Related Experiment Videos
[Cockayne syndrome. Case report]
A Guardiola1, C R Alvares-da-Silva, J R Grisolia
1Departamento de Neurologia, Fundação Faculdade Federal de Ciências Médicas de Porto Alegre (FFFCMPA), Brasil.
Arquivos De Neuro-Psiquiatria
|May 29, 1999
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.