{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,28]],"date-time":"2026-02-28T20:39:48Z","timestamp":1772311188840,"version":"3.50.1"},"reference-count":21,"publisher":"Journal of Neurosurgery Publishing Group (JNSPG)","issue":"2","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2002,8]]},"abstract":"<jats:p content-type=\"fine-print\"><jats:italic>Object.<\/jats:italic> It has been reported that due to premature synostosis of the lambdoid suture in the first 24 months of life, more than 70% of patients with Crouzon syndrome concurrently suffer from chronic tonsillar herniation (Chiari Type I malformation) and some (20%) associated syringomyelia. The goal of the present study was to examine mutations in the <jats:italic>fibroblast growth factor receptor (FGFR)<\/jats:italic> genes in Crouzon syndrome and its related conditions.<\/jats:p>\n<jats:p content-type=\"fine-print\"><jats:italic>Methods.<\/jats:italic> Five patients were studied: three with Crouzon syndrome (one sporadic and two familial), one with sporadic Chiari I with syringomyelia, and one with unilateral lambdoid synostosis. Deoxyribonucleic acid was screened for <jats:italic>FGFR1\u20133<\/jats:italic> mutations by using single-strand conformational polymorphism and subsequent direct sequencing.<\/jats:p>\n<jats:p content-type=\"fine-print\">Two types of missense mutations were detected in the <jats:italic>FGFR2<\/jats:italic> gene, Cys342Trp (1205, TGC \u2192 TGG) in a patient with sporadic Crouzon syndrome and Tyr281Cys (1021, TAC \u2192 TGC) in two siblings (brother and sister) with familial Crouzon syndrome, respectively. The former has been reported only in sporadic cases but the latter has not previously been identified. A polymorphism in the <jats:italic>FGFR3<\/jats:italic> gene, Asn294Asn (882, AAT \u2192 AAC), was also detected in three patients. No mutation was found in the patient with sporadic Chiari I with syringomyelia.<\/jats:p>\n<jats:p content-type=\"fine-print\"><jats:italic>Conclusions.<\/jats:italic> The <jats:italic>FGFR2<\/jats:italic> missense mutation was detected in Crouzon syndrome but not in sporadic Chiari I with syringomyelia or lambdoid synostosis. A novel <jats:italic>FGFR2<\/jats:italic> mutation, Tyr281Cys, was found in familial Crouzon syndrome with Chiari I and syringomyelia. It may be informative to look for this in patients with Crouzon syndrome and associated syringomyelia.<\/jats:p>","DOI":"10.3171\/jns.2002.97.2.0396","type":"journal-article","created":{"date-parts":[[2009,5,13]],"date-time":"2009-05-13T17:45:03Z","timestamp":1242236703000},"page":"396-400","source":"Crossref","is-referenced-by-count":38,"title":["A novel fibroblast growth factor receptor 2 mutation in Crouzon syndrome associated with Chiari Type I malformation and 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