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PMID: 7137233 Published · ppublish English Case Reports Journal Article

Cockayne syndrome with early onset of manifestations.

American journal of medical genetics ·Vol. 13 ·No. 2 ·1982-10-00 ·Pages 225-30

Moyer DB, Marquis P, Shertzer ME, Burton BK

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.

MeSH Terms
Cockayne Syndrome/diagnosis,genetics Diagnosis, Differential Diseases in Twins Dwarfism/genetics Humans Infant Male
Authors & Affiliations
4 authors, click to expand affiliations / ORCID
Moyer D B
Marquis P
Shertzer M E
Burton B K
Article Info
Journal
American journal of medical genetics
Abbr.
Am J Med Genet
ISSN
0148-7299
Published
1982-10-00
Pages
225-30
Language
English
Region
United States
NLM ID
7708900
Subset
IM
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