Cockayne syndrome with early onset of manifestations.
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.
D003057:Cockayne Syndrome / Q000175:diagnosis / Q000235:genetics*; D003937:Diagnosis, Differential; D004200:Diseases in Twins; D004392:Dwarfism / Q000235:genetics*; D006801:Humans; D007223:Infant; D008297:Male