Beare-Stevenson syndrome: two Dutch patients with cerebral abnormalities |
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Authors: | Barge-Schaapveld Daniela Q C M Brooks Alice S Lequin Maarten H van Spaendonk Rosalinda Vermeulen R Jeroen Cobben Jan Maarten |
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Affiliation: | Department of Paediatric Genetics, Academic Medical Centre, Amsterdam, The Netherlands. |
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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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