{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,26]],"date-time":"2026-09-26T14:54:53Z","timestamp":1790434493367,"version":"4.1.0"},"reference-count":24,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2012,9,17]],"date-time":"2012-09-17T00:00:00Z","timestamp":1347840000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2012,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Central nervous system anomalies in Pfeiffer syndrome (PS) due to mutations in the <jats:italic>FGFR2<\/jats:italic> gene are poorly understood, even though PS is often associated with serious cognitive impairment. The aim of this study is to describe the neuropathological phenotype in PS. We present four severe fetal cases of sporadic PS with <jats:italic>FGFR2<\/jats:italic> mutations who underwent termination followed by fetopathological and neuropathological examination. We studied the expression pattern of <jats:italic>Fgfr2<\/jats:italic> in the mouse brain using radioactive fluorescence in situ hybridization. PS is associated with brain deformations due to the abnormal skull shape, but <jats:italic>FGFR2<\/jats:italic> mutations also induce specific brain developmental anomalies: megalencephaly, midline disorders, amygdala, and hippocampus malformations, and ventricular wall alterations. The expression pattern of <jats:italic>Fgfr2<\/jats:italic> in mice matches the distribution of malformations in humans. The brain anomalies in PS result from the combination of mechanical deformations and intrinsic developmental disorders due to <jats:italic>FGFR2<\/jats:italic> hyperactivity. Several similarities are noted between these anomalies and the brain lesions observed in other syndromes due to mutations in FGF\u2010receptor genes. The specific involvement of the hippocampus and the amygdala should encourage the precise cognitive screening of patients with mild forms of PS. \u00a9 2012 Wiley Periodicals, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.35598","type":"journal-article","created":{"date-parts":[[2012,9,17]],"date-time":"2012-09-17T20:33:10Z","timestamp":1347913990000},"page":"2797-2806","source":"Crossref","is-referenced-by-count":27,"title":["Central nervous system malformations and deformations in <i>FGFR2<\/i>\u2010related craniosynostosis"],"prefix":"10.1002","volume":"158A","author":[{"given":"Roman Hossein","family":"Khonsari","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anne\u2010Lise","family":"Delezoide","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wenfei","family":"Kang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jean 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