title: Skeletal dysplasia, intracerebral calcifications, optic atrophy, hearing impairment, and mental retardation: nosology of dysosteosclerosis.
abstract: A girl who presented at 3 months of life with severe developmental delay, blindness, and hearing impairment was found to have intracerebral calcifications. Skeletal films showed craniotubular bone modeling consistent with dysosteosclerosis. The nosology of this disorder is discussed.
authors.affiliation: Department of Pediatrics, Centre for Human Genetics, Montreal, Quebec, Canada.
authors.forename: D
authors.initials: D
authors.lastname: Chitayat
authors.forename: K
authors.initials: K
authors.lastname: Silver
authors.forename: E M
authors.initials: EM
authors.lastname: Azouz
mesh_terms: D000015:Abnormalities, Multiple; D001927:Brain Diseases / Q000000981:diagnostic imaging*; D002114:Calcinosis / Q000000981:diagnostic imaging*; D002675:Child, Preschool; D005260:Female; D034381:Hearing Loss / Q000150:complications; D006801:Humans; D008607:Intellectual Disability / Q000150:complications; D009896:Optic Atrophy / Q000150:complications; D010026:Osteosclerosis / Q000000981:diagnostic imaging*; D011859:Radiography