Cockayne's Syndrome

Paddison, Richard M.; Moossy, John; Derbes, Vincent J.; Kloepfer, Warner

doi:10.1111/ijd.1963.2.4.195

Cited by 21 publications

(3 citation statements)

References 9 publications

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“…Spark (1965) reported a generalized decrease in tone and diminished deep tendon reflexes in his two cases. One of the cases of Paddison et al (1963) had 'generalized muscular atrophy with diminished reflexes'. The second case described by Ohno and Hirooka (1966) had a right facial palsy.…”

Section: Discussionmentioning

confidence: 99%

“…Since this original description more than 20 cases of this syndrome have been described (Neill and Dingwall, 1950;McDonald, Fitch, and Lewis, 1960;Paddison et al, 1963;Windmiller, Whalley, and Fink, 1963;Spark, 1965;Wilkins, 1965;Ohno and Hirooka, 1966;and Rowlatt, 1969). In some, additional features were present, such as intracranial calcification, osteoporosis, nystagmus, tremor, diminished lachrymation and sweating, and associated renal lesions.…”

mentioning

confidence: 99%

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Peripheral Neuropathy in Cockayne's Syndrome

Moosa¹,

Dubowitz²

1970

Archives of Disease in Childhood

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Section: Discussionmentioning

confidence: 99%

mentioning

confidence: 99%

Peripheral Neuropathy in Cockayne's Syndrome

Moosa¹,

Dubowitz²

1970

Archives of Disease in Childhood

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“…Genetically, there is little doubt that the disease is transmitted as a single autosomal recessive trait (MacDonald et al 1960). Most reported patients have been of Anglo-Saxon origin (MacDonald et al 1960, Paddison et al 1963), but the family that I have observed are Jews of Egyptian origin.…”

Section: O I ~I L Ymentioning

confidence: 87%

Tapetoretinal Degenerations and Disorders of lipid Metabolism. Part I: Clinical, Genetic, Pathological, and Therapeutic Aspects

Merin

1974

Acta genet. med. gemellol.

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The clinical findings in a group of syndromes in which tapetoretinal degenerations are associated with systemic lipid disorders are described. This group includes abetalipoproteinemia (the syndrome of Bassen and Kornzweig), Refsum's syndrome, Neuronal Ceroid Lipofuscinosis, and Cockayne's syndrome. AII four are transmitted by single autosomal recessive genes. The pathological findings are discussed. If diagnosed early enough, abetalipoproteinemia should be treated by administration of vitamin A, and Refsum's syndrome by restriction of intake of phytanic acid and phytol.

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