Beare-Stevenson syndrome: Two Dutch patients with cerebral abnormalities
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.
|Persistent URL||dx.doi.org/10.1016/j.pediatrneurol.2010.11.015, hdl.handle.net/1765/33971|
Barge-Schaapveld, D.Q.C.M., Brooks, A.S., Leguin, M., van Spaendonk, R.M.L., Vermeulen, R.J., & Cobben, J.M.. (2011). Beare-Stevenson syndrome: Two Dutch patients with cerebral abnormalities. Pediatric Neurology, 44(4), 303–307. doi:10.1016/j.pediatrneurol.2010.11.015