Muller L, de Jong G, Falck V, Hewlett R, Hunter J, Shires J
S Afr Med J. 1986 May 10;69(10):633-8.
Tuberous sclerosis is an autosomal dominant disease with variable expression. The initial manifestations have been reported at varying stages postnatally, but little is known about the fetal age at which the disease may be detected. The antenatal ultrasonographic features in 2 affected fetuses, at 40 and 26 weeks respectively, are reported. The second case appears unique because of the early fetal involvement and the abnormally large brain tumour.
结节性硬化症是一种具有可变表达的常染色体显性疾病。其初始表现已在出生后的不同阶段被报道,但对于可检测到该疾病的胎儿年龄却知之甚少。本文报道了分别在孕40周和26周的2例患病胎儿的产前超声特征。第二例病例因其胎儿早期受累及异常大的脑肿瘤而显得独特。