Guardiola A, Alvares-da-Silva C R, Grisolia J R, Silbermann R
Departamento de Neurologia, Fundação Faculdade Federal de Ciências Médicas de Porto Alegre (FFFCMPA), Brasil.
Arq Neuropsiquiatr. 1999 Mar;57(1):106-10. doi: 10.1590/s0004-282x1999000100021.
We describe a girl with Cockayne syndrome (CS), the diagnostic criteria and the complications of this syndrome. The required criteria for the diagnosis include: prenatal poor growth failure, congenital structural eye anomalies, cataracts, pigmentary retinopathy, severe neurologic dysfunction from birth, sensorineural hearing loss, cutaneous photosensitivity and dental caries. CS is a rare autosomal recessive and biochemical disorder.
我们描述了一名患有科凯恩综合征(CS)的女孩、该综合征的诊断标准及并发症。诊断所需标准包括:产前生长发育迟缓、先天性眼部结构异常、白内障、色素性视网膜病变、出生时即有严重神经功能障碍、感音神经性听力损失、皮肤光敏感和龋齿。CS是一种罕见的常染色体隐性生化紊乱疾病。