title: Association of myopathy with multiple exostoses and mental retardation: a case report.
abstract: We report an 18-year-old male with multiple exostoses, dysmorphic features, mental retardation and myopathy. The case is discussed in the light of previously reported disorders in which multiple exostoses are associated with neurological impairment.
authors.affiliation: Institute of Neurological Sciences, University of Siena, Italy.
authors.forename: N
authors.initials: N
authors.lastname: De Stefano
authors.forename: M T
authors.initials: MT
authors.lastname: Dotti
authors.forename: A
authors.initials: A
authors.lastname: Malandrini
authors.forename: A
authors.initials: A
authors.lastname: Federico
mesh_terms: D000293:Adolescent; D001921:Brain / Q000473:pathology; D005097:Exostoses, Multiple Hereditary / Q000000981:diagnostic imaging / Q000235:genetics* / Q000473:pathology; D006801:Humans; D006811:Humerus / Q000000981:diagnostic imaging; D008607:Intellectual Disability / Q000000981:diagnostic imaging / Q000235:genetics* / Q000473:pathology; D008279:Magnetic Resonance Imaging; D008297:Male; D009132:Muscles / Q000473:pathology; D009135:Muscular Diseases / Q000000981:diagnostic imaging / Q000235:genetics* / Q000473:pathology; D011859:Radiography