Beare - Stevenson - Syndrome
Last Updated: 2023-07-07
Author(s): Anzengruber F., Navarini A.
Cutis – verticis – gyrata syndrome
Cutis – gyrata syndrome
Craniosynostosis syndrome, which is caused by a mutation of FGFR2 (fibroblast – growth factor – receptor 2.
Autosomal dominant mutation of FGFR2 (fibroblast – growth factor – receptor 2.
Cutis gyrata (scalp and preauricular region as well as palmoplantar)
- Neurological deficits
- Connatal teeth
- Atresia of nasal cavities, genital and anal outlet.
- Walker KA, Sims-Lucas S, Bates CM. Fibroblast growth factor receptor signaling in kidney and lower urinary tract development. Pediatr Nephrol. 2016 Jun;31(6):885-95.
- McGaughran J, Sinnott S, Susman R, Buckley MF, Elakis G, Cox T, Roscioli T. A case of Beare-Stevenson syndrome with a broad spectrum of features and a review of the FGFR2 Y375C mutation phenotype. Clin Dysmorphol. 2006 Apr;15(2):89-93.