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[Clinico-genealogic analysis of 2 families with an unusual syndrome combining dwarfism with dysostosis of the facial cranium and pyramido-extrapyramidal pathology].

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.

Authors

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Pub Type(s)

English Abstract
Journal Article

Language

rus

PubMed ID

654724

Citation

Khannanova, F K., et al. "[Clinico-genealogic Analysis of 2 Families With an Unusual Syndrome Combining Dwarfism With Dysostosis of the Facial Cranium and Pyramido-extrapyramidal Pathology]." Zhurnal Nevropatologii I Psikhiatrii Imeni S.S. Korsakova (Moscow, Russia : 1952), vol. 78, no. 4, 1978, pp. 503-9.
Khannanova FK, Lebedev BV, Kozlova SI, et al. [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.
Khannanova, F. K., Lebedev, B. V., Kozlova, S. I., Mirzabaeva, R. K. h., & Tavakalova, I. K. h. (1978). [Clinico-genealogic analysis of 2 families with an unusual syndrome combining dwarfism with dysostosis of the facial cranium and pyramido-extrapyramidal pathology]. Zhurnal Nevropatologii I Psikhiatrii Imeni S.S. Korsakova (Moscow, Russia : 1952), 78(4), 503-9.
Khannanova FK, et al. [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. PubMed PMID: 654724.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - [Clinico-genealogic analysis of 2 families with an unusual syndrome combining dwarfism with dysostosis of the facial cranium and pyramido-extrapyramidal pathology]. AU - Khannanova,F K, AU - Lebedev,B V, AU - Kozlova,S I, AU - Mirzabaeva,R Kh, AU - Tavakalova,I Kh, PY - 1978/1/1/pubmed PY - 1978/1/1/medline PY - 1978/1/1/entrez SP - 503 EP - 9 JF - Zhurnal nevropatologii i psikhiatrii imeni S.S. Korsakova (Moscow, Russia : 1952) JO - Zh Nevropatol Psikhiatr Im S S Korsakova VL - 78 IS - 4 N2 - 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. SN - 0044-4588 UR - https://www.unboundmedicine.com/medline/citation/654724/[Clinico_genealogic_analysis_of_2_families_with_an_unusual_syndrome_combining_dwarfism_with_dysostosis_of_the_facial_cranium_and_pyramido_extrapyramidal_pathology]_ L2 - http://www.diseaseinfosearch.org/result/2355 DB - PRIME DP - Unbound Medicine ER -