Brief clinical report: Cockayne syndrome with early onset of manifestations

D. B. Moyer, P. Marquis, M. E. Shertzer, B. K. Burton

Research output: Contribution to journalArticlepeer-review

18 Scopus citations

Abstract

The Cockayne syndrome is an autosomal recessive syndrome of growth failure and characteristic physical and pathological changes. Typically the disorder becomes manifest in the second year of life; growth and development are normal during the first year. We report presumably monozygotic twins with otherwise classic Cockayne syndrome but with a prenatal onset. Several previously described cases seem to represent a similar form of Cockayne syndrome with early onset of growth failure and development delay.

Original languageEnglish (US)
Pages (from-to)225-230
Number of pages6
JournalAmerican Journal of Medical Genetics
Volume13
Issue number2
DOIs
StatePublished - Jan 1 1982

ASJC Scopus subject areas

  • Genetics(clinical)

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