Cockayne’s syndrome: report of two cases <br><b>[Abstract in English]</b>
Keywords:
Cockayne Syndrome, Genetic Testing, Developmental Disabilities, Dwarfism, Facies.Abstract
AIMS: To report cases of Cockayne syndrome in two siblings, describing the clinical presentation and evolution. CASE DESCRIPTION: We describe the cases of two siblings, an 8 years old girl and a 13 years old boy, both with global developmental disability, microcephaly, dwarfism and peculiar facies (triangular face, microphthalmia, microstomia and micrognathia). New problems emerged during follow-up: sensorineural hearing loss, hypermetropia and photosensitivity. Clinical features suggested Cockayne syndrome, which was confirmed by molecular genetic testing. CONCLUSIONS: Cockayne’s syndrome is a rare (1/100,000), recessive autosomal disorder. Its diagnosis may be delayed because the signs and symptoms arise gradually and slowly. Obtaining the diagnostic criteria can take years and clinical suspicion is extremely important.Downloads
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Published
2012-12-21
How to Cite
Resende, C. T., Loureiro, S., Cardoso, E., Fonseca, S., Sá, J., & Simões, F. (2012). Cockayne’s syndrome: report of two cases <br><b>[Abstract in English]</b>. Scientia Medica, 22(4), 211–215. Retrieved from https://revistaseletronicas.pucrs.br/index.php/scientiamedica/article/view/11360
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