Publication: Severe Cloverleaf Skull Deformity in c.1061C>G (p.Ser354Cys) Mutated Fibroblast Growth Factor Receptor 2 Gene in Crouzon Syndrome
| dc.contributor.author | Sarut Chaisrisawadisuk | en_US |
| dc.contributor.author | Elie Hammam | en_US |
| dc.contributor.author | Cindy J. Molloy | en_US |
| dc.contributor.author | Christopher Barnett | en_US |
| dc.contributor.author | Peter J. Anderson | en_US |
| dc.contributor.author | Mark H. Moore | en_US |
| dc.contributor.other | Siriraj Hospital | en_US |
| dc.contributor.other | Faculty of Health and Medical Sciences | en_US |
| dc.contributor.other | Women's and Children's Hospital Adelaide | en_US |
| dc.date.accessioned | 2022-08-04T11:12:36Z | |
| dc.date.available | 2022-08-04T11:12:36Z | |
| dc.date.issued | 2021-01-01 | en_US |
| dc.description.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. | en_US |
| dc.identifier.citation | Journal of Craniofacial Surgery. Vol.32, No.1 (2021), 261-264 | en_US |
| dc.identifier.doi | 10.1097/SCS.0000000000006999 | en_US |
| dc.identifier.issn | 15363732 | en_US |
| dc.identifier.issn | 10492275 | en_US |
| dc.identifier.other | 2-s2.0-85099321871 | en_US |
| dc.identifier.uri | https://repository.li.mahidol.ac.th/handle/123456789/78857 | |
| dc.rights | Mahidol University | en_US |
| dc.rights.holder | SCOPUS | en_US |
| dc.source.uri | https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=85099321871&origin=inward | en_US |
| dc.subject | Medicine | en_US |
| dc.title | Severe Cloverleaf Skull Deformity in c.1061C>G (p.Ser354Cys) Mutated Fibroblast Growth Factor Receptor 2 Gene in Crouzon Syndrome | en_US |
| dc.type | Article | en_US |
| dspace.entity.type | Publication | |
| mu.datasource.scopus | https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=85099321871&origin=inward | en_US |