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  • Title: Beare-Stevenson syndrome: two Dutch patients with cerebral abnormalities.
    Author: Barge-Schaapveld DQ, Brooks AS, Lequin MH, van Spaendonk R, Vermeulen RJ, Cobben JM.
    Journal: Pediatr Neurol; 2011 Apr; 44(4):303-7. PubMed ID: 21397175.
    Abstract:
    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.
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