[Cockayne syndrome. Case report].
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.
Guardiola
A
A
Departamento de Neurologia, Fundação Faculdade Federal de Ciências Médicas de Porto Alegre (FFFCMPA), Brasil.
Alvares-da-Silva
C R
CR
Grisolia
J R
JR
Silbermann
R
R
D002675:Child, Preschool; D003057:Cockayne Syndrome / Q000150:complications / Q000175:diagnosis*; D005260:Female; D006801:Humans