Cockayne syndrome with early onset of manifestations
- 1 October 1982
- journal article
- case report
- Published by Wiley in American Journal of Medical Genetics
- Vol. 13 (2) , 225-230
- https://doi.org/10.1002/ajmg.1320130213
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.Keywords
This publication has 5 references indexed in Scilit:
- Syndrome of microcephaly, cataracts, kyphosis, and joint contractures versus Cockayne's syndromeThe Journal of Pediatrics, 1973
- Cataracts, microcephaly, kyphosis, and limited joint movement in two siblings: A new syndromeThe Journal of Pediatrics, 1971
- Ocular Manifestations of Cockayne's SyndromeAmerican Journal of Ophthalmology, 1969
- The Neuropathology of Cockayne's Syndrome*†Journal of Neuropathology and Experimental Neurology, 1967
- Dwarfism with retinal atrophy and deafnessArchives of Disease in Childhood, 1936