[Clinico-genealogic analysis of 2 families with an unusual syndrome combining dwarfism with dysostosis of the facial cranium and pyramido-extrapyramidal pathology].
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.
D001480:Basal Ganglia Diseases / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D002869:Chromosome Aberrations; D025063:Chromosome Disorders; D003241:Consanguinity; D003394:Craniofacial Dysostosis / Q000235:genetics*; D003937:Diagnosis, Differential; D004392:Dwarfism / Q000235:genetics*; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D008297:Male; D010243:Paralysis / Q000235:genetics*; D013577:Syndrome
Kliniko-genealogicheskoĭ analiz dvukh semeĭ so svoeobraznym sindromom sochetaniia karlikovosti s dizostozom litsevogo cherapa i piramidno-ékstrapiramidnoĭ patologieĭ.