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  • Title: Severe Cloverleaf Skull Deformity in c.1061C>G (p.Ser354Cys) Mutated Fibroblast Growth Factor Receptor 2 Gene in Crouzon Syndrome.
    Author: Chaisrisawadisuk S, Hammam E, Molloy CJ, Barnett C, Anderson PJ, Moore MH.
    Journal: J Craniofac Surg; ; 32(1):261-264. PubMed ID: 32956303.
    Abstract:
    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.
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