To the Editor: Cockayne syndrome (CS; Mendelian Inheritance in Man # 133540, 216400) is a rare autosomal recessive neurodegenerative disorder described by Edward Cockayne in 1936. [1] The prevalence of CS is 2.7 per million live births, [2] and the disease is probably underdiagnosed. The major clinical features are progressive growth failure and microcephaly as well as other characteristics such as a "cachectic dwarfism" appearance with sunken eyes, cutaneous photosensitivity, mental retardation, demyelinating peripheral neuropathy, pigmentary retinopathy, cataracts, deafness, dental anomalies, and premature death. [1,3] There is considerable variation in the severity of the disorder, leading to classification into three main types.
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