Severe Meningeal Calcification in a Crouzon Patient Carrying a Mutant C342W FGFR2. Issue 2 (March 2015)

• Record Type: Journal Article
• Authors: Ke, Ronghu; Lei, Jiaqi; Ge, Min; Cai, Tianyi; Yang, Junyi; Wu, Yingzhi; Mu, Xiongzheng
• Is Part Of: Journal of craniofacial surgery. Volume 26:Issue 2(2015)
• Publication Date: 2015-03
• Subjects: Facial bones -- Surgery -- Periodicals; Skull -- Surgery -- Periodicals; Face -- Surgery -- Periodicals; Surgery, Plastic -- Periodicals; 617.52
• DOI: 10.1097/SCS.0000000000001393
• Languages: English
• ISSNs: 1049-2275

Abstract

<abstract> <title> <x xml:space="preserve">Abstract</x> </title> <sec> <title>Abstract</title> <p>Crouzon is an autosomal dominant craniosynostosis syndrome caused by mutation in the fibroblast growth factor receptor (<italic>FGFR</italic>)-2 gene. Recent findings from animal studies imply a critical role for FGFs in the regulation of mineralization. Here, we presented a 5-year-old girl with severe meningeal calcification. Subsequently, we analyzed <italic>FGFR2</italic> mutation and identified a mutation of Cys342Tyr. The findings suggest that abnormal calcification was atypical phenotype of Crouzon patients with Cys342Tyr mutation in <italic>FGFR2</italic>.</p> </sec> </abstract>