Cockayne’s syndrome: report of two cases
[Abstract in English]

Catarina Teixeira Resende, Susana Loureiro, Elisa Cardoso, Sofia Fonseca, Joaquim Sá, Fátima Simões

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.

Keywords


Cockayne Syndrome; Genetic Testing; Developmental Disabilities; Dwarfism; Facies.



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