Beare-Stevenson Syndrome: Two Dutch Patients With Cerebral Abnormalities - 02/08/11
, Alice S. Brooks, MD, PhD †, Maarten H. Lequin, MD, PhD ‡, Rosalinda van Spaendonk §, R. Jeroen Vermeulen, MD, PhD ¶, Jan Maarten Cobben, MD, PhD ⁎ 
Department of Paediatric Genetics, Academic Medical Centre, Amsterdam, The Netherlands Communications should be addressed to: Dr. Cobben; Department of Paediatric Genetics; Emma Children’s Hospital/Academic Medical Centre; Meibergdreef 9; 1105 AZ Amsterdam; The Netherlands.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.
Le texte complet de cet article est disponible en PDF.Plan
Vol 44 - N° 4
P. 303-307 - avril 2011 Retour au numéro
Article précédent
- Moyamoya Disease in Early Infancy: Case Report and Literature Review
- Catherine Amlie-Lefond, Osama O. Zaidat, Sean M. Lew
- Shapiro Shulman Syndrome: A Forgotten Condition
- José María Prats Viñas, Isabel Suinaga Errasti, Raquel Blanco Lago
Bienvenue sur EM-consulte, la référence des professionnels de santé.
L’accès au texte intégral de cet article nécessite un abonnement.
Déjà abonné à cette revue ?