Journel H, Roussey M, Plais M H, Milon J, Almange C, Le Marec B
Prenat Diagn. 1986 Jul-Aug;6(4):283-9. doi: 10.1002/pd.1970060408.
The authors report a case of tuberous sclerosis (TS), diagnosed by prenatal ultrasound, which was suspected by the detection of intracardiac tumours and confirmed by the family investigation. Cardiac rhabdomyomata can be visualized early on echography and must suggest this diagnosis. The place of genetic counselling and prenatal diagnosis in TS is examined.
作者报告了一例经产前超声诊断的结节性硬化症（TS）病例，该病例因检测到心脏内肿瘤而被怀疑，并通过家族调查得以确诊。心脏横纹肌瘤在超声检查中可早期显现，这必然提示了该诊断。本文探讨了结节性硬化症中遗传咨询和产前诊断的地位。
