Rautenstrauch T, Snigula F, Wiedemann H R
Städt. Krankenhaus München-Harlaching, Klinik für Kinder- und Jugendmedizin, Kiel.
Klin Padiatr. 1994 Nov-Dec;206(6):440-3. doi: 10.1055/s-2008-1046647.
The diagnostic criteria of the neonatal progeroid syndrome (NPS) are: intrauterine and postnatal growth failure, hydrocephalic appearance, prominent scalp veins, old-looking face, absence of subcutaneous fat and neonatal teeth. Until now altogether nine cases have been reported, which were predominant diagnosed in infant age. The NPS is in general assigned to the autosomal recessive trait. With increasing age the outward appearance stays unchanged. The in 1977 under diagnose progeria presented patient is now 16 years old. With her a considerable atactic movement disturbance developed next to a psychomotoric retardation. The change in metabolism of proteoglycane that was remarkable in infant age is now no longer provable.
新生儿早老综合征(NPS)的诊断标准为:宫内和出生后生长发育迟缓、脑积水外观、头皮静脉突出、面容苍老、皮下脂肪缺失和乳牙萌出。截至目前,共报告了9例病例,主要在婴儿期确诊。NPS一般被归为常染色体隐性遗传特征。随着年龄增长,外观保持不变。1977年诊断为早老症的患者现已16岁。除了精神运动发育迟缓外,她还出现了明显的共济失调运动障碍。婴儿期显著的蛋白聚糖代谢变化现在已无法证实。