早熟
Cockayne综合征
早衰
小头畸形
医学
白内障
感音神经性聋
萎缩
听力损失
皮肤病科
黑皮病
内分泌学
内科学
听力学
儿科
生物
眼科
遗传学
生理学
核苷酸切除修复
基因
DNA修复
作者
Mary Kate Hatch,Colleen Donnelly,Pankaj Prasun
标识
DOI:10.1016/j.jns.2023.122863
摘要
Cockayne syndrome (CS) is characterized by cachectic dwarfism, progressive pigmentary retinopathy, sensorineural hearing loss, microcephaly, and neurological regression. Individuals with this condition also have thin, dry hair, skin photosensitivity, and dental caries. The lack of facial adipose tissue and sunken eyes give "wizened" facial appearance. Wrinkled skin, stooped posture due to joint contractures, cataracts, and premature atherosclerosis resemble normal but accelerated aging. Hence, it is classified under progeria-like or progeroid syndromes.
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