Moyer D B, Marquis P, Shertzer M E, Burton B K
Am J Med Genet. 1982 Oct;13(2):225-30. doi: 10.1002/ajmg.1320130213.
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.
科凯恩综合征是一种常染色体隐性综合征，其特征为生长发育迟缓以及典型的身体和病理变化。通常，该病症在出生后第二年显现；第一年时生长发育正常。我们报告了一对疑似同卵双胞胎，他们患有典型的科凯恩综合征，但发病于产前。先前描述的一些病例似乎代表了科凯恩综合征的一种类似形式，其特征为生长发育迟缓及发育延迟早发。
