Beare-Stevenson syndrome (BSS) is a rare autosomal-dominant condition characterized by cutis gyrata, craniosynostosis, acanthosis nigricans, anogenital anomalies, and a prominent umbilical stump. In 1996, two mutations in the fibroblast growth factor receptor 2 gene were found to cause this syndrome, thereby including BSS in the fibroblast growth factor receptor gene-related craniosynostosis spectrum. Until now, 12 patients with fibroblast growth factor receptor 2 gene-related BSS have been described. We report what is to our knowledge the first 2 Dutch patients with this syndrome, both caused by the mutation Tyr375Cys in the fibroblast growth factor receptor 2 gene. The patients exhibited a simplified gyral pattern, an abnormal posterior fossa, and an abnormal hippocampus on cranial magnetic resonance imaging. We discuss the clinical and radiologic findings in fibroblast growth factor receptor 2 gene-related BSS.

doi.org/10.1016/j.pediatrneurol.2010.11.015, hdl.handle.net/1765/33971
Pediatric Neurology
Erasmus MC: University Medical Center Rotterdam

Barge-Schaapveld, D., Brooks, A., Leguin, M., van Spaendonk, R., Vermeulen, J., & Cobben, J. (2011). Beare-Stevenson syndrome: Two Dutch patients with cerebral abnormalities. Pediatric Neurology, 44(4), 303–307. doi:10.1016/j.pediatrneurol.2010.11.015