[New hereditary syndrome with mental retardation].
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.
Marincheva
G S
GS
Kupriianova
T A
TA
Batienko
G S
GS
D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D000293:Adolescent; D000328:Adult; D001132:Arm / Q000098:blood supply; D003937:Diagnosis, Differential; D004108:Dilatation, Pathologic / Q000175:diagnosis / Q000235:genetics / Q000473:pathology; D005260:Female; D006201:Hair Diseases / Q000175:diagnosis / Q000235:genetics / Q000473:pathology; D006801:Humans; D008607:Intellectual Disability / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D012871:Skin Diseases / Q000175:diagnosis / Q000235:genetics / Q000473:pathology; D013577:Syndrome; D014680:Veins / Q000473:pathology
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