Journal of Craniofacial Surgery. Vol.32, No.1 (2021), 261-264
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Sarut Chaisrisawadisuk, Elie Hammam, Cindy J. Molloy, Christopher Barnett, Peter J. Anderson, Mark H. Moore Severe Cloverleaf Skull Deformity in c.1061C>G (p.Ser354Cys) Mutated Fibroblast Growth Factor Receptor 2 Gene in Crouzon Syndrome. Journal of Craniofacial Surgery. Vol.32, No.1 (2021), 261-264. doi:10.1097/SCS.0000000000006999 Retrieved from: https://repository.li.mahidol.ac.th/handle/123456789/78857
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Severe Cloverleaf Skull Deformity in c.1061C>G (p.Ser354Cys) Mutated Fibroblast Growth Factor Receptor 2 Gene in Crouzon Syndrome
Cloverleaf skull deformity (CSD), or Kleeblattschädel, is a condition with severe and unpatterned multisuture craniosynostosis, resulting in a trilobar-shaped skull. This deformity mainly comprises a cranio-orbito-facial malformation that leads to a spectrum of multidisciplinary issues. Several syndromes are associated with CSD, such as Crouzon syndrome (CS). Here, we report the case of an infant with CS and the pathogenic c.1061C>G (p.Ser354Cys) variant of the fibroblast growth factor receptor 2 (FGFR2) gene. The child presented with the severe form of CSD despite having a normal, mid-trimester, sonographic scan.
