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Cockayne’s综合症亦称伴有视网膜萎缩与难听的侏儒症,目前认为系常染色体隐性遗传疾病。本文报告。我们最近临床见到一例。患者女,8岁,两年来发育迟缓,身高不长并伴耳聋。患儿第三胎顺产,其两姐姐及父母均正常,家族中无类似患者。查体:身长96厘米(正常117.4厘米)体重,15.5公斤(正常20.3公斤),上部量47厘米(正常61.4厘米),下部量49厘米(正常57.8厘米),头围48厘米(正常49.3厘米),胸围53厘米(正常55.5厘米),神智清楚,智力低下,动作表情幼稚,不全耳聋,皮下脂肪少,余未见异常。
Cockayne’s syndrome, also known as associated with retinal atrophy and ugly dwarfism, is currently considered an autosomal recessive disease. This report. We have seen a recent clinical case. Female patient, 8 years old, two years of developmental delay, height is not long and with deafness. Children with a third child, normal delivery, the two sisters and parents are normal, no similar family in patients. Physical examination: body length 96 cm (normal 117.4 cm) body weight 15.5 kg (normal 20.3 kg), upper 47 cm (normal 61.4 cm), lower 49 cm (normal 57.8 cm), head 48 cm (normal 49.3 cm) , Bust 53 cm (normal 55.5 cm), clear mind, mental retardation, naive gestures, incomplete deafness, less subcutaneous fat, I no exception.