":"e_1_2_7_50_1","doi-asserted-by":"publisher","DOI":"10.2307\/2992207"},{"key":"e_1_2_7_51_1","doi-asserted-by":"publisher","DOI":"10.2307\/2992207"},{"key":"e_1_2_7_52_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0295-173"},{"key":"e_1_2_7_53_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0165-5876(02)00132-5"},{"key":"e_1_2_7_54_1","doi-asserted-by":"publisher","DOI":"10.1016\/0165-5876(94)01090-K"},{"key":"e_1_2_7_55_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0913985107"},{"key":"e_1_2_7_56_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ydbio.2008.03.027"},{"key":"e_1_2_7_57_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ydbio.2005.09.011"},{"key":"e_1_2_7_58_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrc2780"},{"key":"e_1_2_7_59_1","doi-asserted-by":"publisher","DOI":"10.1597\/1545-1569(1996)033<0524:AAOCOP>2.3.CO;2"},{"key":"e_1_2_7_60_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/6.10.1647"},{"key":"e_1_2_7_61_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cytogfr.2005.03.001"},{"key":"e_1_2_7_62_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0436500100"},{"key":"e_1_2_7_63_1","doi-asserted-by":"publisher","DOI":"10.1097\/00001665-200107000-00018"}],"container-title":["Developmental Dynamics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fdvdy.23903","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/anatomypubs.onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/dvdy.23903","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,13]],"date-time":"2025-10-13T17:57:11Z","timestamp":1760378231000},"score":1,"resource":{"primary":{"URL":"https:\/\/anatomypubs.onlinelibrary.wiley.com\/doi\/10.1002\/dvdy.23903"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2012,12,5]]},"references-count":62,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2013,1]]}},"alternative-id":["10.1002\/dvdy.23903"],"URL":"https:\/\/doi.org\/10.1002\/dvdy.23903","archive":["Portico"],"relation":{},"ISSN":["1058-8388","1097-0177"],"issn-type":[{"value":"1058-8388","type":"print"},{"value":"1097-0177","type":"electronic"}],"subject":[],"published":{"date-parts":[[2012,12,5]]}}}