TY - JOUR
T1 - Beare-Stevenson Syndrome: Two Dutch Patients With Cerebral Abnormalities
AU - Barge-Schaapveld, Daniela Q. C. M.
AU - Brooks, Alice S.
AU - Lequin, Maarten H.
AU - van Spaendonk, Rosalinda
AU - Vermeulen, R. Jeroen
AU - Cobben, Jan Maarten
PY - 2011
Y1 - 2011
N2 - 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
AB - 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
U2 - https://doi.org/10.1016/j.pediatrneurol.2010.11.015
DO - https://doi.org/10.1016/j.pediatrneurol.2010.11.015
M3 - Article
C2 - 21397175
SN - 0887-8994
VL - 44
SP - 303
EP - 307
JO - Pediatric neurology
JF - Pediatric neurology
IS - 4
ER -