Rapidly Progressive Multisutural Craniosynostosis in a Patient With Jackson-Weiss Syndrome and a De Novo FGFR2 Pathogenic Variant.

We report on a patient with a de novo pathogenic variant of FGFR2 and a phenotype consistent with Jackson-Weiss syndrome who presented with delayed, rapidly progressive multisutural craniosynostosis and associated medical complications. Using 3-dimensional modeling of the FGFR protein, we provide evidence that this variant resulted in abnormal dimerization and constitutive activation of FGFR, leading to the Jackson-Weiss phenotype. Knowledge regarding the correlation between genotype and phenotype of persons with FGFR2-related craniosynostosis has the potential to allow for anticipation of medical complications, institution of early treatment, and improved clinical outcomes.
PMID: 31122048 [PubMed - as supplied by publisher]

Source: The Cleft Palate-Craniofacial Journal - May 22, 2019 Category: ENT & OMF Authors: Celie KB, Yuan M, Cunniff C, Bogue J, Hoffman C, Imahiyerobo T Tags: Cleft Palate Craniofac J Source Type: research