title: Blepharophimosis mental retardation syndrome Say-Barber/Biesecker/Young-Simpson type - new findings with neuroimaging.
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.
authors.affiliation: Institute of Pediatrics, Clinical Genetics Center, University of Debrecen, Hungary. szakszon@med.unideb.hu
authors.forename: Katalin
authors.initials: K
authors.lastname: Szakszon
authors.forename: Ervin
authors.initials: E
authors.lastname: Berényi
authors.forename: András
authors.initials: A
authors.lastname: Jakab
authors.forename: Beáta
authors.initials: B
authors.lastname: Bessenyei
authors.forename: Erzsébet
authors.initials: E
authors.lastname: Balogh
authors.forename: Tamás
authors.initials: T
authors.lastname: Köbling
authors.forename: Judit
authors.initials: J
authors.lastname: Szilvássy
authors.forename: Alida C
authors.initials: AC
authors.lastname: Knegt
authors.forename: Eva
authors.initials: E
authors.lastname: Oláh
mesh_terms: D016880:Anisotropy; D016569:Blepharophimosis / Q000150:complications*; D001921:Brain / Q000473:pathology*; D002648:Child; D003409:Congenital Hypothyroidism / Q000150:complications; D056324:Diffusion Tensor Imaging; D005141:Eyelid Diseases / Q000150:complications; D019066:Facies; D005260:Female; D006330:Heart Defects, Congenital; D006628:Hirsutism / Q000150:complications; D006801:Humans; D006972:Hypertelorism / Q000150:complications; D006983:Hypertrichosis / Q000150:complications; D007223:Infant; D008607:Intellectual Disability / Q000150:complications*; D007593:Joint Instability; D008265:Macrostomia / Q000150:complications; D008279:Magnetic Resonance Imaging; D012868:Skin Abnormalities / Q000150:complications