This material is presented to ensure timely dissemination of scholarly and technical work. Copyright and all rights therein are retained by authors or by other copyright holders. All persons copying this information are expected to adhere to the terms and constraints invoked by each author's copyright. In most cases, these works may not be reposted without the explicit permission of the copyright holder.

Search for Publication

Year(s) from:  to 
Keywords (separated by spaces):

Blepharophimosis mental retardation syndrome Say-Barber/Biesecker/Young-Simpson type - New findings with neuroimaging.

Szakszon K, Berényi E, Jakab A, Bessenyei B, Balogh E, Köbling T, Szilvássy J, Knegt AC, Oláh E.
American Journal of Medical Genetics Part A
pp. doi: 10.1002/ajmg.a., February 2011, in press


We report on a female patient with blepharophimosis mental retardation syndrome of Say/Barber/Biesecker/Young-Simpson (SBBYS) type. Main findings in her were marked developmental delay, blepharophimosis, ptosis, cleft palate, external auditory canal stenosis, small and malformed teeth, hypothyroidism, hearing impairment, and joint limitations. We performed diffusion tensor magnetic resonance imaging (MRI) and tractography of the brain which showed inappropriate myelination and disturbed white matter integrity. Cytogenetic analysis, subtelomeric fluorescence in situ hybridization and comparative genomic hybridization failed to identify an abnormality. It remains uncertain whether the MRI findings are specific to the present patient or form part of the SBBYS syndrome. ? 2011 Wiley-Liss, Inc. Copyright ? 2011 Wiley-Liss, Inc.

Link to publisher's page
  author = {Szakszon K and Berényi E and Jakab A and Bessenyei B and Balogh E and K\"obling T and Szilvássy J and Knegt AC and Oláh E.},
  title = {Blepharophimosis mental retardation syndrome Say-Barber/Biesecker/Young-Simpson type - New findings with neuroimaging.},
  journal = {American Journal of Medical Genetics Part A},
  year = {2011},
  month = {February},
  pages = {doi: 10.1002/ajmg.a.},
  volume = {},
  number = {},
  keywords = {},
  note = {in press}