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

Katalin Szakszon, Ervin Berényi, András Jakab, Beáta Bessenyei, Erzsébet Balogh, Tamás Köbling, Judit Szilvássy, Alida C. Knegt, Éva Oláh

Research output: Contribution to journalArticle

7 Citations (Scopus)

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.

Original languageEnglish
Pages (from-to)634-637
Number of pages4
JournalAmerican Journal of Medical Genetics, Part A
Volume155
Issue number3
DOIs
Publication statusPublished - Mar 1 2011

Keywords

  • Blepharophimosis
  • Brain
  • Diffusion tensor magnetic resonance imaging
  • Mental retardation
  • Neuroimaging

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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