title: Mixed sclerosing bone dysplasia, small stature, seizure disorder, and mental retardation: a syndrome?
abstract: We present a 40-year-old man with mental retardation, short stature, minor anomalies, and seizures, who was found to have osteopoikilosis with melorheostosis (mixed sclerosing bone dysplasia, MSBD). Cytogenetic findings of a low level trisomy 8 mosaicism were not confirmed by fluorescence in situ hybridization (FISH) of fibroblast cells. To our knowledge, the association of MSBD and mental retardation has not been previously reported.
authors.affiliation: Department of Medical Genetics, University of British Columbia, Vancouver, Canada.
authors.forename: S B
authors.initials: SB
authors.lastname: Jurenka
authors.forename: M I
authors.initials: MI
authors.lastname: Van Allen
mesh_terms: D000328:Adult; D001847:Bone Diseases / Q000175:diagnosis / Q000000981:diagnostic imaging / Q000235:genetics*; D002898:Chromosomes, Human, Pair 8; D006130:Growth Disorders / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008607:Intellectual Disability / Q000175:diagnosis / Q000235:genetics*; D007621:Karyotyping; D008297:Male; D009030:Mosaicism; D011859:Radiography; D013577:Syndrome; D014314:Trisomy