title: [Cockayne syndrome].
abstract: A 9-year-old girl with characteristic clinical signs of Cockayne's syndrome type I (cachectic dwarfism, "senile" like appearance, mental retardation, progressive neurologic and retinal degeneration) is presented. Computerized tomography and magnetic resonance imaging of the brain have shown a large malformation in cerebral posterior fossa. The case also has unusual aspects: pronounced congenital hypertrichosis and dark pigmented teeth. To our knowledge, these signs have never been described in the literature in connection with this rare syndrome.
authors.affiliation: Klinika za pedijatriju, Rebro, Zagreb.
authors.forename: M
authors.initials: M
authors.lastname: Dumić
authors.forename: I
authors.initials: I
authors.lastname: Jasenka
authors.forename: A
authors.initials: A
authors.lastname: Silahić
authors.forename: R
authors.initials: R
authors.lastname: Kordić
mesh_terms: D002648:Child; D003057:Cockayne Syndrome / Q000175:diagnosis; D005260:Female; D006801:Humans
vernacular_title: Cockayneov sindrom.