title: [Cockayne syndrome. Case report].
abstract: We describe a girl with Cockayne syndrome (CS), the diagnostic criteria and the complications of this syndrome. The required criteria for the diagnosis include: prenatal poor growth failure, congenital structural eye anomalies, cataracts, pigmentary retinopathy, severe neurologic dysfunction from birth, sensorineural hearing loss, cutaneous photosensitivity and dental caries. CS is a rare autosomal recessive and biochemical disorder.
authors.affiliation: Departamento de Neurologia, Fundação Faculdade Federal de Ciências Médicas de Porto Alegre (FFFCMPA), Brasil.
authors.forename: A
authors.initials: A
authors.lastname: Guardiola
authors.forename: C R
authors.initials: CR
authors.lastname: Alvares-da-Silva
authors.forename: J R
authors.initials: JR
authors.lastname: Grisolia
authors.forename: R
authors.initials: R
authors.lastname: Silbermann
mesh_terms: D002675:Child, Preschool; D003057:Cockayne Syndrome / Q000150:complications / Q000175:diagnosis*; D005260:Female; D006801:Humans