Document Detail

Blepharophimosis mental retardation syndrome Say-Barber/Biesecker/Young-Simpson type - New findings with neuroimaging.
MedLine Citation:
PMID:  21344633     Owner:  NLM     Status:  Publisher    
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.
Katalin Szakszon; Ervin Berényi; András Jakab; Beáta Bessenyei; Erzsébet Balogh; Tamás Köbling; Judit Szilvássy; Alida C Knegt; Eva Oláh
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Publication Detail:
Type:  JOURNAL ARTICLE     Date:  2011-2-22
Journal Detail:
Title:  American journal of medical genetics. Part A     Volume:  -     ISSN:  1552-4833     ISO Abbreviation:  -     Publication Date:  2011 Feb 
Date Detail:
Created Date:  2011-2-23     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  101235741     Medline TA:  Am J Med Genet A     Country:  -    
Other Details:
Languages:  ENG     Pagination:  -     Citation Subset:  -    
Copyright Information:
Copyright © 2011 Wiley-Liss, Inc.
Institute of Pediatrics, Clinical Genetics Center, University of Debrecen, Medical and Health Science Center, Debrecen, Hungary.
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