[Clinico-genealogic analysis of 2 families with an unusual syndrome combining dwarfism with dysostosis of the facial cranium and pyramido-extrapyramidal pathology].Zh Nevropatol Psikhiatr Im S S Korsakova. 1978; 78(4):503-9.ZN
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.