Beare-Stevenson Syndrome: Two Dutch Patients With Cerebral Abnormalities

DQCM Barge-Schaapveld, Alice Brooks, MH Lequin, RML (Rosalina) van Spaendonk, RJ Vermeulen, JM Cobben

Research output: Contribution to journalArticleAcademicpeer-review

10 Citations (Scopus)

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. (C) 2011 Elsevier Inc. All rights reserved.
Original languageEnglish
Pages (from-to)303-307
Number of pages5
JournalPediatric Neurology
Volume44
Issue number4
DOIs
Publication statusPublished - 2011

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