Severe Cloverleaf Skull Deformity in c.1061C>G (p.Ser354Cys) Mutated Fibroblast Growth Factor Receptor 2 Gene in Crouzon Syndrome

Sarut Chaisrisawadisuk, Elie Hammam, Cindy J. Molloy, Christopher Barnett, Peter J. Anderson, Mark H. Moore

Research output: Contribution to journalArticlepeer-review

1 Citation (Scopus)

Abstract

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.

Original languageEnglish
Pages (from-to)261-264
Number of pages4
JournalThe Journal of craniofacial surgery
Volume32
Issue number1
DOIs
Publication statusPublished or Issued - 1 Jan 2021
Externally publishedYes

ASJC Scopus subject areas

  • Surgery
  • Otorhinolaryngology

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