Khannanova F K, Lebedev B V, Kozlova S I, Mirzabaeva R Kh, Tavakalova I Kh
Zh Nevropatol Psikhiatr Im S S Korsakova. 1978;78(4):503-9.
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.
本报告涉及对来自2个近亲结婚相关家族的7名患者进行临床系谱分析。在所有患者中，作者观察到一种特殊综合征，表现为比例性侏儒症与面颅骨发育异常以及不同程度表达的锥体-锥体外系病变相结合。疾病于生命的第1年末发病，随后呈稳定进展。作为一种罕见的常染色体隐性遗传疾病形式，该综合征在文献中尚未被描述，因此具有极大的研究价值。
