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- W2019754625 abstract "First described in 1936, 1 Cockayne EA Dwarfism with retinal atrophy and deafness. Arch Dis Child. 1936; 11: 1 Crossref PubMed Scopus (223) Google Scholar Cockayne syndrome is an autosomal recessive disorder characterized by premature aging and cachectic dwarfism. To date, approximately 150 to 200 patients have been reported to have the syndrome. The largest survey consisted of 140 patients in 1992. 2 Nance MA Berry SA Cockayne syndrome: Review of 140 cases. Am J Med Genet. 1992; 42: 68 Crossref PubMed Scopus (630) Google Scholar It is commonly recognized in the second year of life. 3 Schneider PE Case reports: Dental findings in a child with Cockayne's syndrome. J Dent Child. 1983; 50: 58 Google Scholar After a normal birth and normal birth weight, growth failure begins from the first year and is profound. The patient usually presents first with behavioral and personality problems, which gradually progress to mental deterioration. 4 Schmickel RD Cockayne's syndrome: A cellular sensitivity to UV light. Pediatrics. 1977; 60: 135 PubMed Google Scholar There is intracranial calcification over the basal ganglia 1 Cockayne EA Dwarfism with retinal atrophy and deafness. Arch Dis Child. 1936; 11: 1 Crossref PubMed Scopus (223) Google Scholar and associated cerebellar ataxia, choreoathetosis, mental retardation, sensorineural deafness, and blindness. 5 Gorhin RJ Syndromes affecting the skin and mucosa. in: ed 3. Syndrome of the Head and Neck. Oxford University Press, New York, NY1990: 492-497 Google Scholar" @default.
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- W2019754625 title "Myocardial ischemia and delayed recovery after anesthesia in a patient with Cockayne syndrome: A case report" @default.
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