1.
Zh Nevropatol Psikhiatr Im S S Korsakova
; 78(4): 503-9, 1978.
Article
in Russian
| MEDLINE
| ID: mdl-654724
ABSTRACT
The presentation is concerned with a clinico-genealogical analysis of 7 patients from 2 relative famalies with inbreeding marriages. In all patients the authors observed a peculiar syndrome of combination of proportional dwarfism with dysostosis of the facial cranium and pyramidal-extrapyramidal pathology of a different degree of expressiveness. The onset of the disease was at the end of the 1st year of life with a following steady progression. The given syndrome is of great interest as a rare autosomno-recessive form of hereditary diseases which has not been described in literature.