Marincheva G S, Kupriianova T A, Batienko G S
Zh Nevropatol Psikhiatr Im S S Korsakova. 1988;88(3):69-74.
The authors describe a family where the mother and daughter had a number of somatic signs (cutis gyrata on the chin, abnormal growth of hair behind the ears, peculiar dilatation of the intracutaneous vein on the upper arm, etc). The daughter has oligophrenia of the debility type; mother is intellectually normal. It appears that here the authors have encountered a new dominant hereditary syndrome with multiple congenital abnormalities.
作者描述了一个家庭,其中母亲和女儿有许多躯体体征(下巴上的回状皮肤、耳后毛发异常生长、上臂皮内静脉的特殊扩张等)。女儿患有衰弱型智力发育迟缓;母亲智力正常。看来作者在此遇到了一种新的具有多种先天性异常的显性遗传综合征。