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

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


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.


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

This journal is a member of COPE (Committee on Publication Ethics) and follow the principles recommended by this international reference organization on integrity and ethics in scientific publication.

Licença Creative Commons
Except where otherwise noted, the material published in this journal is licensed under a Creative Commons Attribution 4.0 International licence, which permits unrestricted use, distribution, and reproduction in any medium, provided the original publication is properly cited.
Attribution — You must give appropriate credit, provide a link to the license, and indicate if changes were made. You may do so in any reasonable manner, but not in any way that suggests the licensor endorses you or your use.

 Member of OASPA

Copyright: © 2006-2019 EDIPUCRS