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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

Abstract

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
@Article{eth_biwi_00817,
  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}
}