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  • Title: [Clinical-genealogic analysis of diaphragmatic hernias].
    Author: Il'ina EG.
    Journal: Genetika; 1992 Jul; 28(7):165-71. PubMed ID: 1427052.
    Abstract:
    The results of clinical-genetic examination of 174 probands with congenital diaphragmatic hernias and their families are presented. Genetic heterogeneity of diaphragmatic hernias, the spectrum of inherited syndromes obtained in the present study and shown in literature the spectrum and frequency of congenital malformations accompanying diaphragmatic hernias were shown. No increase in the average age of the probands' parents and in the marriage distances changes was observed both for isolated diaphragmatic hernias and those accompanied by other malformations was observed. Because of the high risk of neural tube defects occurrence in the sibs of children with diaphragmatic hernias, the probands' mothers should be recommended to undergo prenatal diagnosis of their further pregnancies for this character. The evidence of multifactorial inheritance for the most of diaphragmatic hernia cases was obtained. Empirical recurrent risk for probands' sibs was 1.54 + 1.5%.
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