{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,1]],"date-time":"2026-10-01T06:48:25Z","timestamp":1790837305052,"version":"4.1.0"},"reference-count":48,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2016,3,30]],"date-time":"2016-03-30T00:00:00Z","timestamp":1459296000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100001807","name":"S\u00e3o Paulo Research Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100001807","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100002322","name":"Brazilian Federal Agency for the Support and Evaluation of Graduate Education","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100002322","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003593","name":"National Council for Scientific and Technological Development","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100003593","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2016,6]]},"abstract":"<jats:sec>\n                    <jats:label\/>\n                    <jats:p>\n                      Apert and Crouzon are the most common craniosynostosis syndromes associated with mutations in the fibroblast growth factor receptor 2 (\n                      <jats:italic>FGFR2<\/jats:italic>\n                      ) gene. We conducted a study to examine the molecular biology, brain abnormalities, and cognitive development of individuals with these syndromes. A retrospective longitudinal review of 14 patients with Apert and Crouzon syndromes seen at the outpatient Craniofacial Surgery Hospital for Rehabilitation of Craniofacial Anomalies in Brazil from January 1999 through August 2010 was performed. Patients between 11 and 36 years of age (mean 18.29\u2009\u00b1\u20095.80), received cognitive evaluations, cerebral magnetic resonance imaging, and molecular DNA analyses. Eight patients with Apert syndrome (AS) had full scale intelligence quotients (FSIQs) that ranged from 47 to 108 (mean 76.9\u2009\u00b1\u200920.2), and structural brain abnormalities were identified in five of eight patients. Six patients presented with a gain\u2010of\u2010function mutation (p.Ser252Trp) in\n                      <jats:italic>FGFR2<\/jats:italic>\n                      and FSIQs in those patients ranged from 47 to78 (mean 67.2\u2009\u00b1\u200910.7). One patient with a gain\u2010of\u2010function mutation (p.Pro253Arg) had a FSIQ of 108 and another patient with an atypical splice mutation (940\u20132A \u2192G) had a FSIQ of 104. Six patients with Crouzon syndrome had with mutations in exons IIIa and IIIc of\n                      <jats:italic>FGFR2<\/jats:italic>\n                      and their FSIQs ranged from 82 to 102 (mean 93.5\u2009\u00b1\u20096.7). These reveal that molecular aspects are another factor that can be considered in studies of global and cognitive development of patients with Apert and Crouzon syndrome (CS). \u00a9 2016 Wiley Periodicals, Inc.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/ajmg.a.37640","type":"journal-article","created":{"date-parts":[[2016,3,31]],"date-time":"2016-03-31T17:31:42Z","timestamp":1459445502000},"page":"1532-1537","source":"Crossref","is-referenced-by-count":45,"title":["Apert and Crouzon syndromes\u2014Cognitive development, brain abnormalities, and molecular aspects"],"prefix":"10.1002","volume":"170","author":[{"given":"Marilyse B. 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