[A new genetic variant of the orofaciodigital syndrome].
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Biomedical subjects
Publications and source records attributed to D N Bochkova.
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Examination of 200 children suffering from arrhythmias made it possible to define specific features of the phenotype, attesting to the pathogenetic relation to the condition of the body connective tissue. The authors describe combinations of the signs for the selection of persons at risk for arrhythmias and mitral valve prolapse.
The role of pathologically changed connective tissue was shown on the basis of an analysis of significant correlation of 20 pairs of phenotypical traits in 84 of 285 men with cardiovascular changes.
Twenty-five probands (20- to 29-year-old males), selected from an epidemiologic population on the basis of their ECG patterns, and their first-degree relatives were studied. Intrafamilial similarity and difference of cardiovascular patterns were demonstrated, as was their frequent association with hereditary connective-tissue changes.
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Subcutaneous nodules on the leg were found in 40 (16%) of 250 male cardiologic in-patients, aged 17-65; they correlated, with a significant frequency with increased skin distensibility, overextension of the fingers and breast-bone deformation, mitral valve prolapse and atrial fibrillation. This feature can be used in the diagnosis of inherited generalized connective-tissue dysplasia.
While studying an extended family of individuals with the Ehlers-Danlos (ED) syndrome type I, we found an affected male who was born to 2 affected consanguineous parents. This man had a more severe condition than that of his other affected relatives. Moreover, all 6 of his children were affected. Taking the pedigree data into account, the conditional probability of homozygosity for the ED gene in that patient was calculated as 97%. Some problems of the clinical and genetic approach to the recognition of the homozygous state in the ED syndrome are discussed using this family as an example.
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A total of 1934 subjects aged 11 to 70 were screened phonocardiographically for mitral valve prolapse. Systolic click, systolic murmur or a combination of the two were found in 2.64 +/- 0.36% of the subjects (a 95% confidence margin). The incidence of mitral valve prolapse was not significantly dependent on sex and age. In subjects with mitral valve prolapse, the phono- and echocardiographic findings did not always correlate.
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