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Aortic dilatation in Cockayne syndrome
American Journal of Medical Genetics Part A, 2007AbstractCockayne syndrome is a rare growth failure and premature aging disorder featuring abnormal ultraviolet sensitivity and impaired transcription‐coupled DNA repair. Cardiac involvement has not been described in Cockayne patients except for one recently described case of dilated cardiomyopathy. We describe one patient in whom marked ascending aorta
Aline Cano +2 more
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Renal lesions in Cockayne syndrome
Pediatric Nephrology, 1988Two siblings with typical features of the Cockayne syndrome were studied at autopsy. Many glomeruli revealed a paucity of capillary loops and had thickened capillary walls. Some glomeruli with advanced lesions showed collapse of the glomerular tufts or complete hyalinization. Atrophy of tubules and interstitial fibrosis were also observed.
Mitsuru Kamada +2 more
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Peripheral neuropathy in Cockayne syndrome
The Italian Journal of Neurological Sciences, 1986Two siblings with Cockayne syndrome are reported. In one case a sural nerve biopsy showed a demyelinating peripheral neuropathy with occasional inclusions in Schwann cells made up of electron dense finely granular material intermingled with vacuoles or lamellar structures. The significance, if any, of this accumulated material remains unclear.
SCHENONE, ANGELO +5 more
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PRENATAL DIAGNOSIS OF COCKAYNE'S SYNDROME
The Lancet, 1985Cockayne's syndrome (CS) was diagnosed prenatally by examination of amniotic cells cultured in vitro. RNA synthesis after irradiation with ultraviolet light was abnormal in cells from a fetus with CS but not in cells from a fetus which was normal. The procedure is simple and rapid and the outcome of the test in two cases (one positive, one negative ...
Francesco Giannelli +2 more
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Histopathology of the Eye in Cockayne's Syndrome
Archives of Ophthalmology, 1983The eyes of a 44-month-old boy with Cockayne's syndrome had retinal pigmentary abnormalities that included variable pigmentation and excessive lipofuscin deposition in the retinal pigment epithelium and unusual pigmented cells in the retina and subretinal space. There was optic nerve atrophy with loss of nerve fibers and myelin sheaths and also atrophy
W. Richard Green +3 more
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Excision repair in Cockayne syndrome
Mutation Research/Fundamental and Molecular Mechanisms of Mutagenesis, 1982Cockayne syndrome (CS) is a genetic disorder showing cellular sensitivity to the lethal effects of UV-irradiation. No defects in unscheduled DNA synthesis or in daughter-strand repair have been detected after UV-irradiation of CS cells. We have studied several aspects of excision repair, particularly at early times after UV-irradiation, and with one ...
Raymond Waters +2 more
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Early onset of cockayne syndrome [PDF]
American Journal of Medical Genetics, 1982 R. B. Lowry, John M. Opitz
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