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Blepharophimosis mental retardation syndrome Say‐Barber/Biesecker/Young‐Simpson type – New findings with neuroimaging
Author(s) -
Szakszon Katalin,
Berényi Ervin,
Jakab András,
Bessenyei Beáta,
Balogh Erzsébet,
Köbling Tamás,
Szilvássy Judit,
Knegt Alida C.,
Oláh Éva
Publication year - 2011
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.33837
Subject(s) - blepharophimosis , abnormality , ptosis , subtelomere , comparative genomic hybridization , neuroimaging , medicine , magnetic resonance imaging , psychology , anatomy , audiology , neuroscience , radiology , biology , surgery , genetics , chromosome , psychiatry , gene
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.